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