Works in Human Molecular Genetics, 2003, Vol 12, Issue 20

Results: 15

A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2679, doi. 10.1093/hmg/ddg294

By:

Haiman, Christopher A.;
Stram, Daniel O.;
Pike, Malcolm C.;
Kolonel, Laurence N.;
Burtt, Noel P.;
Altshuler, David;
Hirschhorn, Joel;
Henderson, Brian E.

Publication type:

Article

Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2609, doi. 10.1093/hmg/ddg293

By:

Abu-Baker, Aida;
Messaed, Christiane;
Laganiere, Janet;
Gaspar, Claudia;
Brais, Bernard;
Rouleau, Guy A.

Publication type:

Article

A reporter for amyloid precursor protein γ-secretase activity in Drosophila.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2669, doi. 10.1093/hmg/ddg292

By:

Guo, Ming;
Hong, Elizabeth J.;
Fernandes, Jolene;
Zipursky, S. Larry;
Hay, Bruce A.

Publication type:

Article

Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader–Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2723, doi. 10.1093/hmg/ddg291

By:

Horsthemke, Bernhard;
Nazlican, Hülya;
Hüsing, Johannes;
Klein-Hitpaß, Ludger;
Claussen, Uwe;
Michel, Susanne;
Lich, Christina;
Gillessen-Kaesbach, Gabriele;
Buiting, Karin

Publication type:

Article

LD mapping of maternally and non-maternally derived alleles and atopy in FcɛRI-β.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2577, doi. 10.1093/hmg/ddg290

By:

Traherne, James A.;
Hill, Michael R.;
Hysi, Pirro;
D'Amato, Mauro;
Broxholme, John;
Mott, Richard;
Moffatt, Miriam F.;
Cookson, William O.C.M.

Publication type:

Article

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2657, doi. 10.1093/hmg/ddg289

By:

Hayward, Caroline;
Shu, Xinhua;
Cideciyan, Artur V.;
Lennon, Alan;
Barran, Perdita;
Zareparsi, Sepideh;
Sawyer, Lindsay;
Hendry, Grace;
Dhillon, Baljean;
Milam, Ann H.;
Luthert, Philip J.;
Swaroop, Anand;
Hastie, Nicholas D.;
Jacobson, Samuel G.;
Wright, Alan F.

Publication type:

Article

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2693, doi. 10.1093/hmg/ddg284

By:

Antonicka, Hana;
Leary, Scot C.;
Guercin, Guy-Hellen;
Agar, Jeffrey N.;
Horvath, Rita;
Kennaway, Nancy G.;
Harding, Cary O.;
Jaksch, Michaela;
Shoubridge, Eric A.

Publication type:

Article

Alpha-synuclein degradation by serine protease neurosin: implication for pathogenesis of synucleinopathies.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2625, doi. 10.1093/hmg/ddg283

By:

Iwata, Atsushi;
Maruyama, Mieko;
Akagi, Takumi;
Hashikawa, Tsutomu;
Kanazawa, Ichiro;
Tsuji, Shoji;
Nukina, Nobuyuki

Publication type:

Article

Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeres.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2711, doi. 10.1093/hmg/ddg282

By:

Alonso, Alicia;
Mahmood, Radma;
Li, Shulan;
Cheung, Fanny;
Yoda, Kinya;
Warburton, Peter E.

Publication type:

Article

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2569, doi. 10.1093/hmg/ddg281

By:

van Heel, David A.;
Dechairo, Bryan M.;
Dawson, Gary;
McGovern, Dermot P.B.;
Negoro, Kenichi;
Carey, Alisoun H.;
Cardon, Lon R.;
Mackay, Ian;
Jewell, Derek P.;
Lench, Nicholas J.

Publication type:

Article

Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2637, doi. 10.1093/hmg/ddg280

By:

Abdelgany, Amr;
Wood, Matthew;
Beeson, David

Publication type:

Article

Phenotypic effects of heterozygosity for a BRCA2 mutation.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2645, doi. 10.1093/hmg/ddg277

By:

Warren, Madhuri;
Lord, Christopher J.;
Masabanda, Julio;
Griffin, Darren;
Ashworth, Alan

Publication type:

Article

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2703, doi. 10.1093/hmg/ddg274

By:

Ward, Christopher J.;
Yuan, David;
Masyuk, Tatyana V.;
Wang, Xiaofang;
Punyashthiti, Rachaneekorn;
Whelan, Shelly;
Bacallao, Robert;
Torra, Roser;
LaRusso, Nicholas F.;
Torres, Vicente E.;
Harris, Peter C.

Publication type:

Article

Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2599, doi. 10.1093/hmg/ddg270

By:

Pankratz, Nathan;
Nichols, William C.;
Uniacke, Sean K.;
Halter, Cheryl;
Murrell, Jill;
Rudolph, Alice;
Shults, Clifford W.;
Conneally, P. Michael;
Foroud, Tatiana

Publication type:

Article

The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2587, doi. 10.1093/hmg/ddg269

By:

Huynh, Duong P.;
Scoles, Daniel R.;
Nguyen, Dung;
Pulst, Stefan M.

Publication type:

Article