Chih‐ping Chen
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Medical Philosophy
Chih‐ping Chen's Degrees
- PhD Pharmacology National Yang Ming Chiao Tung University
- Doctorate Medicine National Yang Ming Chiao Tung University
Why Is Chih‐ping Chen Influential?
(Suggest an Edit or Addition)Chih‐ping Chen's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Traditional Chinese medicines and Alzheimer's disease. (2011) (93)
- The Roles of Serum Leptin Concentration and Polymorphism in Leptin Receptor Gene at Codon 109 in Breast Cancer (2007) (76)
- Meckel syndrome: genetics, perinatal findings, and differential diagnosis. (2007) (71)
- Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy. (2007) (67)
- Molecular and clinical analyses of 84 patients with tuberous sclerosis complex (2006) (67)
- Curcuminoids and resveratrol as anti-Alzheimer agents. (2012) (67)
- Associations of the pre-pregnancy body mass index and gestational weight gain with pregnancy outcomes in Taiwanese women. (2012) (67)
- Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia (2001) (62)
- Fetal cystic lung lesions: Evaluation with magnetic resonance imaging (2010) (59)
- Chromosomal abnormalities associated with omphalocele. (2007) (58)
- Polysomnographic characteristics in patients with mucopolysaccharidoses (2010) (54)
- Syndromes, disorders and maternal risk factors associated with neural tube defects (IV). (2008) (54)
- Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q (2006) (53)
- Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. (2012) (52)
- Prenatal diagnosis of arachnoid cysts. (2007) (45)
- Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks (2012) (44)
- Syndromes and disorders associated with omphalocele (II): OEIS complex and Pentalogy of Cantrell. (2007) (39)
- Second‐trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature (2004) (39)
- Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. (2005) (39)
- Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, uinary tract anomalies, congenital heart defect and kyphoscoliosis (1998) (38)
- Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome. (2007) (38)
- Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. (2011) (37)
- Perinatal imaging findings of inherited Sotos syndrome (2002) (37)
- Cytogenetic evaluation of cystic hygroma associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: the roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis (1996) (36)
- Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. (2007) (36)
- Placental abnormalities and preeclampsia in trisomy 13 pregnancies. (2009) (35)
- Prenatal diagnosis of mosaic distal 5p deletion and review of the literature (2004) (34)
- Mutation spectrum of the fibrillin‐1 (FBN1) gene in Taiwanese patients with Marfan syndrome (2009) (33)
- A paternally derived inverted duplication of distal 14q with a terminal 14q deletion (2005) (33)
- Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. (2008) (32)
- Prenatal Ultrasound Evaluation and Outcome of Pregnancy with Fetal Cystic Hygromas and Lymphangiomas (2017) (32)
- Prenatal diagnosis of iniencephaly. (2007) (31)
- ULTRASOUND‐GUIDED FLUID ASPIRATION AND PRENATAL DIAGNOSIS OF DUPLICATED HYDROMETROCOLPOS WITH UTERUS DIDELPHYS AND SEPTATE VAGINA (1996) (31)
- Prenatal sonographic features of fetuses in trisomy 13 pregnancies (III). (2009) (31)
- Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera (2005) (31)
- Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction. (2011) (30)
- Molecular diagnosis of a novel heterozygous 268C→T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis (2002) (30)
- Prenatal diagnosis of the Dandy‐Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion (2002) (30)
- Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3→q31.3) associated with Gorlin syndrome (2006) (29)
- CONGENITAL MALFORMATIONS ASSOCIATED WITH MATERNAL DIABETES (2005) (29)
- PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 13q ASSOCIATED WITH OCCIPITAL ENCEPHALOCOELE IN A FETUS (1996) (28)
- Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review. (2013) (28)
- A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings. (2010) (28)
- Uterine rupture due to traumatic assisted fundal pressure. (2006) (27)
- Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (2012) (27)
- Alzheimer's disease: aging, insomnia and epigenetics. (2010) (27)
- Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations. (2011) (27)
- Chromosomal abnormalities associated with neural tube defects (II): partial aneuploidy. (2007) (27)
- Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay. (2010) (27)
- Contribution of ultrafast magnetic resonance imaging in prenatal diagnosis of sonographically undetected cerebral tuberous sclerosis associated with cardiac rhabdomyomas (2005) (27)
- Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses. (2010) (26)
- Sonographic findings in a fetus with megacystis‐microcolon–intestinal hypoperistalsis syndrome (1998) (26)
- Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan (2010) (26)
- Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. (2008) (26)
- Conjoined twins detected in the first trimester: a review. (2011) (25)
- Effects of curcumin and demethoxycurcumin on amyloid-β precursor and tau proteins through the internal ribosome entry sites: a potential therapeutic for Alzheimer's disease. (2012) (25)
- Management of moderate to severe Alzheimer's disease: focus on memantine. (2011) (25)
- From Down syndrome screening to noninvasive prenatal testing: 20 years' experience in Taiwan. (2013) (25)
- Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly (2001) (25)
- Prenatal diagnosis of mosaic trisomy 2: discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction. (2011) (25)
- Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis (2001) (24)
- Unbalanced reciprocal translocations at amniocentesis. (2011) (24)
- Prenatal diagnosis of omphalocele associated with umbilical cord cyst (1995) (24)
- Prenatal diagnosis and genetic counseling for mosaic trisomy 13. (2010) (23)
- The use of misoprostol in termination of second-trimester pregnancy. (2011) (23)
- Fetal DNA in maternal plasma: the prenatal detection of a paternally inherited fetal aneuploidy (2000) (23)
- Prenatal diagnosis of bilateral ventriculomegaly and an enlarged cisterna magna in a fetus with partial trisomy 9 and partial trisomy 21 (1999) (23)
- Second-trimester maternal serum quadruple test for Down syndrome screening: a Taiwanese population-based study. (2010) (23)
- XRCC4 codon 247*A and XRCC4 promoter −1394*T related genotypes but not XRCC4 intron 3 gene polymorphism are associated with higher susceptibility for endometriosis (2008) (23)
- Prenatal sonographic diagnosis of acrania associated with amniotic bands (2004) (23)
- Association of partial trisomy 9p and the Dandy‐Walker malformation (2005) (23)
- Ectopic molar pregnancy in a cesarean scar. (2006) (23)
- Bilateral calcified ovarian fibromas in a patient with Sotos syndrome. (2002) (22)
- Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene. (2012) (22)
- A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay. (2008) (22)
- Isochromosome 18q in a fetus with congenital megacystis, intra‐uterine growth retardation and cloacal dysgenesis sequence (1998) (22)
- Association of Interleukin-10 A-592C Polymorphism in Taiwanese Children with Kawasaki Disease (2009) (22)
- Isolated torsion of the fallopian tube in a 14-year-old adolescent. (2006) (22)
- Schimmelpenning syndrome: a case report and literature review. (2014) (22)
- Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. (2010) (22)
- Term pregnancy with umbilical cord prolapse. (2012) (21)
- Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18 (2000) (21)
- Prenatal sonographic features of fetuses in trisomy 13 pregnancies (I). (2009) (21)
- Chromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review. (2013) (21)
- Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes (2005) (21)
- PRENATAL DIAGNOSIS OF CEPHALOTHORACOPAGUS JANICEPS MONOSYMMETROS (1997) (21)
- Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family. (2013) (21)
- Prenatal diagnosis, fetal surgery, recurrence risk and differential diagnosis of neural tube defects. (2008) (21)
- Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes. (2009) (21)
- Prenatal diagnosis of partial trisomy 3p(3p23→pter) and monosomy 7q(7q36→qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia (1999) (20)
- Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses. (2010) (20)
- Syndromes, disorders and maternal risk factors associated with neural tube defects (I). (2008) (20)
- Novel mutation in the TSC2 gene associated with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis. (2006) (20)
- Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature (2004) (20)
- Prenatal diagnosis of the distal 11q deletion and review of the literature (2004) (19)
- Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly. (2010) (19)
- Molecular assay of −α3.7 and −α4.2 deletions causing α-thalassemia by denaturing high-performance liquid chromatography (2007) (19)
- Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction (2003) (19)
- Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review. (2015) (19)
- Prenatal diagnosis of inherited satellited non‐acrocentric chromosomes (2000) (19)
- Prenatal diagnosis of low‐level mosaic trisomy 7 by amniocentesis (2005) (19)
- Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3→qter) and partial trisomy 18q (18q23→qter) in a fetus associated with cystic hygroma and ambiguous genitalia (2005) (19)
