Works matching IS 14345161 AND DT 2011 AND VI 56 AND IP 5

Results: 13

Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 364, doi. 10.1038/jhg.2011.20

By:

Abe, Akiko;
Numakura, Chikahiko;
Kijima, Kazuki;
Hayashi, Makiko;
Hashimoto, Taeko;
Hayasaka, Kiyoshi

Publication type:

Article

A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 398, doi. 10.1038/jhg.2011.28

By:

Dai, Jin;
Kim, Ok-Hwa;
Cho, Tae-Joon;
Miyake, Noriko;
Song, Hae-Ryong;
Karasugi, Tatsuki;
Sakazume, Satoru;
Ikema, Masahide;
Matsui, Yoshito;
Nagai, Toshiro;
Matsumoto, Naomichi;
Ohashi, Hirofumi;
Kamatani, Naoyuki;
Nishimura, Gen;
Furuichi, Tatsuya;
Takahashi, Atsushi;
Ikegawa, Shiro

Publication type:

Article

A Commentary on Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 341, doi. 10.1038/jhg.2011.32

By:

Nakagawa, Masanori

Publication type:

Article

Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 352, doi. 10.1038/jhg.2011.18

By:

Jelani, Musharraf;
Chishti, Muhammad Salman;
Ahmad, Wasim

Publication type:

Article

Composite likelihood-based meta-analysis of breast cancer association studies.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 377, doi. 10.1038/jhg.2011.23

By:

Politopoulos, Ioannis;
Gibson, Jane;
Tapper, William;
Ennis, Sarah;
Eccles, Diana;
Collins, Andrew

Publication type:

Article

Unexpected functional similarities between gatekeeper tumour suppressor genes and proto-oncogenes revealed by systems biology.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 369, doi. 10.1038/jhg.2011.21

By:

Zhao, Yongzhong;
Epstein, Richard J

Publication type:

Article

A Commentary on microRNA-141 confers resistance to cisplatin-induced apoptosis by targeting YAP1 in human esophageal squamous cell carcinoma.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 339, doi. 10.1038/jhg.2011.26

By:

Seki, Naohiko

Publication type:

Article

PLA2G6 variant in Parkinson's disease.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 401, doi. 10.1038/jhg.2011.22

By:

Tomiyama, Hiroyuki;
Yoshino, Hiroyo;
Ogaki, Kotaro;
Li, Lin;
Yamashita, Chikara;
Li, Yuanzhe;
Funayama, Manabu;
Sasaki, Ryogen;
Kokubo, Yasumasa;
Kuzuhara, Shigeki;
Hattori, Nobutaka

Publication type:

Article

For what am I participating? The need for communication after receiving consent from biobanking project participants: experience in Japan.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 358, doi. 10.1038/jhg.2011.19

By:

Watanabe, Maiko;
Inoue, Yusuke;
Chang, Chiungfang;
Hong, Hyunsoo;
Kobayashi, Izumi;
Suzuki, Satoshi;
Muto, Kaori

Publication type:

Article

Exploration of the disease locus by a careful evaluation of the likelihood polynomial for pedigree data.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 383, doi. 10.1038/jhg.2011.24

By:

Sugaya, Yuki;
Shibata, Ritei

Publication type:

Article

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 348, doi. 10.1038/jhg.2011.17

By:

Zhang, Xufeng;
Chen, Yougen;
Zhao, Shentiang;
Markljung, Ellen;
Nordenskjöld, Agneta

Publication type:

Article

Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 390, doi. 10.1038/jhg.2011.25

By:

Renault, Nisa KE;
Renault, Marc P;
Copeland, Emily;
Howell, Robin E;
Greer, Wenda L

Publication type:

Article

De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 343, doi. 10.1038/jhg.2011.16

By:

Tadaki, Hiromi;
Saitsu, Hirotomo;
Nishimura-Tadaki, Akira;
Imagawa, Tomoyuki;
Kikuchi, Masako;
Hara, Ryoki;
Kaneko, Utako;
Kishi, Takayuki;
Miyamae, Takako;
Miyake, Noriko;
Doi, Hiroshi;
Tsurusaki, Yoshinori;
Sakai, Haruya;
Yokota, Shumpei;
Matsumoto, Naomichi

Publication type:

Article