Norio Niikawa

Q: What Schools Are Affiliated With Norio Niikawa

Norio Niikawa is affiliated with the following schools: Hokkaido University, Nagasaki University, Osaka University, Imperial University of Japan, Health Sciences University of Hokkaido, Kyoto University

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Norio Niikawa

Biology

#1935

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Genetics

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#272

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Biology

Norio Niikawa's Degrees

PhD Genetics Kyoto University

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According to Wikipedia, was a Japanese physician and medical geneticist who discovered an autosomal dominant disorder, Kabuki syndrome, also known as Niikawa-Kuroki syndrome. Contribution Niikawa made an important contribution in the field of medical genetics. In 1981, he discovered a novel syndrome, Kabuki syndrome, and later he and his colleagues also identified a gene for the syndrome. In 2006, his research group identified a single nucleotide polymorphism in the ABCC11 gene is the determinant of human earwax type.

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Norio Niikawa's Published Works

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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

A second generation human haplotype map of over 3.1 million SNPs (2007) (4567)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (2010) (1357)
Mapping Human Genetic Diversity in Asia (2009) (559)
Heterozygous TGFBR2 mutations in Marfan syndrome (2004) (518)
Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. (1981) (469)
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome (2012) (422)
ASC, a Novel 22-kDa Protein, Aggregates during Apoptosis of Human Promyelocytic Leukemia HL-60 Cells* (1999) (420)
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. (1988) (404)
An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome (1996) (358)
Haploinsufficiency of NSD1 causes Sotos syndrome (2002) (285)
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome (2011) (283)
Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. (2003) (273)
A SNP in the ABCC11 gene is the determinant of human earwax type (2006) (238)
LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids. (1999) (233)
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. (2001) (206)
Kabuki make‐up syndrome: A review (2003) (195)
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease (2000) (192)
KDM6A Point Mutations Cause Kabuki Syndrome (2013) (181)
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome (2011) (175)
Mosaic and polymorphic imprinting of the WT1 gene in humans (1994) (174)
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. (1999) (160)
MLL2 and KDM6A mutations in patients with Kabuki syndrome (2013) (153)
Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors. (1996) (151)
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family (2004) (148)
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion (2003) (139)
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. (1993) (136)
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density (2004) (134)
Anatomic and chromosomal anomalies in 639 spontaneous abortuses (2004) (133)
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. (2005) (132)
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA (1994) (123)
Banding analysis of abnormal karyotypes in spontaneous abortion. (1973) (118)
Identification of proacrosin binding protein sp32 precursor as a human cancer/testis antigen (2001) (116)
Kabuki syndrome: international consensus diagnostic criteria (2018) (114)
Parental Imprinting of Human Chromosome Region 11p15.3-pter Involved in the Beckwith-Wiedemann Syndrome and Various Human Neoplasia (1994) (114)
Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism (2004) (112)
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse (2003) (109)
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. (1992) (108)
cDNA cloning and chromosomal mapping of human N-acetylglucosaminyltransferase V+. (1994) (107)
Establishment of functional imprinting of the H19 gene in human developing placentae (1995) (105)
The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations (2012) (105)
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. (2007) (104)
SMOC1 is essential for ocular and limb development in humans and mice. (2011) (104)
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. (1997) (104)
Cause of sudden, unexpected death of Prader–Willi syndrome patients with or without growth hormone treatment (2005) (104)
cDNA cloning, expression, and chromosomal localization of human N-acetylglucosaminyltransferase III (GnT-III). (1993) (104)
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) (2002) (103)
Origin of triploidy and tetraploidy in man: 11 cases with chromosomes markers. (1977) (102)
Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus. (1996) (101)
DNA deletion and its parental origin in Angelman syndrome patients. (1991) (101)
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis (1992) (99)
The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. (1986) (98)
Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes. (1983) (95)
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor β3-subunit gene (1992) (95)
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions (2003) (95)
Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology? (2005) (91)
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions (2012) (91)
Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature (2013) (88)
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway (2002) (85)
Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air. (2005) (84)
Frequent loss of imprinting of the H19 and IGF-II genes in ovarian tumors. (1998) (84)
New p57KIP2 mutations in Beckwith-Wiedemann syndrome (1997) (84)
Quantitative structure--activity relationship analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1 (P-glycoprotein/MDR1). (2007) (83)
Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. (2001) (82)
Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type? (2009) (81)
Erratum: LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids (Human Molecular Genetics (1999) 8 (1209-1217)) (1999) (80)
Domain-specific Mutations of a Transforming Growth Factor (TGF)-β1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-β1* (2001) (80)
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. (1993) (79)
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. (2003) (79)
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). (1989) (77)
cDNA sequence and chromosomal localization of a novel human protein, RBQ-1 (RBBP6), that binds to the retinoblastoma gene product. (1995) (75)
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. (2000) (73)
BAC array CGH reveals genomic aberrations in idiopathic mental retardation (2006) (73)
Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients. (1991) (69)
NAT2 6A, a haplotype of the N-acetyltransferase 2 gene, is an important biomarker for risk of anti-tuberculosis drug-induced hepatotoxicity in Japanese patients with tuberculosis. (2007) (69)
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. (2005) (68)
Use of psoralen as extinguisher of contaminated DNA in PCR. (1990) (68)
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia (2005) (67)
A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene (2009) (66)
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses (2006) (66)
The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families (2004) (64)
Genomic organization and chromosomal assignment of the human beta1, 4-N-acetylgalactosaminyltransferase gene. Identification of multiple transcription units. (1996) (64)
Molecular characterization of inv dup del(8p): Analysis of five cases (2004) (64)
Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? (1992) (64)
Isolation and characterization of a novel gene deleted in DiGeorge syndrome. (1995) (63)
A stable acentric marker chromosome: possible existence of an intercalary ancient centromere at distal 8p. (1994) (63)
Array comparative genomic hybridization analysis in first‐trimester spontaneous abortions with ‘normal’ karyotypes (2006) (60)
A Case of Neonatal McCune‐Albright Syndrome with Cushing Syndrome and Hyperthyroidism (1991) (60)
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation (2004) (59)
Growth hormone therapy and scoliosis in patients with Prader–Willi syndrome (2006) (55)
Genomic discordance between monozygotic twins discordant for schizophrenia. (1998) (54)
47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region (1999) (53)
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. (2007) (53)
The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III. (1986) (52)
Narrowing candidate region for monosomy 9p syndrome to a 4.7‐Mb segment at 9p22.2‐p23 (2006) (50)
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. (2003) (49)
Assignment1 of the programmed cell death 4 gene (PDCD4) to human chromosome band 10q24 by in situ hybridization (1999) (48)
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest (2006) (48)
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). (2002) (48)
The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain (2003) (48)
Role of DNA Methylation and Histone H3 Lysine 27 Methylation in Tissue-Specific Imprinting of Mouse Grb10 (2006) (48)
Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R? (2002) (47)
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome (2005) (47)
The origin of mosaic Down syndrome: four cases with chromosome markers. (1984) (47)
Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis. (2000) (46)
Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations (2016) (46)
Paternal expression of WT1 in human fibroblasts and lymphocytes. (1997) (45)
Functional complementation in mouse-human radiation hybrids assigns the putative murine scid gene to the pericentric region of human chromosome 8. (1993) (45)
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum (2007) (44)
Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome. (2003) (43)
The human gene encoding the heavy chain of the major histocompatibility complex class I-like Fc receptor (FCGRT) maps to 19q13.3. (1996) (43)
Cytogenetic and molecular study of Angelman syndrome. (1990) (43)