- PRENATAL DIAGNOSIS, PATHOLOGY, AND GENETIC STUDY OF FETUS IN FETU (1997) (19)
- Growth Hormone (GH) Receptor C.1319 G>T Polymorphism, But Not Exon 3 Retention or Deletion Is Associated With Better First-Year Growth Response to GH Therapy in Patients With GH Deficiency (2007) (19)
- Quantitative assay of deletion or duplication genotype by capillary electrophoresis system: Application in Prader-Willi syndrome and Duchenne muscular dystrophy. (2006) (19)
- Syndromes, disorders and maternal risk factors associated with neural tube defects (VII). (2008) (19)
- Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis. (2012) (18)
- Syndromes, disorders and maternal risk factors associated with neural tube defects (II). (2008) (18)
- Prenatal sonographic findings of Klippel‐Trénaunay‐Weber syndrome (2007) (18)
- Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene (2011) (18)
- Cystic fibrosis with homozygous R553X mutation in a Taiwanese child (2005) (18)
- Dual action of memantine in Alzheimer disease: a hypothesis. (2009) (18)
- Prenatal diagnosis of a fetus with distal 10q trisomy (1999) (17)
- Prenatal diagnosis of mosaic trisomy 16 associated with congenital diaphragmatic hernia and elevated maternal serum alpha‐fetoprotein and human chorionic gonadotrophin (2004) (17)
- Prenatal diagnosis of pentalogy of Cantrell associated with hypoplasia of the right upper limb and ectrodactyly (2007) (17)
- Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review. (2008) (17)
- Prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis in a pregnancy with a favorable outcome. (2019) (17)
- Ventriculomegaly, intrauterine growth restriction, and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2 --> pter) in a fetus. (2010) (17)
- Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. (2010) (17)
- Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus (1998) (17)
- Hormone therapy for postmenopausal women—An unanswered issue (2013) (17)
- Balanced reciprocal translocations detected at amniocentesis. (2010) (17)
- Spatiotemporal expression of SERPINE2 in the human placenta and its role in extravillous trophoblast migration and invasion (2011) (17)
- Prenatal diagnosis of de novo terminal deletion of chromosome 7q (2003) (17)
- Recurrent short‐rib polydactyly syndrome: prenatal three‐dimensional ultrasound findings and associations with congenital high airway obstruction and pyelectasia (2005) (17)
- RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia (2011) (16)
- PRENATAL DIAGNOSIS OF A DELETION OF 18q IN A FETUS ASSOCIATED WITH MULTIPLE‐MARKER SCREEN POSITIVE RESULTS (1997) (16)
- Prenatal Sonographic Features of Miller-Dieker Syndrome (2010) (16)
- PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 3p AND PARTIAL TRISOMY 2p IN A FETUS ASSOCIATED WITH SHORTENING OF THE LONG BONES AND A SINGLE UMBILICAL ARTERY (1996) (16)
- A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene (2009) (16)
- Enlarged Cisterna Magna in the Third Trimester as a Clue to Fetal Trisomy 18 (1998) (16)
- Prenatal diagnosis of right pulmonary agenesis associated with VACTERL sequence (2003) (16)
- Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation. (2008) (16)
- Prenatal diagnosis of partial trisomy 3p and partial monosomy 11q in a fetus with a Dandy‐Walker variant and trigonocephaly (2002) (16)
- Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8. (2010) (16)
- Syndromes, disorders and maternal risk factors associated with neural tube defects (V). (2008) (16)
- Syndromes, disorders and maternal risk factors associated with neural tube defects (III). (2008) (15)
- First- and second-trimester Down syndrome screening: current strategies and clinical guidelines. (2008) (15)
- Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3. (2012) (15)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13. (2013) (15)
- Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review. (2014) (15)
- Prenatal diagnosis and genetic analysis of X chromosome polysomy 49,XXXXY (2000) (15)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome. (2013) (15)
- Limb-body wall complex in one fetus of a dizygotic twin pregnancy conceived by egg donation, in vitro fertilization and embryo transfer: prenatal diagnosis and literature review. (2009) (15)
- Epicatechin gallate decreases the viability and subsequent embryonic development of mouse blastocysts. (2010) (15)
- Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly. (2011) (15)
- Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1→qter) and partial monosomy 20q (20q13.3→qter) (2005) (14)
- Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system (2006) (14)
- Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes. (2014) (14)
- XRCC1 399*Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, and hOGG1 polymorphisms, are associated with higher susceptibility of endometriosis (2012) (14)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry. (2013) (14)
- Detection of mosaic isochromosome 20q in amniotic fluid in a pregnancy with fetal arthrogryposis multiplex congenita and normal karyotype in fetal blood and postnatal samples of placenta, skin, and liver (2003) (14)
- Prenatal sonographic features of fetuses in trisomy 13 pregnancies (II). (2009) (14)
- Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis. (2013) (14)
- Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly (1996) (14)
- Concomitant exencephaly and limb defects associated with pentalogy of Cantrell. (2008) (14)
- Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay. (2017) (14)
- De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure. (2011) (14)
- Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes (1992) (14)
- Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements (2006) (14)
- Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes. (2013) (14)
- Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus. (2009) (14)
- Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene. (2012) (14)
- Molecular genetic analysis of the TSC genes in two families with prenatally diagnosed rhabdomyomas (2005) (14)
- Prenatal imaging of the fetal anterior chest wall cystic hygroma by magnetic resonance imaging (2003) (14)
- Omphalocele and congenital diaphragmatic hernia associated with fetal trisomy 18 (2005) (14)
- Prenatal diagnosis of de novo pure partial monosomy 4p (4p15.1 → pter) in a growth‐restricted fetus with a Greek warrior helmet face and unilateral facial cleft on three‐dimensional ultrasound (2004) (14)
- Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. (2011) (14)
- 22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative genomic hybridization. (2009) (14)
- Prenatal diagnosis of low-level mosaicism for trisomy 2 associated with a favorable pregnancy outcome. (2016) (14)
- Association of interleukin‐18 gene polymorphism with asthma in Chinese patients (2008) (14)
- Pathophysiology of increased fetal nuchal translucency thickness. (2010) (14)
- A comparison of maternal age, sex ratio and associated major anomalies among fetal trisomy 18 cases with different cell division of error (2005) (14)
- Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes. (2013) (14)
- Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism. (2012) (14)
- Prenatal diagnosis of trisomy 8 mosaicism. (2012) (13)
- 3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization. (2013) (13)
- Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. (2010) (13)
- Molecular prenatal diagnosis of thalassemia in Taiwan (2000) (13)
- Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction. (2011) (13)
- Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism. (2013) (13)
- Third‐trimester evaluation of choledochal cyst using magnetic resonance imaging (2004) (13)
- Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes. (2016) (13)
- Effect of exercise training on calpain systems in lean and obese Zucker rats (2008) (13)
- Syndromes, disorders and maternal risk factors associated with neural tube defects (VI). (2008) (13)
- Prenatal magnetic resonance imaging demonstration of the systemic feeding artery of a pulmonary sequestration associated with in utero regression (2005) (13)
- Prenatal diagnosis of de novo proximal interstitial deletion of 9q and review of the literature of uncommon aneuploidies associated with increased nuchal translucency (2005) (13)
- Resectoscopic excision of the vaginal septum in a virgin with uterus didelphys and obstructed unilateral vagina. (2010) (13)
- A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome. (2012) (12)
- INVASIVE FETAL THERAPY: GLOBAL STATUS AND LOCAL DEVELOPMENT (2004) (12)
- Prenatal diagnosis of premature centromere division–related mosaic variegated aneuploidy (2004) (12)
- Discrepancy in the trisomy mosaicism level between cultured amniocytes and uncultured amniocytes in prenatally detected mosaic trisomy 20. (2013) (12)
- Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of Type 2 diabetes with cataract (2010) (12)
- Prenatal diagnosis of mosaic trisomy 12 associated with congenital overgrowth. (2013) (12)
- Prenatal diagnosis of mosaic tetrasomy 18p. (2012) (12)
- Prenatal imaging of limb‐body wall complex by magnetic resonance imaging (2005) (12)
- Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism. (2017) (12)
- Early second‐trimester diagnosis of monozygotic twins discordant for cystic hygroma colli and Turner syndrome (2003) (12)
- Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy. (2011) (12)
- Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome (2007) (12)
- Prenatal diagnosis of interstitially satellited 6p (2004) (12)
- Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism. (2013) (12)
- Safety and efficacy of unidirectional barbed suture in mini-laparotomy myomectomy. (2013) (12)
- Detection of a homozygous D645E mutation of the acid α‐glucosidase gene and glycogen deposition in tissues in a second‐trimester fetus with infantile glycogen storage disease type II (2004) (12)
- An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. (2013) (12)
- Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review. (2016) (12)
- Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4 (2004) (12)
- VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer. (2013) (12)
- Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2) (1999) (12)
- Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion. (2011) (12)
- Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome. (2016) (12)
- Genome-wide detection of uniparental disomy in a fetus with intrauterine growth restriction using genotyping microarrays. (2009) (12)
- Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF-ET. (2013) (12)
- Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer. (2014) (12)
- Fetal blood sampling and cytogenetic abnormalities (1993) (11)
- Hematocolpometra associated with an imperforate hymen and acute urinary retention mimicking a pelvic mass. (2008) (11)
- Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization in pregnancy with abnormal ultrasound findings detected in late second and third trimesters. (2010) (11)
- Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. (2013) (11)
- Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts (2001) (11)
- Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaic trisomy 12 at amniocentesis associated with a favorable pregnancy outcome. (2017) (11)
- Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32→qter) and partial monosomy 21q (21q22.2→qter) (2006) (11)
- Partial trisomy 10q (10q25.1 →qter) and partial monosomy 13q (13q34→qter) presenting with fetal pyelectasis: prenatal diagnosis and array comparative genomic hybridization characterization. (2010) (11)
- Angiomyxoma of the umbilical cord. (2006) (11)
- Prenatal diagnosis of mosaic ring chromosome 9 (2006) (11)
- Cytogenetic variability in the proportion of abnormal cells between the various tissues in prenatally detected mosaic tetrasomy 12p (2007) (11)
- Application of interphase FISH to uncultured amniocytes for rapid confirmation of true trisomy 2 mosaicism in the case of suspected amniocyte mosaicism involving trisomy 2 in a single colony. (2013) (11)
- Prenatal diagnosis of de novo partial trisomy 13q (13q22 → qter) and partial monosomy 8p (8p23.3 → pter) associated with holoprosencephaly, premaxillary agenesis, hexadactyly, and a hypoplastic left heart (2005) (11)
- Prenatal diagnosis of mosaic trisomy 9. (2011) (11)
- Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q (1997) (11)
- Prenatal diagnosis of limb–body wall complex with craniofacial defects, amniotic bands, adhesions and upper limb deficiency (2001) (11)
- Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18. (2010) (11)
- Prenatal diagnosis of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester. (2012) (11)
- Prenatal diagnosis of low‐level mosaic tetrasomy 9p by amniocentesis (2007) (11)
- Proteome differences between male and female fetal cells in amniotic fluid. (2013) (11)
- Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome. (2014) (10)
- Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome (2008) (10)
- Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1. (2015) (10)
- Impact of Second-Trimester Maternal Serum Screening on Prenatal Diagnosis of Down Syndrome and the use of Amniocentesis in the Taiwanese Population (2005) (10)
- Second‐trimester evaluation of fetal sacrococcygeal teratoma using three‐dimensional color Doppler ultrasound and magnetic resonance imaging (2003) (10)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1→q31.1). (2013) (10)
- Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester. (2012) (10)
- Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception. (2012) (10)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4. (2011) (10)
- Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization. (2013) (10)
- Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints. (2013) (10)
- Prenatal sonographic features of fetuses in trisomy 13 pregnancies. IV. (2010) (10)
- Second‐trimester sonographic detection of short rib–polydactyly syndrome type II (Majewski) following an abnormal maternal serum biochemical screening result (2003) (10)
- Fetal MRI of hydrometrocolpos with septate vagina and uterus didelphys as well as massive urinary ascites due to cloacal malformation (2009) (10)
- Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects. (2014) (10)
- Placenta proteome analysis from Down syndrome pregnancies for biomarker discovery. (2012) (10)
- Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies: prenatal diagnosis by amniocentesis. (2009) (10)
- Pure partial monosomy 3p (3p25.3 → pter): prenatal diagnosis and array comparative genomic hybridization characterization. (2012) (9)
- Central nervous system anomalies associated with fetal trisomy 18 (2005) (9)
- Prenatal diagnosis of mosaic ring chromosome 4 (2007) (9)
- 6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay. (2013) (9)
- Assessment of Postmenopausal Bleeding (2008) (9)
- Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasi (2012) (9)
- Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion (2003) (9)
- Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review. (2013) (9)
- Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome. (2017) (9)
- A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. (2011) (9)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2. (2012) (9)
- Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18. (2010) (9)
- Maternal serum screening abnormality in a fetus associated with arthrogryposis multiplex congenita and amyoplasia (1997) (9)
- Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound. (2018) (9)
- Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis. (2009) (9)
- Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium. (2012) (9)
- Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis. (2013) (9)
- Prenatal diagnosis of de novo interstitial 16q deletion in a fetus associated with sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones (1998) (9)
- PRENATAL DIAGNOSIS OF SUPERNUMERARY der(22)t(11;22) ASSOCIATED WITH THE DANDY‐WALKER MALFORMATION IN A FETUS (1996) (9)
- Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect. (2017) (9)
- Prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion (2003) (9)
- Prenatal diagnosis of rhabdomyomas and cerebral tuberous sclerosis by magnetic resonance imaging in one fetus of a dizygotic twin pregnancy associated with a frameshift mutation in the TSC2 gene. (2010) (9)
- Double aneuploidy with Edwards-Klinefelter syndromes (48,XXY,+18) of maternal origin: prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb. (2011) (9)
- Perioperative vasovagal syncope with focus on obstetric anesthesia. (2006) (9)
- Thoraco-omphalopagus conjoined twins associated with omphalocele and an umbilical cord cyst. (2007) (9)
- Preliminary descriptive statistics of the Taiwanese Registry of Epilepsy and Pregnancy for the first 2 years. (2007) (8)
- Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. (2017) (8)
- Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry. (2014) (8)
- Prenatal diagnosis of mosaic 22q11.2 microdeletion (2004) (8)
- Prenatal diagnosis of mosaicism for trisomy 15 in a single colony at amniocentesis with a favorable fetal outcome. (2017) (8)
- Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction. (2016) (8)
- De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and molecular cytogenetic characterization. (2013) (8)
- Prenatal diagnosis of microvillus inclusion disease. (2011) (8)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry. (2013) (8)
- Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation. (2006) (8)
- Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes. (2012) (8)
- Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalities. (2012) (8)
- Second‐trimester magnetic resonance imaging of fetal sacrococcygeal teratoma with intrapelvic extension in a co‐twin (2004) (8)
- Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy. (2013) (8)
- Congenital heart defects associated with fetal trisomy 18 (2006) (8)
- Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus. (2018) (8)
- Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic isochromosome 20q detected at amniocentesis. (2011) (8)
- Prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect. (2013) (8)
- Isolation of Human Neural Stem Cells from the Amniotic Fluid with Diagnosed Neural Tube Defects. (2015) (8)
- Prenatal diagnosis of concomitant Wolf–Hirschhorn syndrome and split hand‐foot malformation associated with partial monosomy 4p (4p16.1→pter) and partial trisomy 10q (10q25.1→qter) (2008) (8)
- A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys. (2009) (8)
- Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. (2010) (8)
- Arthrogryposis of the wrist and ankle associated with fetal trisomy 18 (2005) (8)
- Stroke during pregnancy and puerperium: clinical perspectives. (2010) (8)
- Is it safe to use minimally invasive surgery in the management of endometrial cancer? (2016) (8)
