Works matching IS 14345161 AND DT 2012 AND VI 57 AND IP 1

Results: 16

New Year's Greetings.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 1, doi. 10.1038/jhg.2011.141

By:

Tokunaga, Katsushi

Publication type:

Article

Tumor suppressive microRNA-133a regulates novel molecular networks in lung squamous cell carcinoma.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 38, doi. 10.1038/jhg.2011.126

By:

Moriya, Yasumitsu;
Nohata, Nijiro;
Kinoshita, Takashi;
Mutallip, Muradil;
Okamoto, Tatsuro;
Yoshida, Shigetoshi;
Suzuki, Makoto;
Yoshino, Ichiro;
Seki, Naohiko

Publication type:

Article

A multiplex SNP assay for the dissection of human Y-chromosome haplogroup O representing the major paternal lineage in East and Southeast Asia.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 65, doi. 10.1038/jhg.2011.120

By:

van Oven, Mannis;
van den Tempel, Nathalie;
Kayser, Manfred

Publication type:

Article

A commentary on A multiplex SNP assay for the dissection of human Y-chromosome haplogroup O representing the major paternal lineage in East and Southeast Asia.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 5, doi. 10.1038/jhg.2011.136

By:

Shi, Hong

Publication type:

Article

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128

By:

Pagnamenta, Alistair T;
Lise, Stefano;
Harrison, Victoria;
Stewart, Helen;
Jayawant, Sandeep;
Quaghebeur, Gerardine;
Deng, Alexander T;
Murphy, Valerie Elizabeth;
Akha, Elham Sadighi;
Rimmer, Andy;
Mathieson, Iain;
Knight, Samantha JL;
Kini, Usha;
Taylor, Jenny C;
Keays, David A

Publication type:

Article

Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 18, doi. 10.1038/jhg.2011.123

By:

Bekris, Lynn M;
Lutz, Franziska;
Yu, Chang-En

Publication type:

Article

Functional single-nucleotide polymorphism of epidermal growth factor is associated with the development of Barrett's esophagus and esophageal adenocarcinoma.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 26, doi. 10.1038/jhg.2011.124

By:

Menke, Vivianda;
Pot, Raymond GJ;
Moons, Leon MG;
van Zoest, Katinka PM;
Hansen, Bettina;
van Dekken, Herman;
Siersema, Peter D;
Kusters, Johannes G;
Kuipers, Ernst J

Publication type:

Article

Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 57, doi. 10.1038/jhg.2011.133

By:

Langberg, Kurt A;
Ma, Lijun;
Sharma, Neeraj K;
Hanis, Craig L;
Elbein, Steven C;
Hasstedt, Sandra J;
Das, Swapan K

Publication type:

Article

Implications of gene copy-number variation in health and diseases.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 6, doi. 10.1038/jhg.2011.108

By:

Almal, Suhani H;
Padh, Harish

Publication type:

Article

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 52, doi. 10.1038/jhg.2011.130

By:

Yang, Jeong Hoon;
Ki, Chang-Seok;
Han, Hyejin;
Song, Bong Gun;
Jang, Shin Yi;
Chung, Tae-Young;
Sung, Kiick;
Lee, Heung Jae;
Kim, Duk-Kyung

Publication type:

Article

Genome-wide association study of copy number variation identified gremlin1 as a candidate gene for lean body mass.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 33, doi. 10.1038/jhg.2011.125

By:

Hai, Rong;
Pei, Yu-Fang;
Shen, Hui;
Zhang, Lei;
Liu, Xiao-Gang;
Lin, Yong;
Ran, Shu;
Pan, Feng;
Tan, Li-Jun;
Lei, Shu-Feng;
Yang, Tie-Lin;
Zhang, Yan;
Zhu, Xue-Zhen;
Zhao, Lan-Juan;
Deng, Hong-Wen

Publication type:

Article

A Family-based Association Study of DIO2 and children mental retardation in the Qinba region of China.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 14, doi. 10.1038/jhg.2011.121

By:

Zhang, Kejin;
Xi, Heng;
Wang, Xiying;
Guo, Yale;
Huang, Shaoping;
Zheng, Zijian;
Zhang, Fuchang;
Gao, Xiaocai

Publication type:

Article

Commentary on Functional analysis of APOE Locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 3, doi. 10.1038/jhg.2011.135

By:

Carrasquillo, Minerva M;
Morgan, Kevin

Publication type:

Article

Genetic variations in the CYP17A1 and NT5C2 genes are associated with a reduction in visceral and subcutaneous fat areas in Japanese women.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 46, doi. 10.1038/jhg.2011.127

By:

Hotta, Kikuko;
Kitamoto, Aya;
Kitamoto, Takuya;
Mizusawa, Seiho;
Teranishi, Hajime;
Matsuo, Tomoaki;
Nakata, Yoshio;
Hyogo, Hideyuki;
Ochi, Hidenori;
Nakamura, Takahiro;
Kamohara, Seika;
Miyatake, Nobuyuki;
Kotani, Kazuaki;
Komatsu, Ryoya;
Itoh, Naoto;
Mineo, Ikuo;
Wada, Jun;
Yoneda, Masato;
Nakajima, Atsushi;
Funahashi, Tohru

Publication type:

Article

Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 62, doi. 10.1038/jhg.2011.116

By:

Jung, Chang-Woo;
Lee, Beom Hee;
Kim, Joo Hyun;
Kim, Gu-Hwan;
Lee, Jin;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 73, doi. 10.1038/jhg.2011.131

By:

Honda, Shozo;
Satomura, Shigeko;
Hayashi, Shin;
Imoto, Issei;
Nakagawa, Eiji;
Goto, Yu-ichi;
Inazawa, Johji

Publication type:

Article