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. (2014) (43)
Molecular cloning of a human protein that binds to the retinoblastoma protein and chromosomal mapping. (1995) (42)
Origin and mechanisms of formation of fetus‐in‐fetu: Two cases with genotype and methylation analyses (2006) (41)
Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2. (1997) (41)
9q34.3 deletion syndrome in three unrelated children (2004) (40)
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid (2006) (39)
Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues (1994) (38)
A Mutation in RYK is a Genetic Factor for Nonsyndromic Cleft Lip and Palate (2006) (38)
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome (2004) (38)
Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa. (2001) (38)
A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland (2007) (38)
The Human ASCL2 Gene Escaping Genomic Imprinting and Its Expression Pattern (2002) (38)
Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations (2007) (37)
Congenital arhinia: Molecular‐genetic analysis of five patients (2007) (36)
Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation (1998) (36)
Paroxysmal kinesigenic choreoathetosis: From first discovery in 1892 to genetic linkage with benign familial infantile convulsions (2006) (36)
Identification of eight novel NSD1 mutations in Sotos syndrome (2003) (36)
Increased level of cell‐free placental mRNA in a subgroup of placenta previa that needs hysterectomy (2008) (36)
On the reported 8p22‐p23.1 duplication in Kabuki make‐up syndrome (KMS) and its absence in patients with typical KMS (2004) (36)
The novel gene, gamma2-COP (COPG2), in the 7q32 imprinted domain escapes genomic imprinting. (2000) (36)
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome (2009) (35)
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. (1996) (35)
Standard growth curves for Japanese patients with Prader-Willi syndrome. (2000) (35)
NECC1, a candidate choriocarcinoma suppressor gene that encodes a homeodomain consensus motif. (2003) (35)
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families (2007) (34)
The dermatoglyphic pattern of the Kabuki make‐up syndrome (1982) (33)
Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome (2003) (33)
Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2) (1991) (33)
Digynic triploid infant surviving for 46 days. (1999) (32)
Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool (1992) (31)
Human ESP1/CRP2, a member of the LIM domain protein family: characterization of the cDNA and assignment of the gene locus to chromosome 14q32.3. (1996) (31)
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. (2001) (30)
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32 (1998) (30)
Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome. (1994) (30)
Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41. (1999) (30)
Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese. (2005) (30)
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family (2002) (30)
Guidelines for genetic testing (2001) (30)
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12 (2000) (29)
Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I. (1992) (29)
Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion (2013) (29)
A ZRS duplication causes syndactyly type IV with tibial hypoplasia (2009) (29)
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome (2012) (28)
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet (2002) (28)
Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. (2002) (28)
Molecular cloning, tissue distribution, and chromosomal localization of human cationic amino acid transporter 2 (HCAT2). (1996) (28)
Duplication of 8p23.2: a benign cytogenetic variant? (2002) (28)
Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause (2006) (28)
A syndactyly type IV locus maps to 7q36 (2007) (28)
Molecular-genetic study of Duchenne and Becker muscular dystrophies: deletion analyses of 45 Japanese patients and segregation analyses in their families with RFLPs based on the data from normal Japanese females. (1989) (27)
Microdissection of human chromosomal regions 8q23.3-q24.11 and 2q33-qter: construction of DNA libraries and isolation of their clones. (1992) (27)
Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32. (2000) (27)
Methylation imprinting of H19 and SNRPN genes in human benign ovarian teratomas. (1999) (27)
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D (2009) (26)
Molecular Basis of Sotos Syndrome (2004) (26)
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus (2004) (26)
Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization. (2000) (26)
Placental mRNA in maternal plasma and its clinical application to the evaluation of placental status in a pregnant woman with placenta previa-percreta. (2005) (26)
A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome. (2003) (25)
Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain (2006) (24)
Monozygotic twins discordant for the major signs of McCune-Albright syndrome. (1991) (24)
Polymorphic and tissue-specific imprinting of the human wilms tumor gene,WT1 (1997) (24)
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. (2004) (24)
Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome (2006) (23)
A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient. (1997) (23)
Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies. (1998) (23)
Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus. (1998) (22)
Isolated congenital anosmia locus maps to 18p11.23-q12.2 (2004) (22)
Isolation of novel heart-specific genes using the BodyMap database. (2001) (22)
Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders (2011) (22)
The "Michelin tire baby" syndrome--an autosomal dominant trait. (1985) (22)
Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome (1989) (22)
Case of 46,XX/47,XY, +21 chimerism in a newborn infant with ambiguous genitalia. (1994) (21)
Labor increases maternal DNA contamination in cord blood. (2004) (21)
Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier. (2001) (21)
TGFB1 mutations in four new families with Camurati–Engelmann disease: Confirmation of independently arising LAP‐domain‐specific mutations (2004) (21)
De novo balanced translocation (6 ; 18) (q21 ; q21.3) in a patient with heterotaxia (1996) (21)
EC syndrome In a girl with paracentric inversion (7)(q22A;q36.3) (1993) (21)
Isolation and localization of an IDDMK1,2-22-related human endogenous retroviral gene, and identification of a CA repeat marker at its locus (1999) (21)
Monozygotic twins with discordant sexual phenotypes due to different ratios of mosaicism of 47,X,idic(Y),idic(Y)/46,X, idic(Y)/45,X. (2002) (21)
A tetraploid liveborn neonate: cytogenetic and autopsy findings. (2003) (20)
No detectable genomic aberrations by BAC array CGH in Kabuki make‐up syndrome patients (2006) (20)
Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting. (2003) (20)
Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family. (2000) (20)
Penta X syndrome: a case report with review of the literature. (1991) (20)
On the conflicting reports of imprinting status of mouse ATP10a in the adult brain: strain-background-dependent imprinting? (2003) (20)
Zollinger-Ellison syndrome with Marden-Walker syndrome. Association of two rare diseases in a 5-year-old girl. (1979) (20)
Phenotype-genotype correlation in two patients with 12q proximal deletion (2004) (20)
Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32. (2004) (20)
Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16 (2002) (20)
Promoter‐specific insulin‐like growth factor 2 gene imprinting in human fetal liver and hepatoblastoma (1998) (20)
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family (2008) (19)
Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease. (1998) (19)
Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family. (2001) (19)
Mapping of the α-1,6-fucosyltransferase gene, FUT8, to human chromosome 14q24.3 (1999) (18)
Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization. (1994) (18)
Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet (1997) (18)
Ring chromosome 11 [46,XX,r(11) (p15q25)] associated with clinical features of the 11q- syndrome. (1981) (18)
[Kabuki make-up (Niikawa-Kuroki) syndrome]. (2001) (17)
Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q. (2001) (17)
Functional disomy for Xq22‐q23 in a girl with complex rearrangements of chromosomes 3 and X (2003) (17)
A 4q21‐q22 deletion in a girl with severe growth retardation (2002) (17)
Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies. (1991) (17)
Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: A new clinical entity? (2004) (17)
Cancer-associated alternative usage of multiple promoters of human GalCer sulfotransferase gene. (2000) (16)
A Novel Missense Mutation in Van der Woude Syndrome: Usefulness of Fingernail DNA for Genetic Analysis (2006) (16)
Two Nonsense Mutations of PAX6 in Two Japanese Aniridia Families: Case Report and Review of the Literature (2000) (16)
Assignment of the human β-microseminoprotein gene (MSMB) to chromosome 10q11.2 (1996) (16)
Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome (2005) (16)
Assignment of the human GLI2 gene to 2q14 by fluorescence in situ hybridization. (1996) (16)
A simple and efficient amplification method of DNA with unknown sequences and its application to microdissection/microcloning. (1992) (15)
Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene. (2009) (15)
De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment (2008) (15)
Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis. (1996) (15)
Clinical characteristics of Angelman syndrome patients with a non‐IC‐deleted imprinting mutation (1999) (15)
Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions (2005) (15)
Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array. (2010) (15)
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome (2010) (15)
The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting (1993) (15)
Dystrophin isoforms expressed in the mouse retina (1993) (15)
A locus for ophthalmo‐acromelic syndrome mapped to 10p11.23 (2009) (15)
Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus. (2002) (15)
Exclusion mapping of the Cohen syndrome gene from the Prader‐Willi syndrome locus (1990) (15)
Microdissection and microcloning of genomic DNA markers from human chromosomal region 11q23. (1993) (14)