- HUGE PRIMARY VAGINAL STONE IN A RECUMBENT WOMAN (2005) (8)
- Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan. (2019) (8)
- Total hCG versus free beta-hCG combined with alpha-fetoprotein for Down syndrome screening in Taiwan. (2007) (8)
- Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome. (2012) (7)
- First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. (2012) (7)
- Prenatal diagnosis of persistent cloaca with hydrometrocolpos and ascites by magnetic resonance imaging in one fetus of a dizygotic twin pregnancy. (2010) (7)
- Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1 (2007) (7)
- Ring chromosome 21 presenting with sacrococcygeal teratoma: prenatal diagnosis, molecular cytogenetic characterization and literature review. (2013) (7)
- Short‐rib polydactyly syndrome type III (Verma–Naumoff) in a third‐trimester fetus with unusual associations of epiglottic hypoplasia, renal cystic dysplasia, pyelectasia and oligohydramnios (2001) (7)
- Zika virus: An emerging challenge for obstetrics and gynecology. (2017) (7)
- Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 21. (2010) (7)
- Partial monosomy 13q (13q21.32--->qter) and partial trisomy 8p (8p1--->pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization. (2011) (7)
- Magnetic resonance imaging demonstration of sirenomelia in one fetus of a dizygotic twin pregnancy conceived by intracytoplasmic sperm injection, in vitro fertilization and embryo transfer. (2011) (7)
- Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability. (2018) (7)
- Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome. (2014) (7)
- Abnormally flat facial profile on two- and three-dimensional ultrasound and array comparative genomic hybridization for the diagnosis of Pallister-Killian syndrome. (2010) (7)
- Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9. (2017) (7)
- Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p. (2014) (7)
- Higher male prevalence of chromosomal mosaicism detected by amniocentesis. (2018) (7)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot. (2016) (7)
- Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY) (2007) (7)
- Acardiac Twinning (Twin Reversed Arterial Perfusion Sequence): A Review of Prenatal Management (2005) (7)
- Third-trimester 3D ultrasound evaluation of thanatophoric dysplasia type I. (2007) (7)
- Prenatal 3‐dimensional sonographic and MRI findings in omphalocele–exstrophy–imperforate anus–spinal defects complex (2008) (7)
- Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation. (2012) (7)
- First-trimester molecular diagnosis of complete hydatidiform mole associated with dizygotic twin pregnancy conceived by intrauterine insemination. (2014) (7)
- Inconsistency of omphalocoele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q (1999) (7)
- Placental mesenchymal dysplasia associated with antepartum hemorrhage, subchorionic hematoma, and intrauterine growth restriction. (2013) (7)
- Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II. (2013) (7)
- Prenatal magnetic resonance imaging of Galloway–Mowat syndrome (2005) (7)
- Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome. (2016) (7)
- Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion. (2016) (7)
- Prenatal Sonographic Features of Turner Syndrome (2007) (7)
- Fetoplacental and fetoamniotic chromosomal discrepancies in prenatally detected mosaic trisomy 9 (2003) (7)
- A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. (2018) (7)
- Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15)(q26.2q26.3). (2011) (7)
- Detection of mosaic 15q11.1-q11.2 deletion encompassing NBEAP1 and POTEB in a fetus with diffuse lymphangiomatosis. (2017) (7)
- Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. (2011) (7)
- Prenatal Sonographic Features of Trisomy 13 (2007) (7)
- Aplasia and duplication of the thumb and facial clefts associated with fetal trisomy 18 (2006) (7)
- Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder. (2017) (7)
- Sonographic appearance of the uterus after simple square suturing for rapid control of postpartum hemorrhage and preservation of fertility (2002) (7)
- Prenatal magnetic resonance imaging, ultrasound imaging findings and genetic analysis of concomitant rhabdomyomas and cerebral tuberous sclerosis. (2009) (6)
- Recurrent fetal pyelectasis in a family with fetuses associated with partial trisomy 10q (10q24.1→qter) (2005) (6)
- Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound. (2018) (6)
- Limb-body wall complex with craniofacial defects after ovarian stimulation. (2008) (6)
- Prenatal ultrasound demonstration of limb-body wall complex with megacystis. (2011) (6)
- Application of interphase fluorescence in situ hybridization to uncultured amniocytes for differential diagnosis of pseudomosaicism from true mosaicism in mosaic isochromosome 20q detected at amniocentesis. (2013) (6)
- Prenatal diagnosis of low-level mosaicism for trisomy 12 associated with a favorable pregnancy outcome. (2016) (6)
- Typical body wall defect associated with craniofacial anomalies and amniotic bands diagnosed in early pregnancy. (2007) (6)
- Monozygotic twins with trisomy 18 of paternal origin: prenatal diagnosis and molecular cytogenetic characterization in a pregnancy with one structurally abnormal living fetus and one intrauterine fetal demise. (2012) (6)
- Prenatal diagnosis of complete trisomy 16q in two consecutive pregnancies (2004) (6)
- Inversion and Enlargement of the Heterochromatin Region of Chromosome No.9 among Taiwanese (1997) (6)
- Molecular assay of -alpha(3.7) and -alpha(4.2) deletions causing alpha-thalassemia by denaturing high-performance liquid chromatography. (2007) (6)
- Rapid Aneuploidy Diagnosis by Array Comparative Genomic Hybridization Using Uncultured Amniocytes in a Pregnancy With Fetal Nuchal Edema and Mild Ascites (2011) (6)
- Effect of gonadotropin-releasing hormone agonist on ES-2 ovarian cancer cells. (2014) (6)
- Prenatal diagnosis of cystic bladder distension secondary to obstructive uropathy (2000) (6)
- Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation. (2014) (6)
- Rapid diagnosis of pseudomosaicism in a case of Level II mosaicism for trisomy 5 in a single colony from an in situ culture of amniocytes and a review of mosaic trisomy 5 at amniocentesis. (2016) (6)
- Prenatal diagnosis of partial trisomy 3p (3p21-->pter) and partial monosomy 11q (11q23-->qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system. (2008) (6)
- Identification of CpG methylation of the SNRPN gene by methylation‐specific multiplex PCR (2009) (6)
- Outstanding female cancer research paper awards of the 2016 Taiwan Association of Obstetrics and Gynecology and Hsu Chien-Tien Cancer Foundation. (2017) (6)
- Prenatal diagnosis of pure distal 18q deletion (2006) (6)
- Second‐trimester sonographic demonstration of retrognathia and bilateral pyelectasis in a fetus with a duplication of chromosome 10q24.1→qter (2003) (6)
- Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature. (2015) (6)
- Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review. (2019) (6)
- Huge pelvic mass, cutaneous and vaginal fistulas, and bilateral hydronephrosis: a rare presentation of actinomycosis with a good response to conservative treatment and with long-term sequelae of renal atrophy and hydronephrosis. (2008) (6)
- Prenatal diagnosis of partial trisomy 3q(3q22→qter) and monosomy 6q(6q25.3→qter) in a fetus with sonographic findings of cystic hygromata colli and unilateral pleural effusion (2001) (6)
- Second‐trimester nasal bone hypoplasia/aplasia associated with cleidocranial dysplasia (2004) (6)
- Maternal serum markers and preeclampsia. (2015) (6)
- Prenatal Sonographic Features of Beckwith-Wiedemann Syndrome (2009) (6)
- Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis. (2020) (6)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review. (2013) (6)
- Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosomes. (2013) (6)
- Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis by interphase FISH, QF-PCR and aCGH on uncultured amniocytes. (2012) (6)
- Ovarian abscess caused by nontyphoidal Salmonella in a woman with systemic lupus erythematosus: a case report. (2005) (6)
- Association of partial trisomy 9 (9pter→q22.3) with corpus callosum dysgenesis, bilateral subependymal cysts, and ventriculomegaly (2003) (6)
- Prenatal Sonographic Features of Pallister-Killian Syndrome (2010) (6)
- Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother. (2012) (6)
- Prenatal Sonographic Features of Triploidy (2007) (6)
- Persistent cloaca presenting with a perineal cyst: Prenatal ultrasound and magnetic resonance imaging findings. (2012) (5)
- Prenatal sonography and magnetic resonance imaging of pulmonary sequestration associated with a gastric duplication cyst (2006) (5)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review. (2017) (5)
- Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities. (2018) (5)
- Detection of altered methylation status at 11p15.5 and 7q32 in placental mesenchymal dysplasia. (2014) (5)
- Third-trimester ultrasound evaluation of arachnoid cysts. (2007) (5)
- Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome. (2021) (5)
- Mosaic trisomy 14 at amniocentesis: prenatal diagnosis and literature review. (2013) (5)
- Prenatal diagnosis and molecular analysis of trisomy 13 mosaicism. (2009) (5)
- Concomitant craniorachischisis and omphalocele in a male fetus: prenatal magnetic resonance imaging findings and literature review. (2009) (5)
- Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association. (2012) (5)
- Prenatal Sonographic Features of 22q11.2 Microdeletion Syndrome (2008) (5)
- Detection of no isochromosome 20q by interphase fluorescent in situ hybridization on uncultured amniocytes in a pregnancy with mosaic isochromosome 20q in cultured amniocytes at amniocentesis. (2015) (5)
- Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects. (2019) (5)
- Mosaic tetrasomy 12p with discrepancy between fetal tissues and extraembryonic tissues: molecular analysis and possible mechanism of formation. (2010) (5)
- Fetal cervico‐mediastinal cystic hygroma associated with maternal serum screening positive for Down syndrome (2002) (5)
- Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum. (2020) (5)
- Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 22. (2010) (5)
- MATERNAL DEATH FOLLOWING MEDICAL TREATMENT OF PAROXYSMAL SUPRAVENTRICULAR TACHYCARDIA IN LATE GESTATION (2005) (5)
- Prenatal diagnosis of mosaicism for trisomy 2 in a single colony at amniocentesis in a pregnancy with a favorable outcome. (2017) (5)
- Prenatal diagnosis of an acardiac amorphous twin and the anomalous co‐twin in a monoamniotic twin pregnancy (2005) (5)
- Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings (2002) (5)
- Bowel "dissection" in microvillus inclusion disease. (2015) (5)
- Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion. (2016) (5)
- Mosaic isochromosome 20q detected at amniocentesis: a likely cell culture artifact. (2012) (5)
- Readers' comment is important for the journal. (2015) (5)
- Prenatal diagnosis of a 4.9-Mb deletion of 10q11.21 --> q11.23 by array comparative genomic hybridization. (2010) (5)
- Trisomy 13 mosaicism associated with cyclopia and cystic hygroma. (2009) (5)
- Prenatal diagnosis of partial trisomy 16q and distal 22q13 deletion associated with dolichocephaly and frontal bossing on second‐trimester ultrasound (2005) (5)
- Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome. (2020) (5)
- Genotyping of the G 1138 A mutation of the FGFR 3 gene in patients with achondroplasia using high-resolution melting analysis (2008) (5)
- Prenatal diagnosis of mos45,X/46,X,+mar in a fetus with normal male external genitalia and a literature review. (2009) (5)
- Interphase fluorescence in situ hybridization assisting in prenatal counseling for amniocentesis karyotyping-detected fetal mosaicism. (2015) (5)
- NFκB2 gene duplication is associated with fetal pyelectasis in partial trisomy 10q (10q24.1 → qter) (2008) (5)
- Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3. (2017) (5)
- Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester. (2010) (5)
- Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability. (2016) (5)
- Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13, ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency. (2017) (5)
- Prenatal identification of fetal overgrowth, abdominal wall defect, and neural tube defect in pregnancies achieved by assisted reproductive technology (2004) (5)
- Spontaneous rupture of omental teratoma mimicking a ruptured ovarian teratoma. (2008) (5)
- Prenatal diagnosis of 46,XX,DER(13;21)(Q10;Q10),+21 and transient abnormal myelopoiesis in a fetus with hepatosplenomegaly and spontaneous resolution of fetal ascites. (2009) (5)
- Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency. (2009) (5)
- Favourable outcome in a pregnancy with concomitant maternal and fetal osteogenesis imperfecta associated with a novel COL1A2 mutation (2006) (5)
- Prenatal diagnosis of mosaicism for trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome. (2020) (5)
- Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality. (2017) (4)
- Prenatal diagnosis of a distal 3p deletion associated with fetoplacental chromosomal discrepancy and confined placental mosaicism detected by array comparative genomic hybridization. (2013) (4)
- Prenatal diagnosis of maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome. (2022) (4)
- Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus. (2021) (4)
- Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction. (2011) (4)
- Human gene mutations. Gene symbol: GLA. Disease: Fabry disease. (2007) (4)
- Prenatal diagnosis of congenital chylothorax associated with de novopartial trisomy 12q (12q21.2→qter) (2006) (4)
- Prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy with a favorable outcome. (2020) (4)
- Concomitant chyloperitoneum and omental cysts presenting as fetal ascites with intra‐abdominal cysts on prenatal ultrasound (1998) (4)
- Successful triplet pregnancy and delivery after oocyte donation in an infertile female with chromosome mosaicism for monosomy X, partial trisomy X, and terminal Xp deletion. (2003) (4)
- Perinatal Findings in a Male Fetus with Congenital Megacystis and Anorectal Malformations (1998) (4)
- Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 → pter) and partial monosomy 9p (9p22 → pter) (2005) (4)
- Prenatal magnetic resonance imaging evaluation of a digynic triploid fetus. (2007) (4)
- Celebration of the Taiwanese Journal of Obstetrics and Gynecology (2014) (4)
- Torsion of a huge ovarian cyst in a 90-year-old woman. (2008) (4)
- The safety and efficacy of microwave endometrial ablation after endometrial curettage without hormonal pretreatment. (2007) (4)
- Detection of a familial 21q22.3 microduplication in a fetus associated with congenital heart defects. (2019) (4)
- Prenatal diagnosis of partial trisomy 10q (10q25.3→qter) and partial monosomy 18q (18q23→qter) (2005) (4)
- Prenatal Ultrasound Findings of Pregnancy Associated with Zika Virus Infection (2016) (4)
- Prenatal diagnosis of directly transmitted benign 4q12-q13.1 quadruplication associated with tandem segmental amplifications of the LPHN3 gene. (2011) (4)
- Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high‐performance liquid chromatography system (2008) (4)
- Partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31 →qter) presenting with fetal ascites and ventriculomegaly: prenatal diagnosis and array comparative genomic hybridization characterization. (2010) (4)
- Pathological characterization of a malformed umbilical cord associated with body stalk anomaly. (2011) (4)
- Maternal transmission of interstitial microdeletion in 5q13.2 detected during prenatal diagnosis of coarctation of the aorta. (2013) (4)
- Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound. (2018) (4)
- Perinatal findings of partial trisomy 13q (13q14.1→qter) resulting from paternal pericentric inversion of chromosome 13 (2005) (4)
- Outstanding female cancer research paper awards of the 2015 Taiwan Association of Obstetrics and Gynecology and Hsu Chien-Tien Cancer Foundation. (2016) (4)
- Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies. (2014) (4)
- Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities. (2016) (4)
- Attitudes toward maternal serum screening in Chinese women with positive results (1996) (4)
- Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele (2008) (4)
- Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis. (2020) (4)
- Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality. (2016) (4)
- Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones. (2017) (4)
- Neonatal outcome of a prenatally detected 46,XX/46,XY true hermaphrodite (2006) (4)
- Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound. (2017) (4)
- Hematometrocolpos secondary to didelphic uterus and unilateral imperforated double vagina as an unusual cause of acute abdomen. (2007) (4)
- Prenatal diagnosis of low‐level mosaic trisomy 6 by amniocentesis (2006) (4)
- Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II. (2012) (4)
- Insulin-like growth factors II exon 9 and E-cadherin-Pml I but not myeloperoxidase promoter-463, urokinase-ApaL I nor xeroderma pigmentosum polymorphisms are associated with higher susceptibility to leiomyoma. (2010) (4)
- Prenatal Two- and Three-Dimensional Ultrasound Diagnosis of Limb Reduction Defects Associated with Homozygous α-Thalassemia (2006) (4)
- Prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome. (2020) (3)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis. (2020) (3)
- Prenatal diagnosis of an interstitial deletion of 10q (10q11.21 → q21.1): array comparative genomic hybridization characterization and literature review. (2012) (3)
- Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation. (2012) (3)
- Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup(15). (2020) (3)
- Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2→q11.21). (2013) (3)
- Prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes. (2021) (3)
- Mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/ 46,XX at amniocentesis in a pregnancy with a favorable outcome. (2021) (3)
- Fetal magnetic resonance imaging demonstration of central nervous system abnormalities and polydactyly associated with Joubert syndrome. (2010) (3)
- Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan (2021) (3)
- Prenatal diagnosis of de novo partial trisomy Xq (Xq22.1→qter) and terminal Xp deletion following sonographic detection of intrauterine growth restriction (2003) (3)
- Postcesarean splenic torsion. (2006) (3)
- Spatiotemporal expression of SERPINE 2 in the human placenta and its role in extravillous trophoblast migration and invasion (2011) (3)
- Prenatal diagnosis of low‐level mosaicism for a small XIST‐negative supernumerary ring X chromosome in a nondysmorphic male fetus (2006) (3)
- Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. (2012) (3)
