Works matching IS 14345161 AND DT 2010 AND VI 55 AND IP 1

Results: 16

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 59, doi. 10.1038/jhg.2009.114

By:

Hong-Joon Park;
Hyun-Ju Cho;
Jeong-In Baek;
Tamar Ben-Yosef;
Tae-Jun Kwon;
Griffith, Andrew J.;
Un-Kyung Kim

Publication type:

Article

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 55, doi. 10.1038/jhg.2009.110

By:

Vilarinho, Laura;
Tafulo, Sandra;
Sibilio, Michelina;
Kok, Fernando;
Fontana, Federica;
Diogo, Luisa;
Venâncio, Margarida;
Ferreira, Mariana;
Nogueira, Celia;
Valongo, Carla;
Parenti, Giancarlo;
Amorim, António;
Azevedo, Luisa

Publication type:

Article

Human chitotriosidase polymorphism is associated with human longevity in Mediterranean nonagenarians and centenarians.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 8, doi. 10.1038/jhg.2009.111

By:

Malaguarnera, Lucia;
Ohazuruike, Luca Nnawuihe;
Tsianaka, Christina;
Antic, Tijana;
Di Rosa, Michelino;
Malaguarnera, Mariano

Publication type:

Article

Common genetic variants in pre-microRNAs are associated with risk of coal workers' pneumoconiosis.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 13, doi. 10.1038/jhg.2009.112

By:

Meilin Wang;
Yang Ye;
Qian, Haiyang;
Zhifang Song;
Xiaomin Jia;
Zhengdong Zhang;
Jianwei Zhou;
Chunhui Ni

Publication type:

Article

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 18, doi. 10.1038/jhg.2009.113

By:

Numata, Sanae;
Koda, Yoshiro;
Ihara, Kenji;
Sawada, Tomo;
Okano, Yoshiyuki;
Matsuura, Toshinobu;
Endo, Fumio;
Han-Wook Yoo;
Arranz, Jose A.;
Rubio, Vicente;
Wermuth, Bendicht;
Ah Mew, Nicholas;
Tuchman, Mendel;
Pinner, Jason R.;
Kirk, Edwin P.;
Yoshino, Makoto

Publication type:

Article

Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 4, doi. 10.1038/jhg.2009.109

By:

Arai, Hiroko;
Otagiri, Tesshu;
Sasaki, Ayako;
Umetsu, Kazuo;
Hayasaka, Kiyoshi

Publication type:

Article

Is CFTR 621+3 A>G a cystic fibrosis causing mutation?

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 23, doi. 10.1038/jhg.2009.115

By:

Forzan, Monica;
Salviati, Leonardo;
Pertegato, Vanessa;
Casarin, Alberto;
Bruson, Alice;
Trevisson, Eva;
Di Gianantonio, Elena;
Clementi, Maurizio

Publication type:

Article

Identification of 15 loci influencing height in a Korean population.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 27, doi. 10.1038/jhg.2009.116

By:

Jae-Jung Kim;
Hae-In Lee;
Taesung Park;
Kyunga Kim;
Jong-Eun Lee;
Nam HanCho;
Shin, Chol;
Cho, Yoon Shin;
Jong-Young Lee;
Han, Bok-Ghee;
Han-Wook Yoo;
Jong-Keuk Lee

Publication type:

Article

No influence of FAT polymorphisms in response to aripiprazole.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 32, doi. 10.1038/jhg.2009.117

By:

Chi-Un Pae;
Chiesa, Alberto;
Mandelli, Laura;
De Ronchi, Diana;
Serretti, Alessandro

Publication type:

Article

Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB11501-DQB10602 haplotype.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 63, doi. 10.1038/jhg.2009.118

By:

Miyagawa, Taku;
Honda, Makoto;
Kawashima, Minae;
Shimada, Mihoko;
Tanaka, Susumu;
Honda, Yutaka;
Tokunaga, Katsushi

Publication type:

Article

A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 37, doi. 10.1038/jhg.2009.119

By:

Perera, Sheron;
Ramyar, Lily;
Mitri, Angie;
Pollett, Aaron;
Gallinger, Steven;
Speevak, Marsha D.;
Aronson, Melyssa;
Bapat, Bharati

Publication type:

Article

Mutation of ARHGAP9 in patients with coronary spastic angina.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 42, doi. 10.1038/jhg.2009.120

By:

Takefuji, Mikito;
Asano, Hiroyuki;
Mori, Kazutaka;
Amano, Mutsuki;
Kato, Katsuhiro;
Watanabe, Takashi;
Morita, Yasuhiro;
Katsumi, Akira;
Itoh, Toshiki;
Takenawa, Tadaomi;
Hirashiki, Akihiro;
Izawa, Hideo;
Nagata, Kozo;
Hirayama, Haruo;
Takatsu, Fumimaro;
Naoe, Tomoki;
Yokota, Mitsuhiro;
Kaibuchi, Kozo

Publication type:

Article

Examination of FMR1 transcript and protein levels among 74 premutation carriers.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 66, doi. 10.1038/jhg.2009.121

By:

Peprah, Emmanuel;
Weiya He;
Allen, Emily;
Oliver, Tiffany;
Boyne, Alex;
Sherman, Stephanie L.

Publication type:

Article

Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 50, doi. 10.1038/jhg.2009.122

By:

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

Publication type:

Article

No influence of FAT polymorphisms in response to aripiprazole.

Published in:

2010

By:

Pae, Chi-Un;
Chiesa, Alberto;
Mandelli, Laura;
De Ronchi, Diana;
Serretti, Alessandro

Publication type:

Correction Notice

Looking back, looking forward.

Published in:

2010

By:

Tokunaga, Katsushi

Publication type:

Editorial