GABAA receptor beta 3 subunit gene is possibly paternally imprinted in humans. (1994) (14)
Fragile X syndrome in Japanese patients with infantile autism. (1987) (14)
Genomic Organization and Chromosomal Assignment of the Human β1,4-N-Acetylgalactosaminyltransferase Gene (1996) (14)
Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs (1991) (14)
Identification, characterization and mapping of the human ZIS (zinc-finger, splicing) gene. (1998) (14)
In vivo kinetics of transduced cells in peripheral T cell-directed gene therapy: role of CD8+ cells in improved immunological function in an adenosine deaminase (ADA)-SCID patient. (1999) (14)
Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization. (1995) (14)
Angelman syndrome caused by an identical familial 1,487‐kb deletion (2007) (14)
Japanese map of the earwax gene frequency: a nationwide collaborative study by Super Science High School Consortium (2009) (13)
Molecular analysis of a patient with Beckwith-Wiedemann syndrome, rhabdomyosarcoma and renal cell carcinoma (1994) (13)
Clinical and cytogenetic studies of the Prader-Willi syndrome: Evidence of phenotype-karyotype correlation (2004) (13)
Trizygotic pregnancy consisting of two fetuses and a complete hydatidiform mole with dispermic androgenesis. (1999) (13)
Origin of acrocentric trisomies in spontaneous abortuses (1977) (13)
Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1. (2001) (13)
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy (2004) (13)
Colocalization of doublecortin with the microtubules: an ex vivo colocalization study of mutant doublecortin. (2000) (13)
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan (2008) (13)
Isolation and mapping of microsatellites from a library microdissected from the Werner syndrome region, 8p11.2–p22 (1993) (12)
Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions. (1994) (12)
Genomic cloning and localization to chromosome 11p15.5 of the human achaete-scute homolog 2 (ASCL2). (1996) (12)
Heme requirement for production of active endothelial nitric oxide synthase in baculovirus-infected insect cells. (1995) (12)
Large deletion involving the 5′‐UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia (2005) (12)
Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome. (1993) (12)
Localization of the human prealbumin gene to 18p11.1-q12.3 by gene dose effect study of Southern blot hybridization (1986) (12)
A comparison of GC content and the proportion of Alu/KpnI-repetitive sequences in a single dark- and light-band region from a human chromosome. (1994) (11)
Clinical Relevance of Biological Variation of B-type Natriuretic Peptide (2005) (11)
Six dinucleotide repeat polymorphisms on chromosome 7 (1994) (11)
Complex chromosome rearrangements: Report of three patients (1988) (11)
[Kabuki make-up syndrome]. (1996) (11)
Origin of the extra chromosome in trisomy 18 (1988) (11)
Origin of extra chromosome in Patau syndrome (2004) (11)
Trisomy 13/trisomy 18 mosaicism in an infant (1996) (10)
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia (2008) (10)
The growth hormone receptor gene mutation of a japanese patient with laron syndrome (1997) (10)
Sequential Q- and acridine orange-marker technique (1975) (10)
Genetic association between chromosome 8 microsatellite (MS8-134) and Werner syndrome (WRN): chromosome microdissection and homozygosity mapping. (1995) (10)
Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization (1993) (10)
StyI polymorphism at the D15S11 locus. (1990) (10)
Crossed polydactyly type I in a mother and son: an autosomal dominant trait? (1991) (10)
Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2 (1991) (10)
The Prader-Willi syndrome and interstitial deletion of chromosome 15: High-resolution chromosome analyses of 14 patients with the Prader-Willi syndrome and of 5 suspected infants (1984) (10)
Primary congenital glaucoma in a patient with trisomy 2q (q33----qter) and monosomy 9p(p24----pter). Case report. (1987) (10)
Parental origin and mechanism of formation of X chromosome structural abnormalities: Four cases determined with RFLPs (1990) (10)
The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting. (2002) (10)
Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family. (2005) (10)
Cell-free DNA is more sensitive than cell-free mRNA as a marker for evaluation of fetal-maternal hemorrhage. (2006) (9)
TRISOMY IN ABORTION MATERIAL (1973) (9)
Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings (1978) (9)
Genomic imprinting and its relevance to genetic diseases (1996) (9)
Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA. (2008) (9)
The possibility of microarray‐based analysis using cell‐free placental mRNA in maternal plasma (2010) (9)
Ph1‐positive and Ph1‐negative abnormal cell lines in a child with lymphoblastic lymphoma (1984) (9)
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. (1997) (9)
Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting. (1996) (9)
Characterization of the promoter region, first ten exons and nine intron-exon boundaries of the DNA-dependent protein kinase catalytic subunit gene, DNA-PKcs (XRCC7). (1997) (8)
A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3‐p11.2 (2006) (8)
Mapping of the alpha-1,6-fucosyltransferase gene, FUT8, to human chromosome 14q24.3. (1999) (8)