- First-trimester diagnosis of recurrent omphalocele associated with fetal trisomy 18 but without parental mosaicism. (2015) (3)
- A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation. (2014) (3)
- Pregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result. (2015) (3)
- Usefulness of interphase FISH on uncultured amniocytes for rapid confirmation of low-level trisomy 7 mosaicism in a pregnancy with fetal intrauterine growth restriction and microcephaly. (2012) (3)
- Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter). (2016) (3)
- Perinatal cytogenetic discrepancy in a fetus with low-level mosaicism for trisomy 21 and a favorable outcome. (2020) (3)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication. (2016) (3)
- Recurrent distal 16q duplication and terminal 22q deletion: prenatal diagnosis and genetic counseling. (2010) (3)
- Successful Laparoscopic Management of Primary Abdominal Pregnancy in the Cul-De-Sac (2005) (3)
- Prenatal identification of fetal radial aplasia and esophageal atresia in a pregnancy associated with polyhydramnios (2004) (3)
- Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly. (2020) (3)
- Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis (2003) (3)
- Molecular cytogenetic characterization and prenatal diagnosis of familial Xp22.33 microdeletion encompassing short stature homeobox gene in a male fetus with a favorable outcome. (2017) (3)
- Prenatal sonographic and magnetic resonance imaging demonstration of a right midline arachnoid cyst associated with ventriculomegaly, colpocephaly, dilation of the third ventricle, absence of cavum septi pellucidi, agenesis of the corpus callosum and mega cisterna magna. (2008) (3)
- Prenatal diagnosis of congenital lobar fluid overload. (2017) (3)
- The p21 codon 31*C- and DRD2 codon 313*T-related genotypes/alleles, but not XRCC1 codon 399, hOGG1 codon 326, and DRD1-48 polymorphisms, are correlated with the presence of leiomyoma. (2009) (3)
- Low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome in a pregnancy. (2020) (3)
- Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21) (1997) (3)
- Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia. (2015) (3)
- Noninvasive prenatal testing for fetal trisomy in mixed risk factors pregnancy population. (2015) (3)
- First-trimester two-dimensional and three-dimensional ultrasound demonstration of craniofacial defects, abdominal wall defects and upper limb deficiency associated with limb-body wall complex. (2011) (3)
- Low-level mosaic tetrasomy 18p at amniocentesis can be associated with a favorable pediatric outcome: The follow-ups of three consecutive cases. (2020) (3)
- Prenatal visualization of cebocephaly with a prominent nose in a second-trimester fetus with alobar holoprosencephaly and trisomy 13. (2008) (3)
- Outstanding female cancer research paper awards of the Taiwanese Association of Obstetrics and Gynecology. (2018) (3)
- Prenatal diagnosis of a 15q11.2-q14 deletion of paternal origin associated with increased nuchal translucency, mosaicism for de novo multiple unbalanced translocations involving 15q11-q14, 5qter, 15qter, 17pter and 3qter and Prader-Willi syndrome. (2021) (3)
- Unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis. (2010) (3)
- Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome. (2020) (3)
- Prenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly. (2015) (3)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 15. (2014) (3)
- Detection and comparison of cytomegalovirus DNA levels in amniotic fluid and fetal ascites in a second-trimester fetus with massive ascites, hyperechogenic bowel, ventriculomegaly and intrauterine growth restriction. (2010) (3)
- Prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis in a pregnancy with a favorable outcome. (2020) (3)
- Concomitant Serratia marcescens peritonitis and tubo-ovarian abscess associated with peritoneal dialysis and intrauterine device placement. (2007) (3)
- Low-level mosaic trisomy 17 at amniocentesis can be associated with a favorable pediatric outcome: The follow-ups of three consecutive cases. (2021) (3)
- Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic 46,XX,dup(9)(q22.3q34.1)/46,XX at amniocentesis in a pregnancy with a favorable outcome. (2022) (3)
- Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis. (2020) (3)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14). (2013) (3)
- Prenatal diagnosis of low-level mosaicism for trisomy 18 associated with a favorable fetal outcome. (2016) (3)
- Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial duplication of Yq (Yq11.2→qter) and partial monosomy 5p (5p15.3→pter) (2005) (3)
- Incidental Detection of Metastatic Lobular Breast Carcinoma in the Female Internal Genital Organs 2 Years Following Modified Radical Mastectomy (2005) (2)
- Prenatal diagnosis and molecular cytogenetic characterization of a small marker chromosome derived from Y chromosome. (2011) (2)
- Low-level mosaic trisomy 21 at amniocentesis can be associated with a favorable pediatric outcome: The follow-up of a child at age 6 years and 4 months. (2022) (2)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin. (2020) (2)
- Detection of a novel c.7106_7110delinsT heterozygous mutation in the FLNA gene in an asymptomatic mother with periventricular nodular heterotopia during prenatal genetic counseling. (2016) (2)
- Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay. (2016) (2)
- Placenta percreta presenting as a pinhole uterine rupture and acute abdomen. (2010) (2)
- Concordant myelomeningocele in dizygotic twins conceived by intracytoplasmic sperm injection, in vitro fertilization, and embryo transfer. (2013) (2)
- High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line. (2022) (2)
- Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta. (2021) (2)
- Microcephaly with dysgenesis of corpus callosum and colpocephaly in the survivor after the first‐trimester death of a monochorionic co‐twin (2002) (2)
- Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements. (2012) (2)
- High-level mosaicism for 45,X in 45,X/46, XY at amniocentesis in a pregnancy with a favorable fetal outcome and cytogenetic discrepancy in various tissues. (2022) (2)
- Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy. (2020) (2)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 2. (2017) (2)
- First-trimester sonographic demonstration of digynic triploidy. (2013) (2)
- High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line. (2022) (2)
- Prenatal imaging findings of a rapidly involuting congenital hemangioma (RICH) over right flank in a fetus with a favorable outcome. (2016) (2)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21. (2017) (2)
- Detection of placental mosaic trisomy 17 in a pregnancy associated with mosaicism for trisomy 17 in a single colony at amniocentesis with a favorable outcome (2021) (2)
- Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome. (2022) (2)
- Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review. (2013) (2)
- 22q13 deletion syndrome in a fetus associated with microtia, hemivertebrae, and congenital heart defects on prenatal ultrasound. (2016) (2)
- Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic trisomy 20 at amniocentesis in a pregnancy with a favorable outcome. (2022) (2)
- Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II. (2012) (2)
- Rapid Diagnosis of Trisomy 21 by Array Comparative Genomic Hybridization using Uncultured Amniocytes in a Pregnancy with Isolated Ventriculomegaly in the Fetus (2012) (2)
- Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result. (2021) (2)
- Rapid Diagnosis of Monosomy X using Uncultured Amniocytes in Amniotic Fluid and Cultured Lymphocytes in Cystic Fluid in a Pregnancy with Fetal Cystic Hygroma and Hydrops (2012) (2)
- Mosaic isochromosome 20q at amniocentesis: Prenatal diagnosis, genetic counseling and literature review. (2019) (2)
- Disappearance of the trisomy 15 cell line at long-term follow-up in mosaic trisomy 15 at amniocentesis. (2021) (2)
- Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan (2013) (2)
- Prenatal diagnosis of complete trisomy 16q in two consecutive pregnancies (2004) (2)
- Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis. (2011) (2)
- Partial duplication of 3 q and distal deletion of 11 q in a stillbirth with an omphalocele containing the liver , short limbs , and intrauterine growth retardation (2)
- Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia. (2017) (2)
- Congenital retroperitoneal cystic teratoma mimicking a cystic lymphangioma on perinatal ultrasound (2003) (2)
- Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p. (2011) (2)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16. (2017) (2)
- Detection of chromosome aberrations during prenatal genetic testing for single gene disorders (2004) (2)
- Detection of maternal uniparental disomy 9 in association with low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, abnormal first-trimester screening result (low PAPP-A and low PlGF), maternal preeclampsia and a favorable outcome. (2022) (2)
- Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. (2019) (2)
- Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18. (2022) (2)
- Rapid prenatal diagnosis of Duchenne muscular dystrophy with gene duplications by ion‐pair reversed‐phase high‐performance liquid chromatography coupled with competitive multiplex polymerase chain reaction strategy (2007) (2)
- Introduce the outstanding research paper awards of the Taiwan Association of Obstetrics and Gynecology and Hsu Chien-Tien Cancer Foundation in 2020. (2020) (2)
