List of works by Norio Niikawa

9q34.3 deletion syndrome in three unrelated children.

scientific article published in April 2004

A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome

scientific article published on 16 July 2004

A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene

scientific article published on 01 October 2017

A SNP in the ABCC11 gene is the determinant of human earwax type

scientific article

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?

scientific article published on 01 April 2002

A ZRS duplication causes syndactyly type IV with tibial hypoplasia

scientific article published on 01 February 2009

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

scientific article

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway

scientific article

A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: report of a Thai family

scientific article published on 01 August 2002

A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2.

scientific article published in February 2006

A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region

A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

scientific article published on 01 March 2009

A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate

scientific article (publication date: May 2006)

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet

scientific article

A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome

scientific article published on 01 April 2003

A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.

scientific article

A reliable method for obtaining high-resolution banded chromosome preparations from chorionic villus samples

A second generation human haplotype map of over 3.1 million SNPs

scientific article

A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland

A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene

scientific article

A syndactyly type IV locus maps to 7q36.

scientific article

A tetraploid liveborn neonate: cytogenetic and autopsy findings

scientific article published in December 2003

A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12

scientific article published on 15 January 2010

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with newly proposed classification and expanding the phenotypic spectrum of variants

scientific article published in 2022

Acrodysostosis with unusual iridal color changing with age.

scientific article published in September 2007

Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype

scientific article

Angelman syndrome caused by an identical familial 1,487-kb deletion

scientific article

Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes

scientific article published on 01 September 2006

Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese

scientific article

Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting

scientific article published on 01 June 2003

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

scientific article published in February 2006

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

scientific article

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones

scientific article (publication date: 2002)

Cell-free DNA is more sensitive than cell-free mRNA as a marker for evaluation of fetal-maternal hemorrhage

scientific article published on 01 November 2006

Circulating cell-free placental mRNA in the maternal plasma as a predictive marker for twin-twin transfusion syndrome

scientific article published on 01 June 2007

Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.

scientific article published on 10 February 2011

Clinical applications of plasma circulating mRNA analysis in cases of gestational trophoblastic disease

scientific article published on 28 April 2005

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature

article

Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause.

scientific article published in September 2006

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome

article

Clinical spectrum and molecular diagnosis of Angelman and Prader‐Willi syndrome patients with an imprinting mutation

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

scientific article published on 01 August 2003

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family

scientific article published in January 2002

Congenital arhinia: molecular-genetic analysis of five patients.

scientific article published in March 2007

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.

scientific article published in January 2008

Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene.

scientific article published on 27 November 2008

Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?

scientific article

Duplication of 8p23.2: a benign cytogenetic variant?

scientific article published on 01 August 2002

Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?

scientific article

Eight novel microsatellite markers in the 3' region of the dystrophin gene useful for diagnosis of Duchenne muscular dystrophy

scientific article published on 01 December 2004

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies.

scientific article

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

scientific article

Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain

scientific article published on 21 January 2006

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array

scientific article

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

scientific article

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

scientific article published on 01 May 2005

Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X.

scientific article published in August 2003

Genome-wide detection and characterization of positive selection in human populations

scientific article

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.

scientific article published on 7 November 2007

Hand-foot-genital syndrome with a 7p15 deletion: Clinically recognizable syndrome

article by Kana Hosoki et al published 28 May 2012 in Pediatrics International

Haploinsufficiency of NSD1 causes Sotos syndrome

scientific article

Heterozygous TGFBR2 mutations in Marfan syndrome

scientific article

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

scientific article published on 24 July 2014

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

scientific article

Identification of de novo chromosome rearrangements: five cases analyzed with differential chromosome painting

scientific article published on March 2002

Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32.

scientific article

Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomy.

scientific article

Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.

scientific article published in July 2003

Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?