Japanese kindred with FG syndrome. (1994) (8)
Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature. (2001) (8)
A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: report of a Thai family. (2002) (8)
Assignment of the human beta-microseminoprotein gene (MSMB) to chromosome 10q11.2. (1996) (8)
FISH mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia (1997) (8)
Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency. (1990) (7)
Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis. (2000) (7)
A molecular deletion study with Southern hybridization on typical Prader-Willi syndrome (PWS) patients with various chromosome abnormalities involving 15q11–12 and on an atypical PWS patient with apparently normal karyotype (1988) (7)
A triploid human abortus due to dispermy (2004) (7)
Guidelines for Genetic Testing, Using DNA Analysis (1996) (7)
A partial hydatidiform mole with 2N/3N mosaicism identified by molecular analysis (1996) (7)
The structural organization of the human aldehyde reductase gene, AKR1A1, and mapping to chromosome 1p33→p32 (1999) (7)
Partial Trisomy 22 with Dandy‐Walker Malformation (1990) (7)
Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype (2006) (7)
Cloning and characterization of a novel human gene, TM4SF6, encoding a protein belonging to the transmembrane 4 superfamily, and mapped to Xq22. (1998) (7)
A 15-year-old girl with pubertal masculinization due to bilateral gonadoblastoma and 45,X/46,X,+mar karyotype. (1994) (7)
Unmasking 15q12 deletion using microarray‐based comparative genomic hybridization in a mentally retarded boy with r(Y) (2004) (6)
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1. (2010) (6)
[Bardet-Biedl syndrome(BBS)]. (2000) (6)
A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. (1990) (6)
A 4‐Mb critical region for intrauterine growth retardation at 15q26 (2002) (6)
Hand‐foot‐genital syndrome with a 7p15 deletion: Clinically recognizable syndrome (2012) (6)
Genomic imprinting relevant to genetic diseases. (1997) (6)
Eight novel microsatellite markers in the 3′ region of the dystrophin gene useful for diagnosis of Duchenne muscular dystrophy (2004) (6)
Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity (2004) (6)
Toenails: An Easily Accessible and Long-Term Stable Source of DNA for Genetic Analyses in Large-Scale Epidemiological Studies (2007) (5)
Satellited chromosome 9 in a boy with multiple anomalies (1989) (5)
A reliable method for obtaining high-resolution banded chromosome preparations from chorionic villus samples (1990) (5)
The human HCLS1 gene maps to chromosome 3q13 by fluorescence in situ hybridization. (1996) (5)
mat mosaicism in a girl with Silver-Russell syndrome ( SRS ) : possible exclusion of the putative SRS gene from a 7 p 13-q 11 region (1999) (5)
Cryptomicrotia and short, stubby fingers with excess fingertip arch patterns in a mother and son. (1988) (5)
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. (1997) (5)
13q-/r(13) mosaicism. (1980) (5)
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions (2012) (5)
Clinical applications of plasma circulating mRNA analysis in cases of gestational trophoblastic disease. (2005) (5)
Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies (2005) (5)
Isolation of region-specific cosmids by hybridization with microdissection clones from human chromosome 10q11.1-q21.1. (1993) (5)
13q-/r(13) mosaicism (1981) (5)
Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa (2000) (5)
Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia (2002) (5)
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1 (1997) (5)
A girl with Down syndrome and partial trisomy for 21pter‐q22.13: A clue to narrow the Down syndrome critical region (2008) (5)
Predisposition to autoimmune thyroiditis in ring chromosome 18 syndrome (1984) (5)
Confirmation of Down syndrome critical region by FISH analysis in a patient with add(21) (p11) (1995) (4)
XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation (1991) (4)
Comparative reverse transcription-polymerase chain reaction and in situ hybridization analyses of human imprinted p57KIP2 and insulin-like growth factor 2 gene transcripts in fetal kidney and Wilms' tumors using archival tissue. (1998) (4)
Guidelines for genetic testing. The Japan Society of Human Genetics, Council Committee of Ethics. (2001) (4)
Gene-deletion and carrier detections, and prenatal diagnosis of Duchenne muscular dystrophy by analysis of the dystrophin gene amplified by polymerase chain reaction (1991) (4)
Whole-arm translocation between homologous chromosomes 7 in a woman with successive spontaneous abortions (2004) (4)
Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families (2011) (4)
No parental origin bias for the rearranged chromosomes in myeloid leukemias associated with t(9;22), t(8;21) and t(15;17). (1998) (4)
A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12 (2010) (4)
SATELLITE-STALK STAINING OF HUMAN CHROMOSOMES (1975) (4)
PvuII RFLPs in the DMD gene detected by a subclone (cDMD1a) of the cDNA. (1990) (4)
Maternal uniparental disomy for chromosome 14 with diabetes mellitus. (2002) (4)
Deletion Pattern in the 21‐Hydroxylase Gene Detected by Polymerase Chain Reaction (1991) (4)