- Late-onset fetal bilateral pleural effusions associated with Down syndrome. (2018) (2)
- Prenatal diagnosis and molecular analysis of triploidy in a fetus with intrauterine growth restriction, relative macrocephaly and holoprosencephaly. (2009) (2)
- Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly. (2011) (2)
- An Intrauterine Gestational sac Surrounded by Thin Myometrium at Fundus (2017) (2)
- Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects. (2021) (2)
- Authors' responsibility is critical for journal. (2015) (2)
- Asymmetrical terminal limb defects in a hydropic infant with homozygous α‐thalassemia‐1 (2005) (2)
- Digynic triploidy in a fetus presenting with semilobar holoprosencephaly. (2018) (2)
- Methotrexate Followed by Suctional Curettage: A Successful Treatment for Cesarean Scar Pregnancy (2005) (2)
- Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother. (2021) (2)
- First-trimester cystic hygroma and omphalocele in a fetus with Turner syndrome. (2018) (2)
- Prenatal diagnosis of 22q11.2 deletion syndrome associated with right aortic arch, left ductus arteriosus, cardiomegaly, and pericardial effusion. (2016) (2)
- Prenatal Diagnosis of Cerebral Tubers by Magnetic Resonance Imaging Following Detection of Cardiac Rhabdomyomas by Prenatal Ultrasound in a Fetus With a Nonsense Mutation in the TSC2 gene (2011) (2)
- Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis. (2017) (2)
- Rapid Diagnosis of Trisomy 18 Using Uncultured Amniocytes in Late Second Trimester in a Pregnancy with Fetal Congenital Heart Defects, Arthrogryposis, Omphalocele, and Mega Cisterna Magna (2012) (2)
- Detection of mosaic balanced homologous acrocentric rearrangement rea(21q21q) in a woman with repeated pregnancy losses. (2012) (1)
- Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome. (2021) (1)
- Detection of hypomethylation of H19 in a pregnancy with limb-body wall complex. (2018) (1)
- Concomitant occurrence of holoprosencephaly and omphalocele. (2008) (1)
- Acute abdomen caused by hematometra and hematosalpinx four months following right oophorectomy in a teenager with right peritubal adhesions, unicornuate uterus and a right noncommunicating rudimentary horn. (2007) (1)
- Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis. (2013) (1)
- Prenatal Diagnosis of Otocephaly by Three-dimensional Ultrasonography (2004) (1)
- Application of quantitative fluorescent polymerase chain reaction analysis for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly, cyclopia, polydactyly, omphalocele and cell culture failure. (2022) (1)
- Current awareness in prenatal diagnosis. (2000) (1)
- Human gene mutations. Gene symbol: EXT1. Disease: exostoses (multiple) 1. (2007) (1)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 11. (2017) (1)
- Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin. (2021) (1)
- Prenatal diagnosis of persistent left superior vena cava, polyhydramnios and a small gastric bubble in a fetus with VACTERL association. (2021) (1)
- Gene symbol: GCDH. Disease: Glutaricacidaemia I. (2008) (1)
- Directly transmitted 4.5-Mb triplication of 4q12-q13.1: prenatal diagnosis and molecular cytogenetic characterization. (2014) (1)
- DUAL ACTION OF MEMANTINE IN ALZHEIMER DISEASE (2009) (1)
- THIRD-TRIMESTER SPONTANEOUS RUPTURE OF AN UNSCARRED UTERUS WITH MASSIVE INTRA-ABDOMINAL HEMORRHAGE DURING TOCOLYSIS IN A PREGNANT WOMAN WHO HAS HAD MULTIPLE INSTRUMENTAL ABORTIONS (2004) (1)
- Prenatal diagnosis and genetic counseling of uniparental disomy. (2022) (1)
- Abnormal prenatal hematological findings in congenital leukemia of Down syndrome with hepatosplenomegaly (2007) (1)
- Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly. (2016) (1)
- A false-positive result at non-invasive prenatal testing due to maternal 17p12 microduplication. (2022) (1)
- Prenatal diagnosis of a micropenis in a male fetus with partial trisomy 12q (12q24.32→qter) and partial monosomy 21q (21q22.2→ter→qter) (2006) (1)
- An outstanding Lee Tzu-Yao reproductive medicine research paper award in 2018. (2019) (1)
- Detection of balanced homologous acrocentric rearrangement rea(14q14q) and low-grade X-chromosome mosaicism in a couple with repeated pregnancy losses. (2010) (1)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia. (2020) (1)
- Partial trisomy 3p and monosomy 7p associated with tetralogy of Fallot and infantile seizure. (2007) (1)
- Introduce the outstanding research paper awards of the Taiwan Association of Obstetrics and Gynecology in 2020. (2021) (1)
- Concomitant omphalocele and anencephaly associated with trisomy 18 and arthrogryposis diagnosed in early pregnancy. (2008) (1)
- Lethal multiple pterygium syndrome associated with omphalocele. (2007) (1)
- Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1. (2017) (1)
- Omental trophoblastic implant with hemoperitoneum as a sequela of suction dilatation and curettage. (2008) (1)
- Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay. (2018) (1)
- Prenatal diagnosis of abdominal lymphatic malformations. (2021) (1)
- Fetal mosaic trisomy 16 in association with elevated maternal serum free β‐hCG (2004) (1)
- MUC 2 polymorphisms are associated with endometriosis development and infertility : a case-control study (2012) (1)
- Cytogenetic discrepancy between fetal tissue and body fluid in a fetus with cystic hygroma colli (2000) (1)
- A 17-year-old boy with Klinefelter syndrome presenting Marfan syndrome-like clinical features of tall stature, scoliosis, arachnodactyly and subluxation of bilateral elbow joints. (2018) (1)
- First-trimester prenatal diagnosis of Ellisevan Creveld syndrome (2012) (1)
- Spontaneous Rupture of an Unscarred Uterus Caused by Near-Cornual Pregnancy with Placenta Accreta at 4 Months of Pregnancy (2005) (1)
- A new hope or a new nightmare? Concerned about the conflicted data. (2021) (1)
- Human gene mutations. Gene symbol: EXT2. Disease: exostoses (multiple) 2. (2007) (1)
- A concealed penis mimicking penile agenesis in an infant with trisomy 13 (1996) (1)
- Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios. (2013) (1)
- Outstanding research paper awards of the 2017 Taiwanese Journal of Obstetrics and Gynecology. (2018) (1)
- Outstanding research paper awards of the 2014 Taiwanese Journal of Obstetrics and Gynecology. (2015) (1)
- Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. (2017) (1)
- Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound. (2017) (1)
- Prenatal Sonographic Features of Trisomy 18 (2007) (1)
- Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome. (2021) (1)
- Type III congenital cystic adenomatoid malformation of the lung detected through maternal serum screening positive for Down's syndrome (1997) (1)
- Prenatal diagnosis of mosaicism for trisomy 17 in a single colony at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome. (2022) (1)
- Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 15q24 microdeletion. (2020) (1)
- Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. (2013) (1)
- Visfatin, breastfeeding, and breast cancer. (2015) (1)
- Outstanding research paper awards of the 2015 Taiwanese Journal of Obstetrics and Gynecology. (2016) (1)
- Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism. (2021) (1)
- Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia. (2018) (1)
- Detection of paternal origin of fetal trisomy 18 in a pregnancy conceived by assisted reproductive technology and in vitro fertilization. (2020) (1)
- Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome. (2022) (1)
- HUGE VESICOVAGINORECTAL STONE CAUSED BY A RETAINED DOUBLE-J STENT FOLLOWING RADICAL HYSTERECTOMY AND RADIOTHERAPY FOR CERVICAL CANCER (2004) (1)
- Prenatal diagnosis of trisomy 11 in a single colony of cultured amniocytes at amniocentesis in a pregnancy with a favorable outcome. (2021) (1)
- Inv dup del(10p): Prenatal diagnosis and molecular cytogenetic characterization. (2019) (1)
- Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy. (2022) (1)
- Prenatal diagnosis of X‐linked myotubular myopathy (2010) (1)
- Book Review and Announcements (1998) (1)
- Prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome and a review of mosaic distal 5p deletion. (2020) (0)
- Prenatal diagnosis of a familial 9p12 amplification inherited from a father carrier. (2021) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 15 in a pregnancy associated with recurrent Down syndrome. (2021) (0)
- Prenatal diagnosis of pseudomosaicism for trisomy 20 at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome. (2022) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1. (2022) (0)
- Low-level mosaic trisomy 15 at amniocentesis without uniparental disomy 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the aneuploid cell line. (2023) (0)
- Late amniocentesis with uniparental disomy testing following successful in vitro fertilization and transfer of three mosaic embryos in a pregnancy with a favorable outcome. (2022) (0)
- Detection of a Rare Complication of Congenital Cystic Adenomatoid Malformation in a Recipient Twin with Twin-Twin Transfusion Syndrome Using Prenatal Magnetic Resonance Imaging (2016) (0)
- Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes. (2023) (0)
- Rapid diagnosis of trisomy 18 of maternal origin by quantitative fluorescent polymerase chain reaction analysis following tissue culture failure for conventional cytogenetic analysis in a fetus with holoprosencephaly, ventricular septal defect, arthrogryposis of bilateral wrists and aplasia of the t (2021) (0)