scientific article published on 01 June 2004

Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

scientific article published on 15 August 2007

KDM6A point mutations cause Kabuki syndrome

scientific article

Kabuki make-up syndrome: a review

scientific article

Kabuki syndrome: international consensus diagnostic criteria

scientific article published on 04 December 2018

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density

scientific article published on 15 January 2004

Labor increases maternal DNA contamination in cord blood.

scientific article

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia

scientific article published on 01 February 2005

Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome.

scientific article

MLL2 and KDM6A mutations in patients with Kabuki syndrome

scientific article published on 02 August 2013

Mapping human genetic diversity in Asia

scientific article

Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.

scientific article

Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus

scientific article published on 01 July 2002

Maternal uniparental disomy for chromosome 14 with diabetes mellitus.

scientific article published in September 2002

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

scientific article published on 19 April 2006

Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia

scientific article published on 07 August 2008

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum

scientific article published on 19 April 2007

Molecular basis of Sotos syndrome

scientific article

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

scientific article published on 01 July 2005

Molecular characterization of inv dup del(8p): analysis of five cases

scientific article published on 01 July 2004

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

scientific article published on 3 April 2009

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.

scientific article published in August 2002

Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families

scientific article published on 10 February 2011

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

scientific article

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome

scientific journal article

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

scientific article published on 08 March 2012

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

scientific article

NECC1, a candidate choriocarcinoma suppressor gene that encodes a homeodomain consensus motif

scientific article (publication date: 2003)

NECC1, a candidate choriocarcinoma suppressor gene that encodes a homeodomain consensus motif☆☆Sequence data from this article have been deposited with the DDBJ/EMBL/GenBank Data Libraries under Accession No. AB059410

scientific article (publication date: 2003)

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

scientific article

Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air

scientific article published on 21 July 2005

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients

scientific article published on 01 February 2006

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

scientific article published on 01 July 2008

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

scientific article (publication date: 2002)

Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.

scientific article published on 19 July 2005

On the conflicting reports of imprinting status of mouse ATP10a in the adult brain: strain-background-dependent imprinting?

scientific article

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

scientific article published on 01 July 2004

Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses

scientific article published on 01 August 2006

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

scientific article published on 25 October 2005

Parental origin and mechanism of formation of X chromosome structural abnormalities: Four cases determined with RFLPs

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

scientific article published on 14 February 2007

Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions

scientific article

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion

scientific article published in 2012

Phenotype-genotype correlation in two patients with 12q proximal deletion

scientific article published in January 2004

Placental mRNA in maternal plasma and its clinical application to the evaluation of placental status in a pregnant woman with placenta previa-percreta.

scientific article

Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.

scientific article

Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?

article

Pre- and postnatal overgrowth in a patient with proximal 4p deletion

scientific article published on 01 March 2008

Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA

scientific article published on 01 October 2008

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome

scientific article

Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D

scientific article published on 01 February 2009

Primary palmar hyperhidrosis locus maps to 14q11.2-q13.

scientific article

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

scientific article

Quantitative structure--activity relationship analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1 (P-glycoprotein/MDR1).

scientific article published on 9 June 2007

Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb10.

scientific article published on 13 November 2006

SMOC1 is essential for ocular and limb development in humans and mice

scientific article

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

scientific article

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

scientific article published on 7 January 2005

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

scientific article

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations

scientific article published on 01 May 2004

The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus

scientific article

The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting

scientific article

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.

scientific article

The human ASCL2 gene escaping genomic imprinting and its expression pattern

scientific article

The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain

scientific article

The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma.

scientific article

Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p

scientific article published on 29 May 2012

Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome

scientific article published in October 2004

Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome ⬇️

scientific article published on 01 September 2010

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome

scientific article published on August 2005

Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y)

X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3.

scientific article

[Cerebral gigantism]

scientific article published on 01 May 2006

[Positional cloning of disease gene]

scientific article published on 01 December 2005

[Protective management for genetic information]

scientific article published on 01 March 2005

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