Works matching IS 14345161 AND DT 2012 AND VI 57 AND IP 6

Results: 15

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 401, doi. 10.1038/jhg.2012.59

By:

Yamashita, Yoshihiro;
Matsuura, Tohru;
Shinmi, Jun;
Amakusa, Yoshinobu;
Masuda, Akio;
Ito, Mikako;
Kinoshita, Masanobu;
Furuya, Hirokazu;
Abe, Koji;
Ibi, Tohru;
Sahashi, Ko;
Ohno, Kinji

Publication type:

Article

Genetic architecture for susceptibility to gout in the KARE cohort study.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 379, doi. 10.1038/jhg.2012.39

By:

Shin, Jimin;
Kim, Younyoung;
Kong, Minyoung;
Lee, Chaeyoung

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. 6, p. 399, doi. 10.1038/jhg.2012.50

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

Genome-wide association studies of tuberculosis in Asians identify distinct at-risk locus for young tuberculosis.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 363, doi. 10.1038/jhg.2012.35

By:

Mahasirimongkol, Surakameth;
Yanai, Hideki;
Mushiroda, Taisei;
Promphittayarat, Watoo;
Wattanapokayakit, Sukanya;
Phromjai, Jurairat;
Yuliwulandari, Rika;
Wichukchinda, Nuanjun;
Yowang, Amara;
Yamada, Norio;
Kantipong, Patcharee;
Takahashi, Atsushi;
Kubo, Michiaki;
Sawanpanyalert, Pathom;
Kamatani, Naoyuki;
Nakamura, Yusuke;
Tokunaga, Katsushi

Publication type:

Article

New mutations in the GLA gene in Brazilian families with Fabry disease.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 347, doi. 10.1038/jhg.2012.32

By:

Turaça, Lauro Thiago;
Pessoa, Juliana Gilbert;
Motta, Fabiana Louise;
Muñoz Rojas, Maria Verônica;
Müller, Karen Barbosa;
Lourenço, Charles Marques;
Junior Marques, Wilson;
D'Almeida, Vania;
Martins, Ana Maria;
Pesquero, João Bosco

Publication type:

Article

Climatic influence on the reproductive characteristics of Japanese males.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 375, doi. 10.1038/jhg.2012.38

By:

Nakahori, Yutaka;
Sato, Youichi;
Ewis, Ashraf A;
Iwamoto, Teruaki;
Shinka, Toshikatsu;
Nozawa, Shiari;
Yoshiike, Miki;
Yang, Xin-Jun;
Sei, Masako;
Namiki, Mikio;
Kou, Eitetsu;
Ito, Naoki;
Komatsu, Kiyoshi;
Matsumiya, Kiyomi;
Nakagome, Yasuo

Publication type:

Article

A Commentary on The importance of knowing from whence your PHOX2B mutation comes.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 345, doi. 10.1038/jhg.2012.44

By:

Rand, Casey M;
Weese-Mayer, Debra E

Publication type:

Article

Recapitulation of genome-wide association studies on pulse pressure and mean arterial pressure in the Korean population.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 391, doi. 10.1038/jhg.2012.31

By:

Hong, Kyung-Won;
Min, Haesook;
Heo, Byeong-Mun;
Eun Joo, Seong;
Soo Kim, Sung;
Kim, Yeonjung

Publication type:

Article

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 368, doi. 10.1038/jhg.2012.37

By:

Yamashita, Yoshihiro;
Matsuura, Tohru;
Shinmi, Jun;
Amakusa, Yoshinobu;
Masuda, Akio;
Ito, Mikako;
Kinoshita, Masanobu;
Furuya, Hirokazu;
Abe, Koji;
Ibi, Tohru;
Sahashi, Koo;
Ohno, Kinji

Publication type:

Article

Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 358, doi. 10.1038/jhg.2012.34

By:

Alex, Livy;
Chahil, Jagdish Kaur;
Lye, Say Hean;
Bagali, Pramod;
Ler, Lian Wee

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. 6, p. 398, doi. 10.1038/jhg.2012.42

By:

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

Publication type:

Article

Regions of homozygosity in three Southeast Asian populations.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 400, doi. 10.1038/jhg.2012.51

By:

Teo, Shu-Mei;
Ku, Chee-Seng;
Salim, Agus;
Naidoo, Nasheen;
Chia, Kee-Seng;
Pawitan, Yudi

Publication type:

Article

Lactase persistence may have an independent origin in Tibetan populations from Tibet, China.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 394, doi. 10.1038/jhg.2012.41

By:

Peng, Min-Sheng;
He, Jun-Dong;
Zhu, Chun-Ling;
Wu, Shi-Fang;
Jin, Jie-Qiong;
Zhang, Ya-Ping

Publication type:

Article

Association between dopamine beta hydroxylase rs5320 polymorphism and smoking behaviour in elderly Japanese.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 385, doi. 10.1038/jhg.2012.40

By:

Ella, Elakeche;
Sato, Naomi;
Nishizawa, Daisuke;
Kageyama, Shinji;
Yamada, Hidetaka;
Kurabe, Nobuya;
Ishino, Keiko;
Tao, Hong;
Tanioka, Fumihiko;
Nozawa, Akiko;
Renyin, Chen;
Shinmura, Kazuya;
Ikeda, Kazutaka;
Sugimura, Haruhiko

Publication type:

Article

Evaluating rare variants under two-stage design.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 352, doi. 10.1038/jhg.2012.33

By:

Li, Qizhai;
Pan, Dongdong;
Yue, Weihua;
Gao, Ying;
Yu, Kai

Publication type:

Article