Works matching IS 14345161 AND DT 2011 AND VI 56 AND IP 1

Results: 22

Chromosome 17q21 SNP and severe asthma.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 97, doi. 10.1038/jhg.2010.134

By:

Binia, Aristea;
Khorasani, Nadia;
Bhavsar, Pankaj K;
Adcock, Ian;
Brightling, Chris E;
Chung, K Fan;
Cookson, William O C;
Moffatt, Miriam F

Publication type:

Article

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 34, doi. 10.1038/jhg.2010.132

By:

Kamada, Fumiaki;
Aoki, Yoko;
Narisawa, Ayumi;
Abe, Yu;
Komatsuzaki, Shoko;
Kikuchi, Atsuo;
Kanno, Junko;
Niihori, Tetsuya;
Ono, Masao;
Ishii, Naoto;
Owada, Yuji;
Fujimura, Miki;
Mashimo, Yoichi;
Suzuki, Yoichi;
Hata, Akira;
Tsuchiya, Shigeru;
Tominaga, Teiji;
Matsubara, Yoichi;
Kure, Shigeo

Publication type:

Article

Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 91, doi. 10.1038/jhg.2010.142

By:

Yamazawa, Kazuki;
Nakabayashi, Kazuhiko;
Matsuoka, Kentaro;
Masubara, Keiko;
Hata, Kenichiro;
Horikawa, Reiko;
Ogata, Tsutomu

Publication type:

Article

Association of serotonin transporter gene variation with smoking, chronic obstructive pulmonary disease, and its depressive symptoms.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 41, doi. 10.1038/jhg.2010.133

By:

Ishii, Takeo;
Wakabayashi, Ritsuko;
Kurosaki, Hiroko;
Gemma, Akihiko;
Kida, Kozui

Publication type:

Article

Y-chromosome R-M343 African lineages and sickle cell disease reveal structured assimilation in Lebanon.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 29, doi. 10.1038/jhg.2010.131

By:

Haber, Marc;
Platt, Daniel E;
Khoury, Simon;
Badro, Danielle A;
Abboud, Miguel;
Tyler-Smith, Chris;
Zalloua, Pierre A

Publication type:

Article

Genotype-phenotype associations and human eye color.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 5, doi. 10.1038/jhg.2010.126

By:

White, Désirée;
Rabago-Smith, Montserrat

Publication type:

Article

A new c.1621 C>G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 83, doi. 10.1038/jhg.2010.137

By:

Małek, Łukasz A;
Labib, Sarah;
Mazurkiewicz, Łukasz;
Saj, Michał;
Płoski, Rafał;
Tesson, Frédérique;
Bilińska, Zofia T

Publication type:

Article

SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 47, doi. 10.1038/jhg.2010.141

By:

Aoki, Asako;
Ozaki, Kouichi;
Sato, Hiroshi;
Takahashi, Atsushi;
Kubo, Michiaki;
Sakata, Yasuhiko;
Onouchi, Yoshihiro;
Kawaguchi, Takahisa;
Lin, Tsung-Hsien;
Takano, Hitoshi;
Yasutake, Masahiro;
Hsu, Po-Chao;
Ikegawa, Shiro;
Kamatani, Naoyuki;
Tsunoda, Tatsuhiko;
Juo, Suh-Hang H;
Hori, Masatsugu;
Komuro, Issei;
Mizuno, Kyoichi;
Nakamura, Yusuke

Publication type:

Article

Evidence for epistatic interactions in antiepileptic drug resistance.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 71, doi. 10.1038/jhg.2010.151

By:

Kim, Myeong-Kyu;
Moore, Jason H;
Kim, Jong-Ki;
Cho, Ki-Hyun;
Cho, Yong-Won;
Kim, Yo-Sik;
Lee, Min-Cheol;
Kim, Young-Ok;
Shin, Min-Ho

Publication type:

Article

The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 12, doi. 10.1038/jhg.2010.124

By:

Zhao, Teng;
Liu, Zhe;
Zhang, Di;
Liu, Yun;
Yang, Yifeng;
Zhou, Daizhan;
Chen, Zhuo;
Yu, Lan;
Zhang, Zuofeng;
Feng, Guoyin;
He, Lin;
Xu, He

