Chih‐ping Chen

Chih‐ping Chen's AcademicInfluence.com Rankings

Chih‐ping Chen

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#3203

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#3659

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Pharmacology

#387

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#439

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Chih‐ping Chen

Philosophy

#9199

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#12721

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#6188

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#7677

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philosophy Degrees

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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

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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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