Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 17

Results: 15

Gene-Ontology analysis reveals association of tissue-specific 5′ CpG-island genes with development and embryogenesis.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1969, doi. 10.1093/hmg/ddh207

By:

Robinson, Peter N.;
Böhme, Ulrike;
Lopez, Rodrigo;
Mundlos, Stefan;
Nürnberg, Peter

Publication type:

Article

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1913, doi. 10.1093/hmg/ddh206

By:

Le Gac, Gérald;
Scotet, Virginie;
Ka, Chandran;
Gourlaouen, Isabelle;
Bryckaert, Laurence;
Jacolot, Sandrine;
Mura, Catherine;
Férec, Claude

Publication type:

Article

Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1857, doi. 10.1093/hmg/ddh205

By:

Masny, Peter S.;
Bengtsson, Ulla;
Chung, Seung-Ah;
Martin, Jorge H.;
van Engelen, Baziel;
van der Maarel, Silvere M.;
Winokur, Sara T.

Publication type:

Article

Defects in neuromuscular junction structure in dystrophic muscle are corrected by expression of a NOS transgene in dystrophin-deficient muscles, but not in muscles lacking α- and β1-syntrophins.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1873, doi. 10.1093/hmg/ddh204

By:

Shiao, Terry;
Fond, Andrew;
Deng, Bo;
Wehling-Henricks, Michelle;
Adams, Marvin E.;
Froehner, Stanley C.;
Tidball, James G.

Publication type:

Article

Effects on fear reactivity in XO mice are due to haploinsufficiency of a non-PAR X gene: implications for emotional function in Turner's syndrome.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1849, doi. 10.1093/hmg/ddh203

By:

Isles, Anthony R.;
Davies, William;
Burrmann, Doreen;
Burgoyne, Paul S.;
Wilkinson, Lawrence S.

Publication type:

Article

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping.

Published in:: Human Molecular Genetics, 2004, v. 13, n. 17, p. 1943, doi. 10.1093/hmg/ddh202
Publication type:: Article

Affected sib-pair analysis of the contribution of HLA class I and class II loci to development of cervical cancer.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1951, doi. 10.1093/hmg/ddh201

By:

Engelmark, Malin;
Beskow, Anna;
Magnusson, Jessica;
Erlich, Henry;
Gyllensten, Ulf

Publication type:

Article

Independent effects of APOE on cholesterol metabolism and brain Aβ levels in an Alzheimer disease mouse model.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1959, doi. 10.1093/hmg/ddh199

By:

Mann, Karen M.;
Thorngate, Fayanne E.;
Katoh-Fukui, Yuko;
Hamanaka, Hiroki;
Williams, David L.;
Fujita, Shinobu;
Lamb, Bruce T.

Publication type:

Article

Strain-specific variants of the mouse Cftr promoter region reveal transcriptional regulatory elements.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1933, doi. 10.1093/hmg/ddh200

By:

Ulatowski, Lynn M.;
Whitmore, Kirstin L.;
Romigh, Todd;
VanderWyden, Annalisa S.;
Satinover, Shama M.;
Drumm, Mitchell L.

Publication type:

Article

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1893, doi. 10.1093/hmg/ddh198

By:

Jacobson, Samuel G.;
Sumaroka, Alexander;
Aleman, Tomas S.;
Cideciyan, Artur V.;
Schwartz, Sharon B.;
Roman, Alejandro J.;
McInnes, Roderick R.;
Sheffield, Val C.;
Stone, Edwin M.;
Swaroop, Anand;
Wright, Alan F.

Publication type:

Article

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1839, doi. 10.1093/hmg/ddh197

By:

Leary, Scot C.;
Kaufman, Brett A.;
Pellecchia, Giovanna;
Guercin, Guy-Hellen;
Mattman, Andre;
Jaksch, Michaela;
Shoubridge, Eric A.

Publication type:

Article

Single nucleotide polymorphisms in protein tyrosine phosphatase 1β (PTPN1) are associated with essential hypertension and obesity.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1885, doi. 10.1093/hmg/ddh196

By:

Olivier, Michael;
Hsiung, Chao A.;
Chuang, Lee-Ming;
Ho, Lo-Tone;
Ting, Chih-Tai;
Bustos, Valerie I.;
Lee, Teresa M.;
de Witte, Anniek;
Chen, Yii-Der I.;
Olshen, Richard;
Rodriguez, Beatriz;
Wen, Chi-Chung;
Cox, David R.

Publication type:

Article

Comprehensive whole genome array CGH profiling of mantle cell lymphoma model genomes.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1827, doi. 10.1093/hmg/ddh195

By:

de Leeuw, Ronald J.;
Davies, Jonathan J.;
Rosenwald, Andreas;
Bebb, Gwyn;
Gascoyne, Randy D.;
Dyer, Martin J.S.;
Staudt, Louis M.;
Martinez-Climent, Jose A.;
Lam, Wan L.

Publication type:

Article

Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1903, doi. 10.1093/hmg/ddh194

By:

Wang, Jen C.;
Hinrichs, Anthony L.;
Stock, Heather;
Budde, John;
Allen, Rebecca;
Bertelsen, Sarah;
Kwon, Jennifer M.;
Wu, William;
Dick, Danielle M.;
Rice, John;
Jones, Kevin;
Nurnberger, John I.;
Tischfield, Jay;
Porjesz, Bernice;
Edenberg, Howard J.;
Hesselbrock, Victor;
Crowe, Ray;
Schuckit, Mark;
Begleiter, Henri;
Reich, Theodore

Publication type:

Article

Association and regulation of the BLM helicase by the telomere proteins TRF1 and TRF2.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1919, doi. 10.1093/hmg/ddh193

By:

Lillard-Wetherell, Kate;
Machwe, Amrita;
Langland, Gregory T.;
Combs, Kelly A.;
Behbehani, Gregory K.;
Schonberg, Steven A.;
German, James;
Turchi, John J.;
Orren, David K.;
Groden, Joanna

Publication type:

Article