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Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

Clinical genetics, 2016-01, Vol.89 (1), p.115-119

2016

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Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a

Human molecular genetics, 2003-04, Vol.12 (8), p.837-847

2003

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A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

Journal of medical genetics, 2004-07, Vol.41 (7), p.e97-e97

2004

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Involvement of claudin-1 in the beta-catenin/Tcf signaling pathway and its frequent upregulation in human colorectal cancers

Oncology research, 2001-01, Vol.12 (11-12), p.469

2001

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Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

American journal of human genetics, 2001-01, Vol.68 (1), p.81-91

2001

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Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism

Journal of medical genetics, 2004-04, Vol.41 (4), p.289-292

2004

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Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.45-48

2005

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

Journal of human genetics, 2002-01, Vol.47 (2), p.77-79

2002

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A Novel Missense Mutation in Van der Woude Syndrome: Usefulness of Fingernail DNA for Genetic Analysis

Journal of dental research, 2006-12, Vol.85 (12), p.1143-1146

2006

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Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome

American journal of medical genetics. Part A, 2006-08, Vol.140A (15), p.1623-1627

2006

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PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse

Human genetics, 2003-05, Vol.112 (5-6), p.573-580

2003

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Down-regulation of ABCC11 protein (MRP8) in human breast cancer

Experimental oncology, 2011-03, Vol.33 (1), p.42

2011

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Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions

Journal of medical genetics, 2005-11, Vol.42 (11), p.e66-e66

2005

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Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome

Journal of clinical pathology, 2006-10, Vol.59 (10), p.1084-1086

2006

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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

Journal of human genetics, 2002-09, Vol.47 (9), p.478-483

2002

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Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

Journal of medical genetics, 2004-02, Vol.41 (2), p.130-136

2004

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Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

Journal of medical genetics, 2008-07, Vol.45 (7), p.479-480

2008

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Kabuki make-up syndrome: A review

American journal of medical genetics, 2003-02, Vol.117C (1), p.57-65

2003

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Heterozygous TGFBR2 mutations in Marfan syndrome

Nature genetics, 2004-08, Vol.36 (8), p.855-860

2004

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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

Journal of medical genetics, 1999-04, Vol.36 (4), p.326-329

1999

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

Journal of human genetics, 2002-08, Vol.47 (8), p.395-399

2002

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Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

American journal of human genetics, 2005-01, Vol.76 (1), p.52-67

2005

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Identification of eight novel NSD1 mutations in Sotos syndrome

Journal of medical genetics, 2003-11, Vol.40 (11), p.e126-126

2003

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Haploinsufficiency of NSD1 causes Sotos syndrome

Nature genetics, 2002-04, Vol.30 (4), p.365-366

2002

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Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a

A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

Involvement of claudin-1 in the beta-catenin/Tcf signaling pathway and its frequent upregulation in human colorectal cancers

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism

Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment

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

A Novel Missense Mutation in Van der Woude Syndrome: Usefulness of Fingernail DNA for Genetic Analysis

Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse

Down-regulation of ABCC11 protein (MRP8) in human breast cancer

Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome

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

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

Kabuki make-up syndrome: A review

Heterozygous TGFBR2 mutations in Marfan syndrome

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

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

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

Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

Identification of eight novel NSD1 mutations in Sotos syndrome

Haploinsufficiency of NSD1 causes Sotos syndrome

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