Works matching IS 14345161 AND DT 2012 AND VI 57 AND IP 12

Results: 14

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 810, doi. 10.1038/jhg.2012.125

By:

Agostinho, Luciana de A;
Rocha, Catielly F;
Medina-Acosta, Enrique;
Barboza, Hazel N;
da Silva, Antônio F Alves;
Pereira, Simão P F;
da Silva, Iane dos Santos;
Paradela, Eduardo R;
Figueiredo, André L dos S;
Nogueira, Eduardo de M;
Alvarenga, Regina M P;
Hernan Cabello, Pedro;
dos Santos, Suely R;
Paiva, Carmen L A

Publication type:

Article

A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 766, doi. 10.1038/jhg.2012.108

By:

Elgazzar, Seham;
Zembutsu, Hitoshi;
Takahashi, Atsushi;
Kubo, Michiaki;
Aki, Fuminori;
Hirata, Koichi;
Takatsuka, Yuichi;
Okazaki, Minoru;
Ohsumi, Shozo;
Yamakawa, Takashi;
Sasa, Mitsunori;
Katagiri, Toyomasa;
Miki, Yoshio;
Nakamura, Yusuke

Publication type:

Article

Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 807, doi. 10.1038/jhg.2012.112

By:

Ishige, Takayuki;
Sawai, Setsu;
Itoga, Sakae;
Sato, Kenichi;
Utsuno, Emi;
Beppu, Minako;
Kanai, Kazuaki;
Nishimura, Motoi;
Matsushita, Kazuyuki;
Kuwabara, Satoshi;
Nomura, Fumio

Publication type:

Article

Tandem repeat sequences evolutionarily related to SVA-type retrotransposons are expanded in the centromere region of the western hoolock gibbon, a small ape.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 760, doi. 10.1038/jhg.2012.107

By:

Hara, Toru;
Hirai, Yuriko;
Jahan, Israt;
Hirai, Hirohisa;
Koga, Akihiko

Publication type:

Article

Is the prevalence of MTHFR C677T polymorphism associated with ultraviolet radiation in Eurasia?

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 780, doi. 10.1038/jhg.2012.113

By:

Yafei, Wang;
Lijun, Pei;
Jinfeng, Wang;
Xiaoying, Zheng

Publication type:

Article

Variations with modest effects have an important role in the genetic background of type 2 diabetes and diabetes-related traits.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 776, doi. 10.1038/jhg.2012.110

By:

Fujita, Hayato;
Hara, Kazuo;
Shojima, Nobuhiro;
Horikoshi, Momoko;
Iwata, Minoru;
Hirota, Yushi;
Tobe, Kazuyuki;
Seino, Susumu;
Kadowaki, Takashi

Publication type:

Article

A commentary on 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.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 753, doi. 10.1038/jhg.2012.121

By:

Gojobori, Jun

Publication type:

Article

Extended screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 772, doi. 10.1038/jhg.2012.109

By:

Kato, Tomofumi;
Nishigaki, Yutaka;
Noguchi, Yoshihiro;
Fuku, Noriyuki;
Ito, Taku;
Mikami, Eri;
Kitamura, Ken;
Tanaka, Masashi

Publication type:

Article

Variations with modest effects have an important role in the genetic background of type 2 diabetes and diabetes-related traits.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 809, doi. 10.1038/jhg.2012.132

By:

Fujita, Hayato;
Hara, Kazuo;
Shojima, Nobuhiro;
Horikoshi, Momoko;
Iwata, Minoru;
Hirota, Yushi;
Tobe, Kazuyuki;
Seino, Susumu;
Kadowaki, Takashi

Publication type:

Article

A Commentary on Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 755, doi. 10.1038/jhg.2012.122

By:

Ishikawa, Kinya

Publication type:

Article

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 796, doi. 10.1038/jhg.2012.120

By:

Agostinho, Luciana de A;
Rocha, Catielly F;
Medina-Acosta, Enrique;
Barboza, Hazel N;
da Silva, Antônio F Alves;
Pereira, Simão P F;
da Silva, Iane dos Santos;
Paradela, Eduardo R;
Figueiredo, André L dos S;
Nogueira, Eduardo de M;
Alvarenga, Regina M P;
Hernan Cabello, Pedro;
dos Santos, Suely R;
Paiva, Carmen L A

Publication type:

Article

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 756, doi. 10.1038/jhg.2012.103

By:

Li, Lin;
Xiao, Xueshan;
Yi, Changxian;
Jiao, Xiaodong;
Guo, Xiangming;
Hejtmancik, James Fielding;
Zhang, Qingjiong

Publication type:

Article

Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 804, doi. 10.1038/jhg.2012.105

By:

Miyatake, Satoko;
Touho, Hajime;
Miyake, Noriko;
Ohba, Chihiro;
Doi, Hiroshi;
Saitsu, Hirotomo;
Taguri, Masataka;
Morita, Satoshi;
Matsumoto, Naomichi

Publication type:

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.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 787, doi. 10.1038/jhg.2012.114

By:

Jinam, Timothy;
Nishida, Nao;
Hirai, Momoki;
Kawamura, Shoji;
Oota, Hiroki;
Umetsu, Kazuo;
Kimura, Ryosuke;
Ohashi, Jun;
Tajima, Atsushi;
Yamamoto, Toshimichi;
Tanabe, Hideyuki;
Mano, Shuhei;
Suto, Yumiko;
Kaname, Tadashi;
Naritomi, Kenji;
Yanagi, Kumiko;
Niikawa, Norio;
Omoto, Keiichi;
Tokunaga, Katsushi;
Saitou, Naruya

Publication type:

Article