Gatti RA - Search Results

1

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.

2

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

Mitui M, Campbell C, Coutinho G, Sun X, Lai CH, Thorstenson Y, Castellvi-Bel S, Fernandez L, Monros E, Carvalho BT, Porras O, Fontan G, Gatti RA. Mitui M, et al. Among authors: gatti ra. Hum Mutat. 2003 Jul;22(1):43-50. doi: 10.1002/humu.10232. Hum Mutat. 2003. PMID: 12815592

3

Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.

Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P, Gatti RA. Chun HH, et al. Among authors: gatti ra. Mol Genet Metab. 2003 Dec;80(4):437-43. doi: 10.1016/j.ymgme.2003.09.008. Mol Genet Metab. 2003. PMID: 14654357

4

Ataxia-telangiectasia, an evolving phenotype.

Chun HH, Gatti RA. Chun HH, et al. Among authors: gatti ra. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1187-96. doi: 10.1016/j.dnarep.2004.04.010. DNA Repair (Amst). 2004. PMID: 15279807 Review.

5

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

6

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.

7

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.

8

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.

9

A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

Telatar M, Wang S, Castellvi-Bel S, Tai LQ, Sheikhavandi S, Regueiro JR, Porras O, Gatti RA. Telatar M, et al. Among authors: gatti ra. Mol Genet Metab. 1998 May;64(1):36-43. doi: 10.1006/mgme.1998.2693. Mol Genet Metab. 1998. PMID: 9682216

10

NS22: a highly polymorphic complex microsatellite marker within the ATM gene.

Udar N, Farzad S, Tai LQ, Bay JO, Gatti RA. Udar N, et al. Among authors: gatti ra. Am J Med Genet. 1999 Feb 12;82(4):287-9. doi: 10.1002/(sici)1096-8628(19990212)82:4<287::aid-ajmg2>3.0.co;2-#. Am J Med Genet. 1999. PMID: 10051159

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