Works matching IS 14345161 AND DT 2011 AND VI 56 AND IP 4

Results: 14

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 277, doi. 10.1038/jhg.2011.2

By:

Fujii, Midori;
Noguchi, Kazuma;
Urade, Masahiro;
Muraki, Yukoh;
Moridera, Kuniyasu;
Kishimoto, Hiromitsu;
Hashimoto-Tamaoki, Tomoko;
Nakano, Yoshiro

Publication type:

Article

Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 306, doi. 10.1038/jhg.2011.10

By:

Okano, Yoshiyuki;
Kudo, Satoshi;
Nishi, Yasuaki;
Sakaguchi, Tomoko;
Aso, Kazuyoshi

Publication type:

Article

Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 296, doi. 10.1038/jhg.2011.7

By:

Miura, Kiyonori;
Higashijima, Ai;
Shimada, Takako;
Miura, Shoko;
Yamasaki, Kentaro;
Abe, Shuhei;
Jo, Ozora;
Kinoshita, Akira;
Yoshida, Atsushi;
Yoshimura, Shuichiro;
Niikawa, Norio;
Yoshiura, Koh-ichiro;
Masuzaki, Hideaki

Publication type:

Article

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 335, doi. 10.1038/jhg.2011.15

By:

Li, Honghao;
Chen, Qi;
Liu, Fuchen;
Zhang, Xuemei;
Liu, Tao;
Li, Wei;
Liu, Shuping;
Zhao, Yuying;
Wen, Bing;
Dai, Tingjun;
Lin, Pengfei;
Gong, Yaoqin;
Yan, Chuanzhu

Publication type:

Article

Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 316, doi. 10.1038/jhg.2011.12

By:

Bhatnagar, Pallav;
Purvis, Shirley;
Barron-Casella, Emily;
DeBaun, Michael R;
Casella, James F;
Arking, Dan E;
Keefer, Jeffrey R

Publication type:

Article

Epidemiology of human papillomavirus genotypes in pregnant Japanese women.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 313, doi. 10.1038/jhg.2011.11

By:

Yamasaki, Kentaro;
Miura, Kiyonori;
Shimada, Takako;
Miura, Shoko;
Abe, Shuhei;
Murakami, Makoto;
Sameshima, Tetsuro;
Fujishita, Akira;
Kotera, Kouhei;
Kinoshita, Akira;
Yoshiura, Koh-ichiro;
Masuzaki, Hideaki

Publication type:

Article

Polymorphisms of the PTGDR and LTC4S influence responsiveness to leukotriene receptor antagonists in Korean children with asthma.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 284, doi. 10.1038/jhg.2011.3

By:

Kang, Mi-Jin;
Kwon, Ji-Won;
Kim, Byoung-Ju;
Yu, Jinho;
Choi, Won-Ah;
Shin, Yee-Jin;
Hong, Soo-Jong

Publication type:

Article

A Commentary on The Soliga, an isolated tribe from Southern India: genetic diversity and phylogenetic affinities.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 257, doi. 10.1038/jhg.2011.8

By:

Saitou, Naruya

Publication type:

Article

MicroRNA-141 confers resistance to cisplatin-induced apoptosis by targeting YAP1 in human esophageal squamous cell carcinoma.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 270, doi. 10.1038/jhg.2011.1

By:

Imanaka, Yukako;
Tsuchiya, Soken;
Sato, Fumiaki;
Shimada, Yutaka;
Shimizu, Kazuharu;
Tsujimoto, Gozoh

Publication type:

Article

Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 324, doi. 10.1038/jhg.2011.13

By:

Ukkola-Vuoti, Liisa;
Oikkonen, Jaana;
Onkamo, Päivi;
Karma, Kai;
Raijas, Pirre;
Järvelä, Irma

Publication type:

Article

Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 330, doi. 10.1038/jhg.2011.14

By:

Sun, Hao;
Satake, Wataru;
Zhang, Changjun;
Nagai, Yoshitaka;
Tian, Youyong;
Fu, Shouzhi;
Yu, Jiankun;
Qian, Yaping;
Qian, Yuan;
Chu, Jiayou;
Toda, Tatsushi

Publication type:

Article

Proposal of pharmacogenetics-based warfarin dosing algorithm in Korean patients.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 290, doi. 10.1038/jhg.2011.4

By:

Choi, Jung Ran;
Kim, Jeong-Oh;
Kang, Dae Ryong;
Yoon, Seong-Ae;
Shin, Jung-Young;
Zhang, XiangHua;
Roh, Mee Ork;
Hong, Hyung Joo;
Wang, Young-Pil;
Jo, Keon-Hyon;
Lee, Kwang-Soo;
Yun, Ho-Jung;
Oh, Yong-Seog;
Yoo, Ki-Dong;
Jeon, Hee-Gyeong;
Lee, Yoon Sook;
Kang, Tae Sun;
Park, Hyun-Joo;
Chung, Myeon Woo;
Kang, Jin-Hyoung

Publication type:

Article

Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 300, doi. 10.1038/jhg.2011.9

By:

Leng, Xuerong;
Wu, Ye;
Wang, Xuemin;
Pan, Yanxia;
Wang, Jingmin;
Li, Jiao;
Du, Li;
Dai, Lifang;
Wu, Xiru;
Proud, Christopher G;
Jiang, Yuwu

Publication type:

Article

The Soliga, an isolated tribe from Southern India: genetic diversity and phylogenetic affinities.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 258, doi. 10.1038/jhg.2010.173

By:

Morlote, Diana M;
Gayden, Tenzin;
Arvind, Prathima;
Babu, Arvind;
Herrera, Rene J

Publication type:

Article