Gatti RA - Search Results

1

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengüt S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P. Teraoka SN, et al. Among authors: gatti ra. Am J Hum Genet. 1999 Jun;64(6):1617-31. doi: 10.1086/302418. Am J Hum Genet. 1999. PMID: 10330348 Free PMC article.

2

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, Shiloh Y, Concannon P, Good RA, Gatti RA. Telatar M, et al. Among authors: gatti ra. Am J Hum Genet. 1996 Jul;59(1):40-4. Am J Hum Genet. 1996. PMID: 8659541 Free PMC article.

3

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.

4

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 Free article.

5

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.

Concannon P, Gatti RA. Concannon P, et al. Among authors: gatti ra. Hum Mutat. 1997;10(2):100-7. doi: 10.1002/(SICI)1098-1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O. Hum Mutat. 1997. PMID: 9259193 Review.

6

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale AL, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti RA. Telatar M, et al. Among authors: gatti ra. Am J Hum Genet. 1998 Jan;62(1):86-97. doi: 10.1086/301673. Am J Hum Genet. 1998. PMID: 9443866 Free PMC article.

7

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A. Gilad S, et al. Among authors: gatti ra. Am J Hum Genet. 1998 Mar;62(3):551-61. doi: 10.1086/301755. Am J Hum Genet. 1998. PMID: 9497252 Free PMC article.

8

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

Becker-Catania SG, Chen G, Hwang MJ, Wang Z, Sun X, Sanal O, Bernatowska-Matuszkiewicz E, Chessa L, Lee EY, Gatti RA. Becker-Catania SG, et al. Among authors: gatti ra. Mol Genet Metab. 2000 Jun;70(2):122-33. doi: 10.1006/mgme.2000.2998. Mol Genet Metab. 2000. PMID: 10873394

9

ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

Mitui M, Bernatowska E, Pietrucha B, Piotrowska-Jastrzebska J, Eng L, Nahas S, Teraoka S, Sholty G, Purayidom A, Concannon P, Gatti RA. Mitui M, et al. Among authors: gatti ra. Ann Hum Genet. 2005 Nov;69(Pt 6):657-64. doi: 10.1111/j.1529-8817.2005.00199.x. Ann Hum Genet. 2005. PMID: 16266405

10

The ataxia-telangiectasia gene (ATA) on chromosome II is distinct from the ETS-1 gene.

Concannon P, Malhotra U, Charmley P, Reynolds J, Lange K, Gatti RA. Concannon P, et al. Among authors: gatti ra. Am J Hum Genet. 1990 Apr;46(4):789-94. Am J Hum Genet. 1990. PMID: 1969227 Free PMC article.

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