Works in Journal of Human Genetics, 2004, Vol 49, Issue 6

Results: 9

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
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
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