Works matching IS 14345161 AND DT 2004 AND VI 49 AND IP 1

Results: 10

CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 1, p. 61

By:

Cao, Henian;
Williams, Christina;
Carter, Monica;
Hegele, Robert A.

Publication type:

Article

Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 1, p. 16, doi. 10.1007/s10038-003-0100-9

By:

Han, Wei;
Yip, Shea Ping;
Wang, Jing;
Yap, Maurice K. H.

Publication type:

Article

Hypercholesterolemia associated with splice-junction variation of inter-α-trypsin inhibitor heavy chain 4 (ITIH4) gene.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 1, p. 24

By:

Fujita, Yuko;
Ezura, Yoichi;
Emi, Mitsuru;
Sato, Keiko;
Takada, Daisuke;
Iino, Yasuhiko;
Katayama, Yasuo;
Takahashi, Kaneo;
Kamimura, Kouhei;
Bujo, Hideaki;
Saito, Yasushi

Publication type:

Article

Genomewide linkage analysis of familial prostate cancer in the Japanese population.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 1, p. 9

By:

Matsui, Hirosi;
Suzuki, Kazuhiro;
Ohtake, Nobuaki;
Nakata, Seiji;
Takeuchi, Toshiyuki;
Yamanaka, Hidetoshi;
Inoue, Ituro

Publication type:

Article

Common single nucleotide polymorphisms of the MDR1 gene have no influence on its mRNA expression level of normal kidney cortex and renal cell carcinoma in Japanese nephrectomized patients.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 1, p. 40, doi. 10.1007/s10038-003-0105-4

By:

Uwai, Yuichi;
Masuda, Satohiro;
Goto, Maki;
Motohashi, Hideyuki;
Saito, Hideyuki;
Okuda, Masahiro;
Nakamura, Eijirou;
Ito, Noriyuki;
Ogawa, Osamu;
Inui, Ken-ichi

Publication type:

Article

Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5’ UTR end of ClC-5 mRNA in human renal tissue and leukocytes.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 1, p. 53, doi. 10.1007/s10038-003-0108-1

By:

Forino, Monica;
Graziotto, Romina;
Tosetto, Enrica;
Gambaro, Giovanni;
D'Agelo, Angela;
Anglani, Franca

Publication type:

Article

Deregulated expression of KRAP, a novel gene encoding actin-interacting protein, in human colon cancer cells.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 1, p. 46, doi. 10.1007/s10038-003-0106-3

By:

Inokuchi, Junichi;
Komiya, Misako;
Baba, Iwai;
Naito, Seiji;
Sasazuki, Takehiko;
Shierasawa, Senji

Publication type:

Article

Structural and immunocytochemical studies on α-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).

Published in:

Journal of Human Genetics, 2004, v. 49, n. 1, p. 1, doi. 10.1007/s10038-003-0098-z

By:

Sakuraba, Hitoshi;
Matsuzawa, Fumiko;
Aikawa, Sei-ichi;
Doi, Hirofumi;
Kotani, Masaharu;
Nakada, Hiroshi;
Fukushige, Tomoko;
Kanzaki, Tamotsu

Publication type:

Article

Association between polymorphism of the dopamine transporter gene and early smoking onset: an interaction risk on nicotine dependence.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 1, p. 35

By:

Ling, Daijun;
Niu, Tianhua;
Feng, Yan;
Xing, Houxun;
Xu, Xiping

Publication type:

Article

Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 1, p. 29, doi. 10.1007/s10038-003-0103-6

By:

Sato, Keiko;
Emi, Mitsuru;
Ezura, Yoichi;
Fujita, Yuko;
Takada, Daisuke;
Ishigami, Tomoaki;
Umemura, Satoshi;
Xin, Yunpei;
Wu, Lily L.;
Larrinaga-Shum, Stacey;
Stephenson, Susan H.;
Hunt, Steven C.;
Hopkins, Paul N.

Publication type:

Article