Works matching IS 14345161 AND DT 2012 AND VI 57 AND IP 5

Results: 12

Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 286, doi. 10.1038/jhg.2012.18

By:

Phusantisampan, Theerawut;
Sangkhathat, Surasak;
Phongdara, Amornrat;
Chiengkriwate, Piyawan;
Patrapinyokul, Sakda;
Mahasirimongkol, Surakameth

Publication type:

Article

Investigation of modifier genes within copy number variations in Rett syndrome.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 342, doi. 10.1038/jhg.2012.30

By:

Artuso, Rosangela;
Papa, Filomena T;
Grillo, Elisa;
Mucciolo, Mafalda;
Yasui, Dag H;
Dunaway, Keith W;
Disciglio, Vittoria;
Mencarelli, Maria A;
Pollazzon, Marzia;
Zappella, Michele;
Hayek, Giuseppe;
Mari, Francesca;
Renieri, Alessandra;
LaSalle, Janine M;
Ariani, Francesca

Publication type:

Article

A unique demographic history exists for the MAO-A gene in Polynesians.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 294, doi. 10.1038/jhg.2012.19

By:

Eccles, David A;
Macartney-Coxson, Donia;
Chambers, Geoffrey K;
Lea, Rodney A

Publication type:

Article

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 338, doi. 10.1038/jhg.2012.23

By:

Ono, Shinji;
Yoshiura, Koh-ichiro;
Kinoshita, Akira;
Kikuchi, Taeko;
Nakane, Yoshibumi;
Kato, Nobumasa;
Sadamatsu, Miyuki;
Konishi, Tohru;
Nagamitsu, Shinichiro;
Matsuura, Masato;
Yasuda, Ayako;
Komine, Maki;
Kanai, Kazuaki;
Inoue, Takeshi;
Osamura, Toshio;
Saito, Kayoko;
Hirose, Shinichi;
Koide, Hiroyoshi;
Tomita, Hiroaki;
Ozawa, Hiroki

Publication type:

Article

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 335, doi. 10.1038/jhg.2012.27

By:

Meguro, Toru;
Yoshida, Yuki;
Hayashi, Makiko;
Toyota, Kentaro;
Otagiri, Tesshu;
Mochizuki, Narutaka;
Kishikawa, Yumiko;
Sasaki, Ayako;
Hayasaka, Kiyoshi

Publication type:

Article

Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 283, doi. 10.1038/jhg.2012.29

By:

Singh, Shweta;
Ganesh, Subramaniam

Publication type:

Article

Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 326, doi. 10.1038/jhg.2012.26

By:

Yamaguchi-Kabata, Yumi;
Tsunoda, Tatsuhiko;
Kumasaka, Natsuhiko;
Takahashi, Atsushi;
Hosono, Naoya;
Kubo, Michiaki;
Nakamura, Yusuke;
Kamatani, Naoyuki

Publication type:

Article

Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 305, doi. 10.1038/jhg.2012.21

By:

Hotta, Kikuko;
Kitamoto, Aya;
Kitamoto, Takuya;
Mizusawa, Seiho;
Teranishi, Hajime;
So, Rina;
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

Publication type:

Article

Novel TARDBP mutations in Nordic ALS patients.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 316, doi. 10.1038/jhg.2012.24

By:

Chiang, Huei-Hsin;
Andersen, Peter M;
Tysnes, Ole-Bjørn;
Gredal, Ole;
Christensen, Peter B;
Graff, Caroline

Publication type:

Article

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 311, doi. 10.1038/jhg.2012.22

By:

Fortugno, Paola;
Grosso, Fabiana;
Zambruno, Giovanna;
Pastore, Serena;
Faletra, Flavio;
Castiglia, Daniele

Publication type:

Article

A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 301, doi. 10.1038/jhg.2012.20

By:

Jongjaroenprasert, Wallaya;
Phusantisampan, Theerawut;
Mahasirimongkol, Surakameth;
Mushiroda, Taisei;
Hirankarn, Nattiya;
Snabboon, Thiti;
Chanprasertyotin, Suwannee;
Tantiwong, Puntip;
Soonthornpun, Supamai;
Rattanapichart, Paninee;
Mamanasiri, Sunee;
Himathongkam, Thep;
Ongphiphadhanakul, Boonsong;
Takahashi, Atsushi;
Kamatani, Naoyuki;
Kubo, Michiaki;
Nakamura, Yusuke

Publication type:

Article

Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case-control study in Han Chinese.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 320, doi. 10.1038/jhg.2012.25

By:

Lu, Feng;
Qian, Yun;
Li, Huizhang;
Dong, Meihua;
Lin, Yudi;
Du, Jiangbo;
Lin, Yuan;
Chen, Jian;
Shen, Chong;
Jin, Guangfu;
Dai, Juncheng;
Hu, Zhibin;
Shen, Hongbing

Publication type:

Article