MLL2 and KDM6A Mutations in Patients With (2013) (4)
Repeat-directed isolation of a novel gene preferentially expressed from the maternal allele in human placenta (1999) (4)
Circulating cell-free placental mRNA in the maternal plasma as a predictive marker for twin-twin transfusion syndrome. (2007) (4)
A case of congenital asymmetry associated with trisomy 18 mosaicism. (1972) (4)
Gonadotropin Deficiency as a Significant Association of Complex Glycerol Kinase Deficiency: A Case Report with Cytogenetic and Molecular‐Genetic Studies (1988) (3)
Acrodysostosis with unusual iridal color changing with age (2007) (3)
[Wolf-Hirschhorn syndrome, cat cry syndrome]. (1996) (3)
Mutchinick syndrome in a Japanese girl. (1999) (3)
Reply to letter to the editor by Schrander-Stumpel--"what's in a name?". (1999) (3)
[Prader-Willi syndrome]. (2001) (3)
De novo balanced translocation (6;18)(q21;q21.3 or q22) [corrected] in a patient with heterotaxia. (1996) (3)
[Glycerol kinase deficiency]. (1988) (3)
Isolation of microdissection clones from rat Chromosome 10 (1995) (3)
Acrodysostosis and blue eyes (1980) (3)
Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings (2004) (3)
Fifty novel sequence-tagged sites (STSs) on human chromosome 11q13.4-->q25 identified from microclones generated by microdissection. (1995) (3)
Physical map of a YAC contig containing the region of the human gene (HYRC) complementing hyper-radiosensitivity of the scid mouse mutation (1996) (2)
DNA-based diagnosis of genetic diseases (1991) (2)
Visible integration of the adenosine deaminase (ADA) gene into the recipient genome after gene therapy. (1998) (2)
Pre‐ and postnatal overgrowth in a patient with proximal 4p deletion (2008) (2)
DNA deletion in patients with von Recklinghausen neurofibromatosis (1992) (2)
Possible Genomic Imprinting at the Angelman Syndrome Gene Locus (1992) (2)
Assignment of the human connexin43 gene, GJA1, to chromosome 6q22.3 (1997) (2)
X‐linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3 (2005) (2)
A SacII polymorphism in the human ASCL2 (HASH2) gene region (1998) (2)
Painting of Chinese hamster chromosomes with chromosome specific probes constructed by microdissection and sorting (1995) (2)
[The GABAA receptor beta 3-subunit gene (GABRB3) as a candidate responsible for central nerve disturbances in Angelman syndrome (AS)]. (1993) (2)
A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome? (2002) (2)
A DraI RFLP detected for probe pIR4-3R [D15S11] on chromosome 15q. (1991) (2)
An unusual case of blood group ABO inheritance: O from AB X O. (1982) (2)
A Mutation in the GH-receptor Gene of a Japanese Patient with Laron Syndrome (1997) (2)
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p. (2012) (1)
[Positional cloning of the putative gene responsible for transient abnormal myelopoiesis and that for multiple cartilaginous exostoses]. (1996) (1)
Skewed X-inactivation in a tumor tissue from a female patient with leiomyomatosis. (1995) (1)
A Comparison of Characteristics in 33 Japanese and 83 American Patients with Prader-Willi Syndrome (1992) (1)
-Special Report- A Genetic Counseling System in Nagasaki Prefecture: The Course and Current Status of the Genetic Counseling Unit in Nagasaki University Hospital (2001) (1)
[Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. (1996) (1)
Isolation of 2 novel RFLP markers and their localization at 2q35 by microdissection and subsequent enzymatic amplification (1992) (1)
RFLPs of 21-hydroxylase and C4 genes: application to pedigree analysis on 21-hydroxylase deficiency. (1988) (1)
Association of the Klippel-Feil sequence with frontonasal dysplasia sequence. (1983) (1)
No mutation in RAS‐MAPK pathway genes in 30 patients with Kabuki syndrome (2008) (1)
General contribution (1993) (1)
Transfer Factor Therapy in Patients with HBs Ag Positive Chronic Hepatitis (1981) (1)
An ApaI RFLP for the human porphobilinogen deaminase gene (PBGD). (1991) (1)
Contiguous Gene Syndromes as Multiple Anomalies Syndromes: Molecular Basis and Approach to Gene Cloning (1990) (1)
Micro extraction of DNA from whole blood and amniocytes (1989) (1)
Identification of de novo chromosome rearrangements: five cases analyzed with differential chromosome painting. (2002) (1)
Two polymorphic AvaI and HhaI sites in a differentially methylated region of the human H19 gene (1996) (1)
Cosmid clones from microdissected human chromosomal region 15q11–q13 (1993) (1)
Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase deficiency (1988) (0)
[Protective management for genetic information]. (2005) (0)
Morphogenesis and genomic imprinting : Abstracts of Papers Presented at the Thirty-Second Annual Meeting of the Japanese Teratology Society Tokyo, Japan, July 8-10, 1992 (1992) (0)
[Fragile X syndrome]. (1996) (0)
Probe for the diagnosis of Marfan syndrome, as well as methods for screening with the probe (2005) (0)
Cloning, expression and mapping of human cationic amino acid transporter (1996) (0)
Title A Genome-wide Linkage Analysis and Mutation Analysis of HereditaryCongenital Blepharoptosis in a Japanese Family (2017) (0)
[Genomic imprinting and its related diseases]. (1997) (0)
[Marden-Walker syndrome]. (2001) (0)
