Gatti RA - Search Results

1

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

Coutinho G, Mitui M, Campbell C, Costa Carvalho BT, Nahas S, Sun X, Huo Y, Lai CH, Thorstenson Y, Tanouye R, Raskin S, Kim CA, Llerena J Jr, Gatti RA. Coutinho G, et al. Among authors: gatti ra. Am J Med Genet A. 2004 Apr 1;126A(1):33-40. doi: 10.1002/ajmg.a.20570. Am J Med Genet A. 2004. PMID: 15039971

2

ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.

Campbell C, Mitui M, Eng L, Coutinho G, Thorstenson Y, Gatti RA. Campbell C, et al. Among authors: gatti ra. Hum Mutat. 2003 Jan;21(1):80-5. doi: 10.1002/humu.10156. Hum Mutat. 2003. PMID: 12497634

3

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

4

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

5

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. Among authors: gatti ra. Hum Mutat. 2004 Jan;23(1):67-76. doi: 10.1002/humu.10295. Hum Mutat. 2004. PMID: 14695534

6

Immunoassay to measure ataxia-telangiectasia mutated protein in cellular lysates.

Butch AW, Chun HH, Nahas SA, Gatti RA. Butch AW, et al. Among authors: gatti ra. Clin Chem. 2004 Dec;50(12):2302-8. doi: 10.1373/clinchem.2004.039461. Epub 2004 Oct 14. Clin Chem. 2004. PMID: 15486025

7

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons.

Lai CH, Chun HH, Nahas SA, Mitui M, Gamo KM, Du L, Gatti RA. Lai CH, et al. Among authors: gatti ra. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15676-81. doi: 10.1073/pnas.0405155101. Epub 2004 Oct 21. Proc Natl Acad Sci U S A. 2004. PMID: 15498871 Free PMC article.

8

ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

Babaei M, Mitui M, Olson ER, Gatti RA. Babaei M, et al. Among authors: gatti ra. Hum Genet. 2005 Jul;117(2-3):101-6. doi: 10.1007/s00439-005-1254-7. Epub 2005 Apr 21. Hum Genet. 2005. PMID: 15843990

9

Rapid screen for truncating ATM mutations by PTT-ELISA.

Du L, Lai CH, Concannon P, Gatti RA. Du L, et al. Among authors: gatti ra. Mutat Res. 2008 Apr 2;640(1-2):139-44. doi: 10.1016/j.mrfmmm.2008.01.002. Epub 2008 Jan 31. Mutat Res. 2008. PMID: 18321536

10

Assaying Radiosensitivity of Ataxia-Telangiectasia.

Hu H, Nahas S, Gatti RA. Hu H, et al. Among authors: gatti ra. Methods Mol Biol. 2017;1599:1-11. doi: 10.1007/978-1-4939-6955-5_1. Methods Mol Biol. 2017. PMID: 28477107

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