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Year | Number of Results |
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2004 | 1 |
2011 | 1 |
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2024 | 0 |
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Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Am J Hum Genet. 1999 Jun;64(6):1617-31. doi: 10.1086/302418.
Am J Hum Genet. 1999.
PMID: 10330348
Free PMC article.
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.
Eng L, Coutinho G, Nahas S, Yeo G, Tanouye R, Babaei M, Dörk T, Burge C, Gatti RA.
Eng L, et al.
Hum Mutat. 2004 Jan;23(1):67-76. doi: 10.1002/humu.10295.
Hum Mutat. 2004.
PMID: 14695534
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Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators.
Micol R, et al.
J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12.
J Allergy Clin Immunol. 2011.
PMID: 21665257
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Characterization of splice-altering mutations in inherited predisposition to cancer.
Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T.
Casadei S, et al.
Proc Natl Acad Sci U S A. 2019 Dec 26;116(52):26798-26807. doi: 10.1073/pnas.1915608116. Epub 2019 Dec 16.
Proc Natl Acad Sci U S A. 2019.
PMID: 31843900
Free PMC article.
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Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Yadav S, Hu C, Hart SN, Boddicker N, Polley EC, Na J, Gnanaolivu R, Lee KY, Lindstrom T, Armasu S, Fitz-Gibbon P, Ghosh K, Stan DL, Pruthi S, Neal L, Sandhu N, Rhodes DJ, Klassen C, Peethambaram PP, Haddad TC, Olson JE, Hoskin TL, Goetz MP, Domchek SM, Boughey JC, Ruddy KJ, Couch FJ.
Yadav S, et al.
J Clin Oncol. 2020 May 1;38(13):1409-1418. doi: 10.1200/JCO.19.02190. Epub 2020 Mar 3.
J Clin Oncol. 2020.
PMID: 32125938
Free PMC article.
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