Works matching IS 14345161 AND DT 2013 AND VI 58 AND IP 2

Results: 12

OPRM1 genetic polymorphisms are associated with the plasma nicotine metabolite cotinine concentration in methadone maintenance patients: a cross sectional study.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 84, doi. 10.1038/jhg.2012.139
By:
- Chen, Yu-Ting;
- Tsou, Hsiao-Hui;
- Kuo, Hsiang-Wei;
- Fang, Chiu-Ping;
- Wang, Sheng-Chang;
- Ho, Ing-Kang;
- Chang, Yao-Sheng;
- Chen, Chia-Hui;
- Hsiao, Chin-Fu;
- Wu, Hsiao-Yu;
- Lin, Keh-Ming;
- Chen, Andrew CH;
- Tsai-Wu, Jyy-Jih;
- Liu, Yu-Li
Publication type:
Article
Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 78, doi. 10.1038/jhg.2012.137
By:
- Peixoto, Ana;
- Pinheiro, Manuela;
- Massena, Lígia;
- Santos, Catarina;
- Pinto, Pedro;
- Rocha, Patrícia;
- Pinto, Carla;
- Teixeira, Manuel R
Publication type:
Article
Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 59, doi. 10.1038/jhg.2012.127
By:
- Plourde, Karine V;
- Labrie, Yvan;
- Desjardins, Sylvie;
- Belleau, Pascal;
- Ouellette, Geneviève;
- Durocher, Francine
Publication type:
Article
A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 57, doi. 10.1038/jhg.2012.138
By:
- Kaname, Tadashi;
- Yanagi, Kumiko;
- Naritomi, Kenji
Publication type:
Article
Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 73, doi. 10.1038/jhg.2012.135
By:
- Bae Sohn, Young;
- Gon Lee, Cha;
- Min Ko, Jung;
- Yang, Jung-Ah;
- Yun, Jun-No;
- Jung, Eun-Jung;
- Jin, Hyun-Seok;
- Park, Sang-Jin;
- Yong Jeong, Seon
Publication type:
Article
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 102, doi. 10.1038/jhg.2012.143
By:
- Bashir, Zil-e-Huma;
- Latief, Noreen;
- Belyantseva, Inna A;
- Iqbal, Farheena;
- Amer Riazuddin, Sheikh;
- Khan, Shaheen N;
- Friedman, Thomas B;
- Riazuddin, Sheikh;
- Riazuddin, Saima
Publication type:
Article
Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 98, doi. 10.1038/jhg.2012.141
By:
- Ali Mosrati, Mohamed;
- Schrauwen, Isabelle;
- Ben Saiid, Mariem;
- Aifa-Hmani, Mounira;
- Fransen, Erik;
- Mneja, Malek;
- Ghorbel, Abdelmonem;
- Van Camp, Guy;
- Masmoudi, Saber
Publication type:
Article
Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 109, doi. 10.1038/jhg.2012.145
By:
- Zhou, Heying;
- Mori, Seijiro;
- Kou, Ikuyo;
- Fuku, Noriyuki;
- Naka Mieno, Makiko;
- Honma, Naoko;
- Arai, Tomio;
- Sawabe, Motoji;
- Tanaka, Masashi;
- Ikegawa, Shiro;
- Ito, Hideki
Publication type:
Article
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 67, doi. 10.1038/jhg.2012.134
By:
- Li, Kui;
- Zhang, Wei-Min;
- Lin, Sheng;
- Wen, Lu;
- Wang, Zi-Feng;
- Xie, Dan;
- Wei, Min;
- Qiu, Zheng-Qing;
- Dai, Yi;
- Lin, Marie C M;
- Kung, Hsiang-Fu;
- Yao, Feng-Xia
Publication type:
Article
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 113, doi. 10.1038/jhg.2012.117
By:
- Tsurusaki, Yoshinori;
- Kobayashi, Yasuko;
- Hisano, Masataka;
- Ito, Shuichi;
- Doi, Hiroshi;
- Nakashima, Mitsuko;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi;
- Miyake, Noriko
Publication type:
Article
Comprehensive DNA methylation analysis of peripheral blood cells derived from patients with first-episode schizophrenia.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 91, doi. 10.1038/jhg.2012.140
By:
- Nishioka, Masaki;
- Bundo, Miki;
- Koike, Shinsuke;
- Takizawa, Ryu;
- Kakiuchi, Chihiro;
- Araki, Tsuyoshi;
- Kasai, Kiyoto;
- Iwamoto, Kazuya
Publication type:
Article
A Commentary on Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 58, doi. 10.1038/jhg.2012.142
By:
- Kiyotani, Kazuma;
- Katagiri, Toyomasa
Publication type:
Article