Lista de obras -

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

artículo científico publicado en 2002

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

artículo científico publicado en 2002

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

artículo científico publicado en 2003

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

artículo científico publicado en 2002

Congenital arhinia: molecular-genetic analysis of five patients

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2003

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

artículo científico publicado en 2007

Haploinsufficiency of NSD1 causes Sotos syndrome

artículo científico publicado en 2002

Heterozygous TGFBR2 mutations in Marfan syndrome

artículo científico publicado en 2004

Imprinting analysis by droplet digital PCR coupled with locked nucleic acid TaqMan probes

artículo científico publicado en 2020

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

scientific article published on 01 July 2002

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

scientific article published on 01 July 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2002

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

scientific article published on 01 October 2008

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

artículo científico publicado en 2004

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

artículo científico publicado en 2002

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

artículo científico publicado en 2003

Lista de obras de

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

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

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

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

Congenital arhinia: molecular-genetic analysis of five patients

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

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

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

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

Haploinsufficiency of NSD1 causes Sotos syndrome

Heterozygous TGFBR2 mutations in Marfan syndrome

Imprinting analysis by droplet digital PCR coupled with locked nucleic acid TaqMan probes

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

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

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

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

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

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

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

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

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

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