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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2005 | 1 |
2006 | 1 |
2007 | 1 |
2008 | 4 |
2024 | 0 |
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7 results
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Page 1
Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.
Int J Cancer. 2008 Aug 1;123(3):720-4. doi: 10.1002/ijc.23573.
Int J Cancer. 2008.
PMID: 18470917
Free article.
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomäki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nyström M.
Raevaara TE, et al.
Gastroenterology. 2005 Aug;129(2):537-49. doi: 10.1016/j.gastro.2005.06.005.
Gastroenterology. 2005.
PMID: 16083711
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Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.
Greenblatt MS, Brody LC, Foulkes WD, Genuardi M, Hofstra RM, Olivier M, Plon SE, Sijmons RH, Sinilnikova O, Spurdle AB; IARC Unclassified Genetic Variants Working Group.
Greenblatt MS, et al.
Hum Mutat. 2008 Nov;29(11):1273-81. doi: 10.1002/humu.20889.
Hum Mutat. 2008.
PMID: 18951438
Free PMC article.
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Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes AM, Peltomäki P, Mangold E, de la Chapelle A, Greenblatt M, Nyström M.
Ollila S, et al.
Gastroenterology. 2006 Nov;131(5):1408-17. doi: 10.1053/j.gastro.2006.08.044. Epub 2006 Aug 22.
Gastroenterology. 2006.
PMID: 17101317
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Assessment of functional effects of unclassified genetic variants.
Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N; IARC Unclassified Genetic Variants Working Group.
Couch FJ, et al.
Hum Mutat. 2008 Nov;29(11):1314-26. doi: 10.1002/humu.20899.
Hum Mutat. 2008.
PMID: 18951449
Free PMC article.
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Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).
Chan PA, Duraisamy S, Miller PJ, Newell JA, McBride C, Bond JP, Raevaara T, Ollila S, Nyström M, Grimm AJ, Christodoulou J, Oetting WS, Greenblatt MS.
Chan PA, et al.
Hum Mutat. 2007 Jul;28(7):683-93. doi: 10.1002/humu.20492.
Hum Mutat. 2007.
PMID: 17370310
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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.
Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS; IARC Unclassified Genetic Variants Working Group.
Goldgar DE, et al.
Hum Mutat. 2008 Nov;29(11):1265-72. doi: 10.1002/humu.20897.
Hum Mutat. 2008.
PMID: 18951437
Free PMC article.
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