Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 3

Results: 10

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 153, doi. 10.1038/jhg.2013.137

By:

Veneziano, Liana;
Mantuano, Elide;
Catalli, Claudio;
Gellera, Cinzia;
Durr, Alexandra;
Romano, Silvia;
Spadaro, Maria;
Frontali, Marina;
Novelletto, Andrea

Publication type:

Article

A commentary on the promise of whole-exome sequencing in medical genetics.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 117, doi. 10.1038/jhg.2014.7

By:

Kaname, Tadashi;
Yanagi, Kumiko;
Naritomi, Kenji

Publication type:

Article

Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 158, doi. 10.1038/jhg.2013.138

By:

Suzuki, Masahiro;
Hirata, Marie;
Takagi, Miho;
Watanabe, Taiichi;
Iguchi, Tomohiro;
Koiwai, Kotaro;
Maezawa, So;
Koiwai, Osamu

Publication type:

Article

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 134, doi. 10.1038/jhg.2013.134

By:

Ji, Yanchun;
Liang, Min;
Zhang, Juanjuan;
Zhang, Minglian;
Zhu, Jinping;
Meng, Xiangjuan;
Zhang, Sai;
Gao, Min;
Zhao, Fuxin;
Wei, Qi-Ping;
Jiang, Pingping;
Tong, Yi;
Liu, Xiaoling;
Qin Mo, Jun;
Guan, Min-Xin

Publication type:

Article

Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 119, doi. 10.1038/jhg.2013.131

By:

Teh, Lai Kuan;
George, Elizabeth;
Lai, Mei I;
Tan, Jin Ai Mary Anne;
Wong, Lily;
Ismail, Patimah

Publication type:

Article

Concurrent MCL1 and JUN amplification in pseudomyxoma peritonei: a comprehensive genetic profiling and survival analysis.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 124, doi. 10.1038/jhg.2013.132

By:

Sio, Terence T;
Mansfield, Aaron S;
Grotz, Travis E;
Graham, Rondell P;
Molina, Julian R;
Que, Florencia G;
Miller, Robert C

Publication type:

Article

Association of miR-146a gene polymorphism with risk of nasopharyngeal carcinoma in the central-southern Chinese population.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 141, doi. 10.1038/jhg.2013.135

By:

Huang, Guo-Liang;
Chen, Mei-Ling;
Li, Ya-Zhen;
Lu, Yan;
Pu, Xing-Xiang;
He, Yu-Xiang;
Tang, Shu-Yin;
Che, Hua;
Zou, Ying;
Ding, Congcong;
He, Zhiwei

Publication type:

Article

Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 129, doi. 10.1038/jhg.2013.133

By:

Nakayama, Takahiro;
Nakamura, Harumasa;
Oya, Yasushi;
Kimura, Takashi;
Imahuku, Ichiro;
Ohno, Kinji;
Nishino, Ichizo;
Abe, Koji;
Matsuura, Tohru

Publication type:

Article

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 145, doi. 10.1038/jhg.2013.136

By:

Liang, Ying;
Huang, Miao-Zeng;
Cheng, Cheng-Yi;
Chao, Hung-Kun;
Fwu, Victor Tramjay;
Chiang, Szu-Hui;
Hsiao, Kwang-Jen;
Niu, Dau-Ming;
Su, Tsung-Sheng

Publication type:

Article

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 163, doi. 10.1038/jhg.2013.139

By:

Ishiura, Hiroyuki;
Takahashi, Yuji;
Hayashi, Toshihiro;
Saito, Kayoko;
Furuya, Hirokazu;
Watanabe, Mitsunori;
Murata, Miho;
Suzuki, Mikiya;
Sugiura, Akira;
Sawai, Setsu;
Shibuya, Kazumoto;
Ueda, Naohisa;
Ichikawa, Yaeko;
Kanazawa, Ichiro;
Goto, Jun;
Tsuji, Shoji

Publication type:

Article