A genomic mechanism allowing one member of a pair of monozygotic twins to escape suffering from schizophrenia (1998) (0)
[Clinical molecular-genetics for endocrine and metabolic diseases]. (1989) (0)
Letter: Satellite-stalk staining of human chromosomes. (1975) (0)
[Congenital malformation and chromosome (author's transl)]. (1978) (0)
[Studies on phenotype, development, and viability of human spontaneous abortuses with acrocentric trisomies and polyploidies: with reference to the relationship of the viability to the origin of extrachromosomes (author's transl)]. (1979) (0)
[Beckwith-Wiedemann syndrome]. (2000) (0)
Letter: Trisomy in abortion material. (1973) (0)
[Jarcho-Levin syndrome]. (2000) (0)
[Gene responsible for Waardenburg syndrome type I]. (1993) (0)
[Genetic counselling]. (1983) (0)
Mortality by Cause of Death of Survivors in Nagasaki at Early Time of A-bomb Explosion. (1993) (0)
A further improved method for identifying heteromorphism of acrocentric chromosomes (1986) (0)
Prader-Willi syndrome: Consideration of a question in its clinical, cytogenetic and molecular aspects (1990) (0)
[Contiguous gene syndromes]. (2000) (0)
Are Monozygotic Twins Discordant for Psychosis Caused by Differential Methylation (2001) (0)
DNA polymorphisms within the porphobilinogen deaminase gene in acute intermittent porphyria (1990) (0)
[Positional cloning of disease gene]. (2005) (0)
[CATCH22 syndrome]. (1996) (0)
[Mohr-Claussen syndrome]. (1996) (0)
Artificial Reproductive Technology and Human Chimerism (2005) (0)
Title Pharmacogenetics of human ABC transporter ABCC 11 : new insights intoapocrine gland growth and metabolite secretion (2018) (0)
Genetic Counseling System in Nagasaki University Hospital and Genetic Services in Nagasaki Prefecture-Now and Future (2002) (0)
Cause of Death of A-bomb survivors in Nagasaki at early times of A-bomb explosion (1994) (0)
[Cohen syndrome]. (2001) (0)
With gratitude to the anonymous reviewers (1996) (0)
Microdissection of human high resolution banded chromosome, polymerase chain reaction and microcloning. (1991) (0)
Parental origin and mechanism of formation of polysomy X: an X X X X X case and four X X X X Y cases determined with RFLPs (0)
Evidence for Association of the rs17822931-A Allele in ABCC11 with a Decreased Risk of Estrogen Receptor-negative Breast Cancer (2012) (0)
Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization (2007) (0)
Subject Index Vol. 84, 1999 (1999) (0)
Restriction fragment length polymorphisms in the 5′ end region of the human argininosuccinate synthetase gene (1986) (0)
a Possible Narrowed Assignment of the Loci of Monosomy 21-Associated Microcephaly and Intrauterine Growth Retardation to a 1 . 2Mb Segment (2006) (0)
Response to Dr. Kunze (1986) (0)
[Strategy for molecular diagnosis of Duchenne muscular dystrophy: alleles frequency in RFLPs detected with X-linked probes in normal Japanese]. (1989) (0)
[Cerebral gigantism]. (2006) (0)
Origin and mechanism of mixoploidy composed of 45,x and 47,xx,+ 21 cell lines in a fetus (1997) (0)
Relationships between low dose A-bomb radiation and examination results (1994) (0)
[Positional cloning of anomaly-syndrome-causing genes]. (2001) (0)
Construction of rice chromosome specific DNA libraries using chromosome microdissection technique and its application for mapping (2000) (0)
Isolation of the gene, PAX3, responsible for Waardenburg syndrome type I, and identification of two novel mutations in WSI families (1996) (0)
A HhaI/BstUI polymorphism in a novel gene at human chromosome 11p15.5 (1998) (0)
Symposium III. Recent Advances in Molecular Cytogenetics (1992) (0)
Unsuccessful Identification of Mutations in Genes Involving the RAS-MAPK Pathway among 30 Patients with Kabuki Syndrome (2008) (0)
[Genomic imprinting]. (1996) (0)
Subject Index, Vol. 73, 1996 (1996) (0)
Subject Index Vol. 64, 1993 (1993) (0)
Subject Index Vol. 62, Suppl. 3, 2004 (2004) (0)
Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants (2022) (0)
A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene (2017) (0)
Letter to the Editors (1983) (0)
A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndorome Critical Region (PWCR) (2000) (0)
Differential genome analysis between monozygotic twins discordant for schizophrenia using the IGCR procedure (1996) (0)
Self-Scratching Injuries on the Newborn's Face. (1984) (0)
[Identification of aneuploids in uncultured amniotic fluid cells by interphase fluorescence in situ hybridization]. (1998) (0)
13S+. Giant satellites or de novo rearrangement? (2004) (0)
A eulogy to the late Dr. Shiro Miwa (2006) (0)
Circulating Cell-Free Placental mRNA in the Maternal Plasma as a Predictive Marker for Twin-Twin Transfusion Syndrome To the Editor: Twin-twin transfusion syndrome (2007) (0)
Genomic cloning and localization of the human achaete-scute homolog 2 (ascl2) to chromosome llp15.5 (1997) (0)
A BsaBI RFLP detected for probe pML34 [D15S9] on chromosome 15q. (1991) (0)
Standard Growth Curves in Prader-Willi Syndrome in Japan (1993) (0)
[Molecular-genetic approach to congenital malformation syndromes]. (1999) (0)
Choline Concentration in Normal Blood Donor and Cardiac Troponin- Positive Plasma Samples (2006) (0)

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