Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 11

Results: 12

Protein localization in the human eye and genetic screen of opticin.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1333, doi. 10.1093/hmg/11.11.1333

By:

Friedman, James S.;
Faucher, Mathieu;
Hiscott, Paul;
Biron, Vincent L.;
Malenfant, Mario;
Turcotte, Pierre;
Raymond, Vincent;
Walter, Michael A.

Publication type:

Article

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1317, doi. 10.1093/hmg/11.11.1317

By:

Weksberg, Rosanna;
Shuman, Cheryl;
Caluseriu, Oana;
Smith, Adam C.;
Fei, Yan-Ling;
Nishikawa, Joy;
Stockley, Tracy L.;
Best, Lyle;
Chitayat, David;
Olney, Ann;
Ives, Elizabeth;
Schneider, Adele;
Bestor, Timothy H.;
Li, Madeline;
Sadowski, Paul;
Squire, Jeremy

Publication type:

Article

The mitochondrial protein frataxin prevents nuclear damage.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1351, doi. 10.1093/hmg/11.11.1351

By:

Karthikeyan, Gopalakrishnan;
Lewis, L. Kevin;
Resnick, Michael A.

Publication type:

Article

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1311, doi. 10.1093/hmg/11.11.1311

By:

Gottfried, Irit;
Landau, Marina;
Glaser, Fabian;
Di, Wei-Li;
Ophir, Joseph;
Mevorah, Barukh;
Ben-Tal, Nir;
Kelsell, David P.;
Avraham, Karen B.

Publication type:

Article

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-κB transcription factors.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1281, doi. 10.1093/hmg/11.11.1281

By:

van Heel, David A.;
Udalova, Irina A.;
De Silva, Arjuna P.;
McGovern, Dermot P.;
Kinouchi, Yoshitaka;
Hull, Jeremy;
Lench, Nicholas J.;
Cardon, Lon R.;
Carey, Alisoun H.;
Jewell, Derek P.;
Kwiatkowski, Dominic

Publication type:

Article

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1251, doi. 10.1093/hmg/11.11.1251

By:

Ganesh, Subramaniam;
Delgado-Escueta, Antonio V.;
Sakamoto, Toshiro;
Avila, Maria Rosa;
Machado-Salas, Jesus;
Hoshii, Yoshinobu;
Akagi, Takumi;
Gomi, Hiroshi;
Suzuki, Toshimitsu;
Amano, Kenji;
Agarwala, Kishan Lal;
Hasegawa, Yuki;
Bai, Dong-Sheng;
Ishihara, Tokuhiro;
Hashikawa, Tsutomu;
Itohara, Shigeyoshi;
Cornford, Eain M.;
Niki, Hiroaki;
Yamakawa, Kazuhiro

Publication type:

Article

Molecular pathophysiology in Tay–Sachs and Sandhoff diseases as revealed by gene expression profiling.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1343, doi. 10.1093/hmg/11.11.1343

By:

Myerowitz, Rachel;
Lawson, Douglas;
Mizukami, Hiroki;
Mi, Yide;
Tifft, Cynthia J.;
Proia, Richard L.

Publication type:

Article

Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1303, doi. 10.1093/hmg/11.11.1303

By:

Kariola, Reetta;
Raevaara, Tiina E.;
Lönnqvist, Karin E.;
Nyström-Lahti, Minna

Publication type:

Article

Germline mutation of ARF in a melanoma kindred.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1273, doi. 10.1093/hmg/11.11.1273

By:

Hewitt, Chelsee;
Lee Wu, Chu;
Evans, Gareth;
Howell, A.;
Elles, Robert G.;
Jordan, Richard;
Sloan, Philip;
Read, Andrew P.;
Thakker, Nalin

Publication type:

Article

Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1263, doi. 10.1093/hmg/11.11.1263

By:

Ganesh, Subramaniam;
Delgado-Escueta, Antonio V.;
Suzuki, Toshimitsu;
Francheschetti, Silvana;
Riggio, Concetta;
Avanzini, Giuiliano;
Rabinowicz, Adrian;
Bohlega, Saeed;
Bailey, Julia;
Alonso, Maria E.;
Rasmussen, Astrid;
Thomson, Alfredo E.;
Ochoa, Adriana;
Prado, Aurelio J.;
Medina, Marco T.;
Yamakawa, Kazuhiro

Publication type:

Article

Optimedin: a novel olfactomedin-related protein that interacts with myocilin.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1291, doi. 10.1093/hmg/11.11.1291

By:

Torrado, Mario;
Trivedi, Ritu;
Zinovieva, Rina;
Karavanova, Irina;
Tomarev, Stanislav I.

Publication type:

Article

CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1327, doi. 10.1093/hmg/11.11.1327

By:

Nathanson, Katherine L.;
Shugart, Yin Y.;
Omaruddin, Romaica;
Szabo, Csilla;
Goldgar, David;
Rebbeck, Timothy R.;
Weber, Barbara L.

Publication type:

Article