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