Publication type:

Article

Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patients.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 58, doi. 10.1038/jhg.2010.144

By:

Bonilla, Carolina;
Lefèvre, Jérémie H;
Winney, Bruce;
Johnstone, Elaine;
Tonks, Susan;
Colas, Chrystelle;
Day, Tammy;
Hutnik, Katarzyna;
Boumertit, Abdelhamid;
Midgley, Rachel;
Kerr, David;
Parc, Yann;
Bodmer, Walter F

Publication type:

Article

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 8, doi. 10.1038/jhg.2010.121

By:

Liao, Hsiao-Mei;
Niu, Dau-Ming;
Chen, Yan-Jang;
Fang, Jye-Siung;
Chen, Shih-Jen;
Chen, Chia-Hsiang

Publication type:

Article

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 80, doi. 10.1038/jhg.2010.125

By:

Fedyna, Alison;
Drayna, Dennis;
Kang, Changsoo

Publication type:

Article

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 52, doi. 10.1038/jhg.2010.143

By:

Fichou, Yann;
Nectoux, Juliette;
Bahi-Buisson, Nadia;
Chelly, Jamel;
Bienvenu, Thierry

Publication type:

Article

Low prevalence of classical galactosemia in Korean population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152

By:

Lee, Beom Hee;
Cheon, Chong Kun;
Kim, Jae-Min;
Kang, Minji;
Kim, Joo Hyun;
Yang, Song Hyun;
Kim, Gu-Hwan;
Choi, Jin-ho;
Yoo, Han-Wook

Publication type:

Article

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 87, doi. 10.1038/jhg.2010.140

By:

Martorell, Loreto;
Nascimento, María T;
Colome, Roser;
Genovés, Jordi;
Naudó, Montserrat;
Nascimento, Andrés

Publication type:

Article

Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 17, doi. 10.1038/jhg.2010.127

By:

Cheng, Xiuyong;
Li, Tongchuan;
Wang, Honglian;
Zhu, Dengna;
Ma, Caiyun;
Ma, Bingxiang;
Wang, Yinghong;
Zhang, Junyu;
Guo, Luo;
Wang, Lei;
Yun, Liu;
Chen, Shiting;
Jiang, Zedong;
He, Lin;
Zhu, Changlian;
Xing, Qinghe

Publication type:

Article

In the new year.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 1, doi. 10.1038/jhg.2010.158

By:

Tokunaga, Katsushi

Publication type:

Article

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 22, doi. 10.1038/jhg.2010.128

By:

Ouechtati, Farah;
Merdassi, Ahlem;
Bouyacoub, Yosra;
Largueche, Leila;
Derouiche, Kaouther;
Ouragini, Houyem;
Nouira, Sonia;
Tiab, Leila;
Baklouti, Karim;
Rebai, Ahmed;
Schorderet, Daniel F;
Munier, Francis L;
Zografos, Leonidas;
Abdelhak, Sonia;
Matri, Leila El

Publication type:

Article

Commentary on 'Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome'.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 4, doi. 10.1038/jhg.2010.145

By:

Okamoto, Nobuhiko

Publication type:

Article

A Japanese trichothiodystrophy patient with XPD mutations.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 77, doi. 10.1038/jhg.2010.123

By:

Usuda, Touhei;
Saijo, Masafumi;
Tanaka, Kiyoji;
Sato, Nobuyuki;
Uchiyama, Makoto;
Kobayashi, Takehiro

Publication type:

Article

Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 64, doi. 10.1038/jhg.2010.147

By:

Sun, Yi;
Chen, Jing;
Sun, Hanjun;
Cheng, Jing;
Li, Jianzhong;
Lu, Yu;
Lu, Yanping;
Jin, Zhanguo;
Zhu, Yuhua;
Ouyang, Xiaomei;
Yan, Denise;
Dai, Pu;
Han, Dongyi;
Yang, Weiyan;
Wang, Rongguang;
Liu, Xuezhong;
Yuan, Huijun

Publication type:

Article