Works matching IS 14345161 AND DT 2007 AND VI 52 AND IP 10

Results: 9

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 10, p. 865, doi. 10.1007/s10038-007-0180-z

By:

Didona, Biagio;
Codispoti, Andrea;
Bertini, Enrico;
Rizzo, Wiliam;
Carney, Gael;
Zambruno, Giovanna;
Dionisi-Vici, Carlo;
Paradisi, Mauro;
Pedicelli, Cristina;
Melino, Gerry;
Terrinoni, Alessandro

Publication type:

Article

Genetic variations and haplotype structures of the DPYD gene encoding dihydropyrimidine dehydrogenase in Japanese and their ethnic differences.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 10, p. 804, doi. 10.1007/s10038-007-0186-6

By:

Maekawa, Keiko;
Saeki, Mayumi;
Saito, Yoshiro;
Ozawa, Shogo;
Kurose, Kouichi;
Kaniwa, Nahoko;
Kawamoto, Manabu;
Kamatani, Naoyuki;
Kato, Ken;
Hamaguchi, Tetsuya;
Yamada, Yasuhide;
Shirao, Kuniaki;
Shimada, Yasuhiro;
Muto, Manabu;
Doi, Toshihiko;
Ohtsu, Atsushi;
Yoshida, Teruhiko;
Matsumura, Yasuhiro;
Saijo, Nagahiro;
Sawada, Jun-ichi

Publication type:

Article

Association analysis of HSP90B1 with bipolar disorder.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 10, p. 794, doi. 10.1007/s10038-007-0188-4

By:

Kakiuchi, Chihiro;
Ishiwata, Mizuho;
Nanko, Shinichiro;
Kunugi, Hiroshi;
Minabe, Yoshio;
Nakamura, Kazuhiko;
Mori, Norio;
Fujii, Kumiko;
Umekage, Tadashi;
Tochigi, Mamoru;
Kohda, Kazuhisa;
Sasaki, Tsukasa;
Yamada, Kazuo;
Yoshikawa, Takeo;
Kato, Tadafumi

Publication type:

Article

Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 10, p. 836, doi. 10.1007/s10038-007-0185-7

By:

Medica, Igor;
Kastrin, Andrej;
Maver, Ales;
Peterlin, Borut

Publication type:

Article

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 10, p. 820, doi. 10.1007/s10038-007-0187-5

By:

Olivieri, Carla;
Pagella, Fabio;
Semino, Lucia;
Lanzarini, Luca;
Valacca, Cristina;
Pilotto, Andrea;
Corno, Sabrina;
Scappaticci, Susi;
Manfredi, Guido;
Buscarini, Elisabetta;
Danesino, Cesare

Publication type:

Article

High-resolution SNP and haplotype maps of the human gamma-glutamyl carboxylase gene ( GGCX) and association study between polymorphisms in GGCX and the warfarin maintenance dose requirement of the Japanese population.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 10, p. 856, doi. 10.1007/s10038-007-0183-9

By:

Pei-Chieng Cha;
Mushiroda, Taisei;
Takahashi, Atsushi;
Saito, Shigeru;
Shimomura, Hideki;
Suzuki, Takao;
Kamatani, Naoyuki;
Nakamura, Yusuke

Publication type:

Article

Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 10, p. 848, doi. 10.1007/s10038-007-0182-x

By:

Basri, Rehana;
Yabe, Ichiro;
Soma, Hiroyuki;
Sasaki, Hidenao

Publication type:

Article

SNPs in the KCNJ11- ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 10, p. 781, doi. 10.1007/s10038-007-0190-x

By:

Sakamoto, Yukiko;
Inoue, Hiroshi;
Keshavarz, Parvaneh;
Miyawaki, Katsuyuki;
Yamaguchi, Yuka;
Moritani, Maki;
Kunika, Kiyoshi;
Nakamura, Naoto;
Yoshikawa, Toshikazu;
Yasui, Natsuo;
Shiota, Hiroshi;
Tanahashi, Toshihito;
Itakura, Mitsuo

Publication type:

Article

Danon disease presenting with dilated cardiomyopathy and a complex phenotype.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 10, p. 830, doi. 10.1007/s10038-007-0184-8

By:

Taylor, Matthew R. G.;
Lisa Ku;
Slavov, Dobromir;
Cavanaugh, Jean;
Boucek, Mark;
Xiao Zhu;
Graw, Sharon;
Carniel, Elisa;
Barnes, Carl;
Quan, Dianna;
Prall, Ryan;
Lovell, Mark A.;
Mierau, Gary;
Ruegg, Patsy;
Mandava, Naresh;
Bristow, Michael R.;
Towbin, Jeffrey A.;
Mestroni, Luisa

Publication type:

Article