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List of works by Tatsuya Kishino

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 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

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

scientific article published on 01 June 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

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

scientific article published on 27 November 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

scientific article published on 21 January 2006

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

scientific article

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

scientific article published on 7 November 2007

Haploinsufficiency of NSD1 causes Sotos syndrome

scientific article

Heterozygous TGFBR2 mutations in Marfan syndrome

scientific article

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

scientific article published on 24 September 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.

scientific article published on 3 April 2009

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

scientific article (publication date: 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

scientific article published on 25 October 2005

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

scientific article published in January 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

scientific article

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

scientific article

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

scientific article

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