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

Results: 12

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
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
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
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
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
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