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Results: 1 to 20 of 115

1.

Ataxia-telangiectasia mutated (ATM) genetic variant in Italian centenarians.

Piaceri I, Bagnoli S, Tedde A, Sorbi S, Nacmias B.

Neurol Sci. 2013 Apr;34(4):573-5. doi: 10.1007/s10072-012-1188-5. Epub 2012 Sep 9.

PMID:
22960875
[PubMed - indexed for MEDLINE]
2.

A functional single nucleotide polymorphism in promoter of ATM is associated with longevity.

Chen T, Dong B, Lu Z, Tian B, Zhang J, Zhou J, Wu H, Zhang Y, Wu J, Lin P, Zhang J, Xu H, Mo X.

Mech Ageing Dev. 2010 Oct;131(10):636-40. doi: 10.1016/j.mad.2010.08.009. Epub 2010 Sep 15.

PMID:
20816691
[PubMed - indexed for MEDLINE]
3.

Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.

Landouré G, Mochel F, Meilleur K, Ly M, Sangaré M, Bocoum N, Bagayoko K, Coulibaly T, Sarr AM, Bâ HO, Coulibaly S, Guinto CO, Touré M, Traoré M, Fischbeck KH.

J Neurol. 2013 Jan;260(1):324-6. doi: 10.1007/s00415-012-6738-5. Epub 2012 Nov 11. No abstract available.

PMID:
23142947
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

Cavalieri S, Funaro A, Porcedda P, Turinetto V, Migone N, Gatti RA, Brusco A.

Hum Mutat. 2006 Oct;27(10):1061.

PMID:
16941484
[PubMed - indexed for MEDLINE]
5.

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

Silvestri G, Masciullo M, Piane M, Savio C, Modoni A, Santoro M, Chessa L.

J Neurol. 2010 Oct;257(10):1738-40. doi: 10.1007/s00415-010-5583-7. Epub 2010 May 18. No abstract available.

PMID:
20480175
[PubMed - indexed for MEDLINE]
6.

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.

J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12.

PMID:
21665257
[PubMed - indexed for MEDLINE]
7.

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B.

Ann Hum Genet. 2009 Sep;73(Pt 5):532-9. doi: 10.1111/j.1469-1809.2009.00535.x.

PMID:
19691550
[PubMed - indexed for MEDLINE]
8.

Functional polymorphism rs189037 in the promoter region of ATM gene is associated with angiographically characterized coronary stenosis.

Li S, Zhang L, Chen T, Tian B, Deng X, Zhao Z, Yuan P, Dong B, Zhang Y, Mo X.

Atherosclerosis. 2011 Dec;219(2):694-7. doi: 10.1016/j.atherosclerosis.2011.08.040. Epub 2011 Sep 3.

PMID:
21937043
[PubMed - indexed for MEDLINE]
9.

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M, Piane M, Torrente I, Sinibaldi L, Rizzo G, Savio C, Lulli P, De Luca A, Dallapiccola B, Chessa L.

Dis Markers. 2006;22(4):257-64.

PMID:
17124347
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.

Jiang H, Tang B, Xia K, Hu Z, Shen L, Tang J, Zhao G, Zhang Y, Cai F, Pan Q, Long Z, Wang G, Dai H.

J Neurol Sci. 2006 Feb 15;241(1-2):1-6. Epub 2005 Dec 27.

PMID:
16380133
[PubMed - indexed for MEDLINE]
11.

[Association between single nucleotide polymorphism locus rs189037 in the promoter of ATM gene and nasopharyngeal carcinoma susceptibility in Cantonese].

Wang HM, Shi YS, Li QS, Liu Y, Zheng XK.

Nan Fang Yi Ke Da Xue Xue Bao. 2011 Nov;31(11):1863-6. Chinese.

PMID:
22126766
[PubMed - indexed for MEDLINE]
Free Article
12.

The Ataxia-telangiectasia mutated gene and breast cancer: gene expression profiles and sequence variants.

Hall J.

Cancer Lett. 2005 Sep 28;227(2):105-14. Epub 2005 Jan 8. Review.

PMID:
16112413
[PubMed - indexed for MEDLINE]
13.

Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia.

Brasseur B, Beauloye V, Chantrain C, Daumerie C, Vermylen C, Waignein F, Brichard B.

Pediatr Blood Cancer. 2008 May;50(5):1058-60.

PMID:
16917912
[PubMed - indexed for MEDLINE]
14.

Association between ataxia telangiectasia mutated gene polymorphisms and breast cancer in Taiwanese females.

Wang HC, Chang WS, Tsai RY, Tsai CW, Liu LC, Su CH, Cheng HN, Tsou YA, Sun SS, Lin CC, Bau DT.

Anticancer Res. 2010 Dec;30(12):5217-21.

PMID:
21187516
[PubMed - indexed for MEDLINE]
15.

Characterization of the porcine ATM gene: towards the generation of a novel non-murine animal model for Ataxia-Telangiectasia.

Rogatcheva MB, Fritz KL, Rund LA, Pollock CB, Beever JE, Counter CM, Schook LB.

Gene. 2007 Dec 15;405(1-2):27-35. Epub 2007 Aug 30.

PMID:
17933474
[PubMed - indexed for MEDLINE]
16.

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

Mitui M, Nahas SA, Du LT, Yang Z, Lai CH, Nakamura K, Arroyo S, Scott S, Purayidom A, Concannon P, Lavin M, Gatti RA.

Hum Mutat. 2009 Jan;30(1):12-21. doi: 10.1002/humu.20805.

PMID:
18634022
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The ATM gene and ataxia telangiectasia.

Mavrou A, Tsangaris GT, Roma E, Kolialexi A.

Anticancer Res. 2008 Jan-Feb;28(1B):401-5. Review.

PMID:
18383876
[PubMed - indexed for MEDLINE]
Free Article
18.

Ataxia-telangiectasia mutated kinase (ATM) as a central regulator of radiation-induced DNA damage response.

Tichý A, Vávrová J, Pejchal J, Rezácová M.

Acta Medica (Hradec Kralove). 2010;53(1):13-7. Review.

PMID:
20608227
[PubMed - indexed for MEDLINE]
Free Article
19.

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.

Staples ER, McDermott EM, Reiman A, Byrd PJ, Ritchie S, Taylor AM, Davies EG.

Clin Exp Immunol. 2008 Aug;153(2):214-20. doi: 10.1111/j.1365-2249.2008.03684.x. Epub 2008 May 26.

PMID:
18505428
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.

Olsen JH, Hahnemann JM, Børresen-Dale AL, Tretli S, Kleinerman R, Sankila R, Hammarström L, Robsahm TE, Kääriäinen H, Bregård A, Brøndum-Nielsen K, Yuen J, Tucker M.

Br J Cancer. 2005 Jul 25;93(2):260-5.

PMID:
15942625
[PubMed - indexed for MEDLINE]
Free PMC Article

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