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303 results
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Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.
Gatti RA, Tward A, Concannon P. Gatti RA, et al. Mol Genet Metab. 1999 Dec;68(4):419-23. doi: 10.1006/mgme.1999.2942. Mol Genet Metab. 1999. PMID: 10607471 Review.
Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect.
Laake K, Telatar M, Geitvik GA, Hansen RO, Heiberg A, Andresen AM, Gatti R, Børresen-Dale AL. Laake K, et al. Eur J Hum Genet. 1998 May-Jun;6(3):235-44. doi: 10.1038/sj.ejhg.5200181. Eur J Hum Genet. 1998. PMID: 9781027
A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.
Seo HC, Yang M, Tonlorenzi R, Willems PJ, Kim AH, Filocamo M, Gatti R, DiCioccio RA, O'Brien JS. Seo HC, et al. Among authors: gatti r. Hum Mol Genet. 1994 Nov;3(11):2065-6. Hum Mol Genet. 1994. PMID: 7874128 No abstract available.
Loss of heterozygosity on chromosome 11 in sporadic gastrinomas.
Sawicki MP, Wan YJ, Johnson CL, Berenson J, Gatti R, Passaro E Jr. Sawicki MP, et al. Hum Genet. 1992 Jun;89(4):445-9. doi: 10.1007/BF00194320. Hum Genet. 1992. PMID: 1352275
A mark on the arm: myths of carrier status in sibs of individuals with ataxia-telangiectasia.
Fanos JH, Gatti RA. Fanos JH, et al. Among authors: gatti ra. Am J Med Genet. 1999 Oct 8;86(4):338-46. doi: 10.1002/(sici)1096-8628(19991008)86:4<338::aid-ajmg8>;2-f. Am J Med Genet. 1999. PMID: 10494090
Becker-Catania SG, Gatti RA. Becker-Catania SG, et al. Among authors: gatti ra. Adv Exp Med Biol. 2001;495:191-8. doi: 10.1007/978-1-4615-0685-0_26. Adv Exp Med Biol. 2001. PMID: 11774566 Review. No abstract available.
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
Wright J, Teraoka S, Onengut S, Tolun A, Gatti RA, Ochs HD, Concannon P. Wright J, et al. Among authors: gatti ra. Am J Hum Genet. 1996 Oct;59(4):839-46. Am J Hum Genet. 1996. PMID: 8808599 Free PMC article.
Predominance of null mutations in ataxia-telangiectasia.
Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A. Gilad S, et al. Among authors: gatti ra. Hum Mol Genet. 1996 Apr;5(4):433-9. doi: 10.1093/hmg/5.4.433. Hum Mol Genet. 1996. PMID: 8845835
CAND3: a ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 11q23.1.
Chen X, Yang L, Udar N, Liang T, Uhrhammer N, Xu S, Bay JO, Wang Z, Dandakar S, Chiplunkar S, Klisak I, Telatar M, Yang H, Concannon P, Gatti RA. Chen X, et al. Among authors: gatti ra. Mamm Genome. 1997 Feb;8(2):129-33. Mamm Genome. 1997. PMID: 9060412
Genetic linkage group (ARG1-D6S33-MYB) on chromosome 6q containing the arginase-1 and MYB genes.
Nguyen J, Charmley P, Grody WW, Cederbaum SD, King MC, Gatti RA. Nguyen J, et al. Among authors: gatti ra. Cytogenet Cell Genet. 1990;54(1-2):95-6. doi: 10.1159/000132968. Cytogenet Cell Genet. 1990. PMID: 1979025 No abstract available.
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