Works matching IS 14345161 AND DT 2004 AND VI 49 AND IP 6

Results: 9

Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 6, p. 334, doi. 10.1007/s10038-004-0153-4

By:

Okamoto, Nobuhiko;
Del Maestro, Rolando;
Valero, Rebeca;
Monros, Eugenia;
Poo, Pilar;
Kanemura, Yonehiro;
Yamasaki, Mami

Publication type:

Article

Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France).

Published in:

Journal of Human Genetics, 2004, v. 49, n. 6, p. 285, doi. 10.1007/s10038-004-0147-2

By:

De Braekeleer, Marc;
Rault, Gilles;
Bellis, Gil

Publication type:

Article

Up-regulation of transcriptional factor E2F1 in papillary and anaplastic thyroid cancers.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 6, p. 312, doi. 10.1007/s10038-004-0146-3

By:

Onda, Masamitsu;
Nagai, Hisaki;
Yoshida, Akira;
Miyamoto, Shizuyo;
Asaka, Shin-ichi;
Akaishi, Junko;
Takatsu, Keisuke;
Nagahama, Mitsuji;
Ito, Kouichi;
Shimizu, Kazuo;
Emi, Mitsuru

Publication type:

Article

Amplification, up-regulation and over-expression of C3G (CRK SH3 domain-binding guanine nucleotide-releasing factor) in non-small cell lung cancers.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 6, p. 290, doi. 10.1007/s10038-004-0148-1

By:

Hirata, Tomomi;
Nagai, Hisaki;
Koizumi, Kiyoshi;
Okino, Keiko;
Harada, Akima;
Onda, Masamitsu;
Nagahata, Takemitsu;
Mikami, Iwao;
Hirai, Kyoji;
Haraguchi, Syuji;
Jin, Enjing;
Kawanami, Oichi;
Shimizu, Kazuo;
Emi, Mitsuru

Publication type:

Article

Polymorphisms of the prion protein gene (PRNP) in a Korean population.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 6, p. 319, doi. 10.1007/s10038-004-0150-7

By:

Jeong, Byung-Hoon;
Nam, Jae-Hwan;
Lee, Yun-Jung;
Lee, Kyung-Hee;
Jang, Myoung-Kuk;
Carp, Richard I.;
Lee, Ho-Dong;
Ju, Young-Ran;
Ahn Jo, Sangmee;
Park, Keun-Yong;
Kim, Yong-Sun

Publication type:

Article

Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 6, p. 302, doi. 10.1007/s10038-004-0151-6

By:

Ishihara, Mitsuaki;
Iwasaki, Tadao;
Nagano, Makoto;
Ishii, Jun;
Takano, Mayumi;
Kujiraoka, Takeshi;
Tsuji, Masahiro;
Hattori, Hiroaki;
Emi, Mitsuru

Publication type:

Article

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 6, p. 308, doi. 10.1007/s10038-004-0145-4

By:

Bhalla, Kavita;
Phillips, Hilary A.;
Crawford, Joanna;
McKenzie, Olivia L. D.;
Mulley, John C.;
Eyre, Helen;
Gardner, Alison E.;
Kremmidiotis, Gabriel;
Callen, David F.

Publication type:

Article

D919G polymorphism of methionine synthase gene is associated with blood pressure response to benazepril in Chinese hypertensive patients.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 6, p. 296, doi. 10.1007/s10038-004-0149-0

By:

Zhang, Yan;
Zhang, Minmin;
Niu, Tianhua;
Xu, Xin;
Zhu, Guoying;
Huo, Yong;
Chen, Changzhong;
Wang, Xiaobin;
Xing, Houxun;
Peng, Shaojie;
Huang, Aiqun;
Hong, Xiumei;
Xu, Xiping

Publication type:

Article

Heterozygosities and allelic frequencies of 811 dinucleotide-repeat marker loci in the Taiwanese population.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 6, p. 325, doi. 10.1007/s10038-004-0152-5

By:

Cheng-Hsin Lu;
Cherry Guan-Ju Lin;
Lichih Huang;
Ling-Mei Wang;
Lawrence Shih-Hsin Wu

Publication type:

Article