Works matching IS 14345161 AND DT 2008 AND VI 53 AND IP 5

Results: 13

Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 401, doi. 10.1007/s10038-008-0274-2

By:

Vilchis, Felipe;
Valdez, Evangelina;
Ramos, Luis;
García, Rocio;
Gómez, Rita;
Chávez, Bertha

Publication type:

Article

Association of chemokine CCL5 and systemic malignancies.

Published in:

2008

By:

Kapoor, Shailendra

Publication type:

Letter

Sample-size properties of a case-control association analysis of multistage SNP studies for identifying disease susceptibility genes.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 390, doi. 10.1007/s10038-008-0258-2

By:

Kitamura, Nobutaka;
Akazawa, Kouhei;
Toyabe, Shin-ichi;
Miyashita, Akinori;
Kuwano, Ryozo;
Nakamura, Junichiro

Publication type:

Article

Prediction of functional nonsynonymous single nucleotide polymorphisms in human G-protein-coupled receptors.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 379, doi. 10.1007/s10038-008-0260-8

By:

Dan Xue;
Jingyuan Yin;
Mingfeng Tan;
Junjie Yue;
Yuelan Wang;
Long Liang

Publication type:

Article

Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 419, doi. 10.1007/s10038-008-0265-3

By:

Furuichi, Tatsuya;
Maeda, Koichi;
Chung-Tei Chou;
Yu-Fen Liu;
Ting-Chun Liu;
Miyamoto, Yoshinari;
Takahashi, Atsushi;
Mori, Kanji;
Ikari, Katsunori;
Kamatani, Naoyuki;
Kurosawa, Hisashi;
Inoue, Hisashi;
Tsai, Shih-Feng;
Ikegawa, Shiro

Publication type:

Article

Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase ( PAH) gene.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 407, doi. 10.1007/s10038-008-0264-4

By:

Bercovich, Dani;
Elimelech, Arava;
Zlotogora, Joel;
Korem, Sigal;
Yardeni, Tal;
Gal, Nurit;
Goldstein, Nurit;
Vilensky, Bela;
Segev, Roni;
Avraham, Smadar;
Loewenthal, Ron;
Schwartz, Gerard;
Anikster, Yair

Publication type:

Article

A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 475, doi. 10.1007/s10038-008-0257-3

By:

Zheng Liu;
Yuanming Sun;
Qingming Dong;
Mingliang He;
Christopher Cheng;
Feiyue Fan

Publication type:

Article

Statistical analysis of the associations between polymorphisms within aldehyde dehydrogenase 2 ( ALDH2), and quantitative and qualitative traits extracted from a large-scale database of Japanese single-nucleotide polymorphisms (SNPs).

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 425, doi. 10.1007/s10038-008-0266-2

By:

Nose, Junichiro;
Saito, Akira;
Kamatani, Naoyuki

Publication type:

Article

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 454, doi. 10.1007/s10038-008-0269-z

By:

Fukami, Maki;
Dateki, Sumito;
Kato, Fumiko;
Hasegawa, Yukihiro;
Mochizuki, Hiroshi;
Horikawa, Reiko;
Ogata, Tsutomu

Publication type:

Article

Introduction of a CD40L genomic fragment via a human artificial chromosome vector permits cell-type-specific gene expression and induces immunoglobulin secretion.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 447, doi. 10.1007/s10038-008-0268-0

By:

Yamada, Hidetoshi;
Li, Yanze C.;
Nishikawa, Mitsuo;
Oshimura, Mitsuo;
Inoue, Toshiaki

Publication type:

Article

Myeloperoxidase gene sequence variations are associated with low-density-lipoprotein characteristics.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 439, doi. 10.1007/s10038-008-0267-1

By:

Dolley, Guillaume;
Lamarche, Benoit;
Despr&és, Jean-Pierre;
Bouchard, Claude;
Pérusse, Louis;
Vohl, Marie-Claude

Publication type:

Article

Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 460, doi. 10.1007/s10038-008-0271-5

By:

Estalella, Itziar;
Garcia-Gimeno, Maria;
Marina, Alberto;
Castaño, Luis;
Sanz, Pascual

Publication type:

Article

Structural study on mutant α- l-iduronidases: insight into mucopolysaccharidosis type I.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 467, doi. 10.1007/s10038-008-0272-4

By:

Sugawara, Kanako;
Saito, Seiji;
Ohno, Kazuki;
Okuyama, Torayuki;
Sakuraba, Hitoshi

Publication type:

Article