- Prenatal Diagnosis of LimbeBody Wall Complex With Craniofacial Defects (0)
- Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10). (2022) (0)
- Prenatal diagnosis of a 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral pyelectasis on prenatal ultrasound. (2020) (0)
- OMPHALOCELE IN A MALE FETUS: PRENATAL MAGNETIC RESONANCE IMAGING FINDINGS AND LITERATURE REVIEW (2009) (0)
- Prenatal diagnosis of familial 2p15 microduplication associated with pulmonary artery stenosis, single umbilical artery and left foot postaxial polydactyly on fetal ultrasound. (2021) (0)
- Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues. (2023) (0)
- Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects. (2020) (0)
- WITHDRAWN: Corrigendum to "Ring chromosome 21 presenting with sacrococcygeal teratoma: Prenatal diagnosis, molecular cytogenetic characterization and literature review" [Gene 522 (2013) 111-116]. (2013) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of a familial small supernumerary marker chromosome derived from the acrocentric chromosome 14/22. (2022) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 3. (2019) (0)
- Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing (2022) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation. (2011) (0)
- Detection of mosaicism for 46,X,i(Y) (q10) in the blood lymphocytes in a phenotypically normal male neonate with prenatally detected 45,X/46, XY at amniocentesis and cytogenetic discrepancy in various tissues. (2022) (0)
- Unexplained shortening of the long bones in the third trimester as the only prenatal feature in a male fetus with 45,X/46,X,r(Y) mosaicism. (2012) (0)
- 45,X/46,XX at amniocentesis associated with a favorable outcome and postnatal decrease of the 45,X cell line. (2022) (0)
- Mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the unbalanced translocation. (2023) (0)
- Application of array comparative genomic hybridization analysis for rapid differential diagnosis of a chromosome euchromatic variant of dup 22q13.3 at amniocentesis. (2021) (0)
- Concomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male. (2023) (0)
- Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome. (2021) (0)
- Reply to Comment on An Intrauterine Gestational Sac Surrounded by Thin Myometrium at Fundus (2018) (0)
- Detection of paternal origin of fetal de novo rea(21q;21q) down syndrome in a pregnancy of a young woman associated with an abnormal first-trimester maternal serum screening result. (2022) (0)
- Outstanding female cancer research paper awards of the 2018 Hsu Chien-Tien Cancer Foundation. (2019) (0)
- Incidental Detection of Thoracoomphalopagus at Amniocentesis in a Twin Pregnancy (2013) (0)
- Molecular cytogenetic analysis of de novo dup(5)(q33.1q31.1) associated with abnormal perinatal findings (2006) (0)
- The significance of karyotyping and azoospermia factor analysis in patients with nonobstructive azoospermia or oligozoospermia. (2022) (0)
- Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues. (2023) (0)
- De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review (2022) (0)
- Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis. (2023) (0)
- Author's response to reviews Title: Low penetrance of retinoblastoma for V654L mutation of the RB1 gene Authors: (2011) (0)
- Prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis in a twin pregnancy with a favorable outcome. (2021) (0)
- Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 7 in the male partner of a phenotypically normal couple with repeated spontaneous abortions. (2017) (0)
- 1353: A 12 Mb Deletion of 6p24.1-->per in an 18-Gestational-Week Fetus with Orofacial Clefting, the Dandy-Walker Malformation and Bilateral Multicystic Kidneys (2009) (0)
- Technical Advance Quantitative and Qualitative Analyses of the SNRPN Gene Using Real-Time PCR with Melting Curve Analysis (2011) (0)
- Cesarean Scar Pregnancy (2020) (0)
- Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome. (2013) (0)
- REARRANGEMENTS INVOLVING CHROMOSOMES OTHER THAN CHROMOSOME 21 (2009) (0)
- Detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age. (2020) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9 p deletion and literature review (2013) (0)
- Short Communication Mosaic trisomy 2 at amniocentesis: Prenatal diagnosis and molecular genetic analysis (2012) (0)
- Sepsis and Septic Shock following Pneumonia in Pregnancy may Cause Adverse Pregnant Outcome (2003) (0)
- Polymicrogyria in a neonate with severe autoimmune thrombocytopenia: rare coincidence or related disorder? (2007) (0)
- Disappearance of the trisomy 8 cell line at long-term follow-up in mosaic trisomy 8 at amniocentesis in a pregnancy with a favorable outcome. (2021) (0)
- Prenatal diagnosis of a familial normal euchromatic variant of dup(15)(q11.2q11.2) in a pregnancy with a favorable outcome. (2020) (0)
- Primary Ovarian Pregnancy Following in Vitro Fertilization and Embryo Transfer: A Case Report (2003) (0)
- Outstanding research paper awards of the 2016 Taiwanese Journal of Obstetrics and Gynecology. (2017) (0)
- Poor Fetal Heart Rate Variability in a Pregnant Woman with Acute Appendicitis (2005) (0)
- Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft. (2022) (0)
- Ectopic pregnancy with oral contraceptive use. (2008) (0)
- Bladder Calculus Formation and Recurrent Stress Incontinence Subsequent to Stamey'S Operation (2005) (0)
- Detection of maternal origin of fetal trisomy 18 in a pregnancy with incidental detection of low-level mosaicism for X aneuploidy in a 46-year-old woman. (2022) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo interchromosomal insertion of ins(1;8)(p22.1;q22q23). (2020) (0)
- An Intrauterine Gestational Sac Surrounded by Thin Myometrium at Fundus (2017) (0)
- Prenatal diagnosis of concomitant gallbladder hydrops and pyelectasis with spontaneous resolution. (2007) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion. (2021) (0)
- Perinatal Magnetic Resonance Imaging Demonstration of Duplication of the Right Renal Collecting System with Ipsilateral Hydronephrosis and Hydroureter, and Contralateral Renal Hypoplasia (2011) (0)
- Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results. (2020) (0)
- Neonatal Morbidity and Mortality Following Combined Vaginal and Cesarean Deliveries in a Triplet Pregnancy at 31 Gestational Weeks (2005) (0)
- Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line. (2023) (0)
- Prenatal diagnosis of euploid increased nuchal translucency on fetal ultrasound (II): RASopathy disorders – Prenatal ultrasound findings and genotype–phenotype correlations (2023) (0)
- Perivascular epithelioid cell tumor ( PEComa ) of the uterus with aggressive behavior at presentation (2010) (0)
- Prenatal diagnosis and management of monozygotic twins discordant for severe fetal abnormalities. (2020) (0)
- Current awareness in prenatal diagnosis (2007) (0)
- Gene symbol: LMX1B. Disease: Nail-patella syndrome. (2008) (0)
- Prenatal diagnosis of a familial Y long-arm and chromosome 15 short-arm translocation inherited from a mother carrier. (2021) (0)
- Asymmetrical terminal limb defects in a hydropic infant with homozygous alpha-thalassemia-1. (2005) (0)
- Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line. (2023) (0)
- Current awareness in prenatal diagnosis (2007) (0)
- Case Report Galloway-Mowat syndrome: Prenatal ultrasound and perinatal magnetic resonance imaging findings (2011) (0)
- Mosaic 46,XY,dup(14) (q12q22.3)/46, XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues. (2023) (0)
- Current awareness in prenatal diagnosis (1996) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of de novo distal 5p deletion and distal 22q duplication. (2020) (0)
- Mosaic isochromosome 20q at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes. (2023) (0)
- Research Letter Prenatal diagnosis of mosaic trisomy 9 (2011) (0)
- 206 DETECTION AND COMPARISON OF CYTOMEGALOVIRUS DNA LEVELS IN AMNIOTIC FLUID AND FETAL ASCITES IN A SECOND-TRIMESTER FETUS WITH MASSIVE ASCITES , HYPERECHOGENIC BOWEL , VENTRICULOMEGALY AND INTRAUTERINE GROWTH RESTRICTION (2010) (0)
- Current awareness in prenatal diagnosis (2006) (0)
- Magnetic resonance imaging demonstration of sirenomelia in one fetus of a dizygotic twin pregnancy conceived by intracytoplasmic sperm injection, invitro fertilization and embryo transfer (0)
- Spontaneous resolution of septated cystic hygroma with a severely increased nuchal translucency thickness of 5.8 mm detected in the first-trimester in a pregnancy with no abnormalities in chromosomal, microarray and whole exome sequencing analyses and a favorable fetal outcome. (2022) (0)
- Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell line. (2023) (0)
- Molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X;21 translocation detected by amniocentesis. (2023) (0)
- Detection of de novo secondary trisomy 13 due to isochromosome (13q;13q) of paternal origin in a pregnancy with fetal cystic hygroma. (2015) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound. (2020) (0)
- Chromosomal deletions detected at amniocentesis. (2014) (0)
- Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome. (2017) (0)
- Fetal Renal Artery (2015) (0)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 21 associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening. (2022) (0)
- Outstanding research paper awards of the 2018 Taiwanese Journal of Obstetrics and Gynecology. (2019) (0)
- Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome. (2022) (0)
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