Germline mutation of ARF in a melanoma kindred (English)
- New search for: Hewitt, Chelsee
- New search for: Lee Wu, Chu
- New search for: Evans, Gareth
- New search for: Howell, A.
- New search for: Elles, Robert G.
- New search for: Jordan, Richard
- New search for: Sloan, Philip
- New search for: Read, Andrew P.
- New search for: Thakker, Nalin
- New search for: Hewitt, Chelsee
- New search for: Lee Wu, Chu
- New search for: Evans, Gareth
- New search for: Howell, A.
- New search for: Elles, Robert G.
- New search for: Jordan, Richard
- New search for: Sloan, Philip
- New search for: Read, Andrew P.
- New search for: Thakker, Nalin
In:
Human molecular genetics
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11
, 11
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1273-
;
2002
- Article (Journal) / Electronic Resource
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Title:Germline mutation of ARF in a melanoma kindred
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Contributors:Hewitt, Chelsee ( author ) / Lee Wu, Chu ( author ) / Evans, Gareth ( author ) / Howell, A. ( author ) / Elles, Robert G. ( author ) / Jordan, Richard ( author ) / Sloan, Philip ( author ) / Read, Andrew P. ( author ) / Thakker, Nalin ( author )
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Published in:Human molecular genetics ; 11, 11 ; 1273-
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Publisher:
- New search for: Oxford University Press
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Publication date:2002-05-16
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 11, Issue 11
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1251
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Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in miceGanesh, Subramaniam / Delgado-Escueta, Antonio V. / Sakamoto, Toshiro / Avila, Maria Rosa / Machado-Salas, Jesus / Hoshii, Yoshinobu / Akagi, Takumi / Gomi, Hiroshi / Suzuki, Toshimitsu / Amano, Kenji et al. | 2002
- 1263
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Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotypeGanesh, Subramaniam / Delgado-Escueta, Antonio V. / Suzuki, Toshimitsu / Francheschetti, Silvana / Riggio, Concetta / Avanzini, Giuiliano / Rabinowicz, Adrian / Bohlega, Saeed / Bailey, Julia / Alonso, Maria E. et al. | 2002
- 1273
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Germline mutation of ARF in a melanoma kindredHewitt, Chelsee / Lee Wu, Chu / Evans, Gareth / Howell, A. / Elles, Robert G. / Jordan, Richard / Sloan, Philip / Read, Andrew P. / Thakker, Nalin et al. | 2002
- 1281
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Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-{kappa}B transcription factorsvan 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. et al. | 2002
- 1291
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Optimedin: a novel olfactomedin-related protein that interacts with myocilinTorrado, Mario / Trivedi, Ritu / Zinovieva, Rina / Karavanova, Irina / Tomarev, Stanislav I. et al. | 2002
- 1303
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Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndromeKariola, Reetta / Raevaara, Tiina E. / Lönnqvist, Karin E. / Nyström-Lahti, Minna et al. | 2002
- 1311
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A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 proteinGottfried, Irit / Landau, Marina / Glaser, Fabian / Di, Wei-Li / Ophir, Joseph / Mevorah, Barukh / Ben-Tal, Nir / Kelsell, David P. / Avraham, Karen B. et al. | 2002
- 1317
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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndromeWeksberg, Rosanna / Shuman, Cheryl / Caluseriu, Oana / Smith, Adam C. / Fei, Yan-Ling / Nishikawa, Joy / Stockley, Tracy L. / Best, Lyle / Chitayat, David / Olney, Ann et al. | 2002
- 1327
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CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5qNathanson, Katherine L. / Shugart, Yin Y. / Omaruddin, Romaica / Szabo, Csilla / Goldgar, David / Rebbeck, Timothy R. / Weber, Barbara L. et al. | 2002
- 1333
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Protein localization in the human eye and genetic screen of opticinFriedman, James S. / Faucher, Mathieu / Hiscott, Paul / Biron, Vincent L. / Malenfant, Mario / Turcotte, Pierre / Raymond, Vincent / Walter, Michael A. et al. | 2002
- 1343
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Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profilingMyerowitz, Rachel / Lawson, Douglas / Mizukami, Hiroki / Mi, Yide / Tifft, Cynthia J. / Proia, Richard L. et al. | 2002
- 1351
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The mitochondrial protein frataxin prevents nuclear damageKarthikeyan, Gopalakrishnan / Lewis, L. Kevin / Resnick, Michael A. et al. | 2002