Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 7

Results: 19

Positive association between POU1F1 and mental retardation in young females in the Chinese Han population.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1237, doi. 10.1093/hmg/ddl039

By:

Sun, Yun;
Zhang, Fuchang;
Gao, Jianjun;
Gao, Xiaocai;
Guo, Tingwei;
Zhang, Kejin;
Shi, Yongyong;
Zheng, Zijian;
Tang, Wei;
Zheng, Yonglan;
Li, Sheng;
Li, Xingwang;
Feng, Guoyin;
Shen, Xiaoming;
He, Lin

Publication type:

Article

Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1225, doi. 10.1093/hmg/ddl038

By:

Cardone, Monica;
Polito, Vinicia Assunta;
Pepe, Stefano;
Mann, Linda;
D'Azzo, Alessandra;
Auricchio, Alberto;
Ballabio, Andrea;
Cosma, Maria Pia

Publication type:

Article

Mitotic defects in XRCC3 variants T241M and D213N and their relation to cancer susceptibility.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1217, doi. 10.1093/hmg/ddl037

By:

Lindh, Anna Renglin;
Rafii, Saeed;
Schultz, Niklas;
Cox, Angela;
Helleday, Thomas

Publication type:

Article

Rapamycin pre-treatment protects against apoptosis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1209, doi. 10.1093/hmg/ddl036

By:

Ravikumar, Brinda;
Berger, Zdenek;
Vacher, Coralie;
O'Kane, Cahir J.;
Rubinsztein, David C.

Publication type:

Article

SRPX2 mutations in disorders of language cortex and cognition.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1195, doi. 10.1093/hmg/ddl035

By:

Roll, Patrice;
Rudolf, Gabrielle;
Pereira, Sandrine;
Royer, Barbara;
Scheffer, Ingrid E.;
Massacrier, Annick;
Valenti, Maria-Paola;
Roeckel-Trevisiol, Nathalie;
Jamali, Sarah;
Beclin, Christophe;
Seegmuller, Caroline;
Metz-Lutz, Marie-Noëlle;
Lemainque, Arnaud;
Delepine, Marc;
Caloustian, Christophe;
Martin, Anne de Saint;
Bruneau, Nadine;
Depétris, Danièle;
Mattéi, Marie-Geneviève;
Flori, Elisabeth

Publication type:

Article

Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1187, doi. 10.1093/hmg/ddl034

By:

Huang, Ting-Ting;
Naeemuddin, Mohammed;
Elchuri, Sailaja;
Yamaguchi, Mutsuo;
Kozy, Heather M.;
Carlson, Elaine J.;
Epstein, Charles J.

Publication type:

Article

Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1181, doi. 10.1093/hmg/ddl033

By:

Kim, Jin Hee;
Kim, Heon;
Lee, Kye Young;
Choe, Kang-Hyeon;
Ryu, Jeong-Seon;
Yoon, Ho Il;
Sung, Sook Whan;
Yoo, Keun-Young;
Hong, Yun-Chul

Publication type:

Article

A mouse model for Glut-1 haploinsufficiency.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1169, doi. 10.1093/hmg/ddl032

By:

Wang, Dong;
Pascual, Juan M.;
Yang, Hong;
Engelstad, Kristin;
Mao, Xia;
Cheng, Jianfeng;
Yoo, Jong;
Noebels, Jeffrey L.;
De Vivo, Darryl C.

Publication type:

Article

High-throughput genotyping of intermediate-size structural variation.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1159, doi. 10.1093/hmg/ddl031

By:

Newman, Tera L.;
Rieder, Mark J.;
Morrison, V. Anne;
Sharp, Andrew J.;
Smith, Joshua D.;
Sprague, L. James;
Kaul, Rajinder;
Carlson, Christopher S.;
Olson, Maynard V.;
Nickerson, Deborah A.;
Eichler, Evan E.

Publication type:

Article

Multiple candidate gene analysis identifies α-synuclein as a susceptibility gene for sporadic Parkinson's disease.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1151, doi. 10.1093/hmg/ddl030

By:

Mizuta, Ikuko;
Satake, Wataru;
Nakabayashi, Yuko;
Ito, Chiyomi;
Suzuki, Satoko;
Momose, Yoshio;
Nagai, Yoshitaka;
Oka, Akira;
Inoko, Hidetoshi;
Fukae, Jiro;
Saito, Yuko;
Sawabe, Motoji;
Murayama, Shigeo;
Yamamoto, Mitsutoshi;
Hattori, Nobutaka;
Murata, Miho;
Toda, Tatsushi

Publication type:

Article

Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1143, doi. 10.1093/hmg/ddl029

By:

Gorlov, Ivan P.;
Kimmel, Marek;
Amos, Christopher I.

Publication type:

Article

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1133, doi. 10.1093/hmg/ddl028

By:

Müller, Felix B.;
Huber, Marcel;
Kinaciyan, Tamar;
Hausser, Ingrid;
Schaffrath, Christina;
Krieg, Thomas;
Hohl, Daniel;
Korge, Bernhard P.;
Arin, Meral J.

Publication type:

Article

Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1123, doi. 10.1093/hmg/ddl027

By:

De Bonis, M.L.;
Cerase, A.;
Matarazzo, M.R.;
Ferraro, M.;
Strazzullo, M.;
Hansen, R.S.;
Chiurazzi, P.;
Neri, G.;
D'Esposito, M.

Publication type:

Article

The truncated prelamin A in Hutchinson–Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1113, doi. 10.1093/hmg/ddl026

By:

Delbarre, Erwan;
Tramier, Marc;
Coppey-Moisan, Maïté;
Gaillard, Claire;
Courvalin, Jean-Claude;
Buendia, Brigitte

Publication type:

Article

Allelic recombination and de novo deletions in sperm in the human β-globin gene region.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1099, doi. 10.1093/hmg/ddl025

By:

Holloway, Kim;
Lawson, Victoria E.;
Jeffreys, Alec J.

Publication type:

Article

Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1087, doi. 10.1093/hmg/ddl023

By:

Hannan, Frances;
Ho, Ivan;
Tong, James Jiayuan;
Zhu, Yinghua;
Nurnberg, Peter;
Zhong, Yi

Publication type:

Article

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1071, doi. 10.1093/hmg/ddl022

By:

Robertson, Nahid G.;
Cremers, Cor W.R.J.;
Huygen, Patrick L.M.;
Ikezono, Tetsuo;
Krastins, Bryan;
Kremer, Hannie;
Kuo, Sharon F.;
Liberman, M. Charles;
Merchant, Saumil N.;
Miller, Constance E.;
Nadol, Joseph B.;
Sarracino, David A.;
Verhagen, Wim I.M.;
Morton, Cynthia C.

Publication type:

Article

Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor subunit c (eIF3c).

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1059, doi. 10.1093/hmg/ddl021

By:

Scoles, Daniel R.;
Yong, William H.;
Qin, Yun;
Wawrowsky, Kolja;
Pulst, Stefan Matthias

Publication type:

Article

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1049, doi. 10.1093/hmg/ddl020

By:

Müller, Dominik;
Kausalya, P. Jaya;
Meij, Iwan C.;
Hunziker, Walter

Publication type:

Article