Lista de obras -

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

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

artículo científico publicado en 2008

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

artículo científico publicado en 2010

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

Haploinsufficiency of NSD1 causes Sotos syndrome

artículo científico publicado en 2002

Heterozygous TGFBR2 mutations in Marfan syndrome

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

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

artículo científico publicado en 2002

Oxytocin receptor signaling contributes to olfactory avoidance behavior induced by an unpleasant odorant.

artículo científico publicado en 2018

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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

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

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

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

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

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

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.

Haploinsufficiency of NSD1 causes Sotos syndrome

Heterozygous TGFBR2 mutations in Marfan syndrome

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

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

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

Oxytocin receptor signaling contributes to olfactory avoidance behavior induced by an unpleasant odorant.

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

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

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