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Items: 1 to 20 of 384

1.

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.

2.

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA.

Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25.

PMID:
22213089
3.

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
4.

The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.

Stray-Pedersen A, Jónsson T, Heiberg A, Lindman CR, Widing E, Aaberge IS, Borresen-Dale AL, Abrahamsen TG.

Clin Exp Immunol. 2004 Jul;137(1):179-86.

5.

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
6.

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.

7.

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

Reiman A, Srinivasan V, Barone G, Last JI, Wootton LL, Davies EG, Verhagen MM, Willemsen MA, Weemaes CM, Byrd PJ, Izatt L, Easton DF, Thompson DJ, Taylor AM.

Br J Cancer. 2011 Aug 9;105(4):586-91. doi: 10.1038/bjc.2011.266. Epub 2011 Jul 26.

8.

Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

Stewart GS, Last JI, Stankovic T, Haites N, Kidd AM, Byrd PJ, Taylor AM.

J Biol Chem. 2001 Aug 10;276(32):30133-41. Epub 2001 May 29.

9.

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

Jacquemin V, Rieunier G, Jacob S, Bellanger D, d'Enghien CD, Laugé A, Stoppa-Lyonnet D, Stern MH.

Eur J Hum Genet. 2012 Mar;20(3):305-12. doi: 10.1038/ejhg.2011.196. Epub 2011 Nov 9.

10.

ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

Birrell GW, Kneebone K, Nefedov M, Nefedova E, Jartsev MN, Mitsui M, Gatti RA, Lavin MF.

Hum Mutat. 2005 Jun;25(6):593.

PMID:
15880721
11.

Defective anti-polysaccharide antibody response in patients with ataxia-telangiectasia.

Sanal O, Ozbaş-Gerçeker F, Yel L, Ersoy F, Tezcan I, Berkel AI, Metin A, Gatti RA.

Turk J Pediatr. 2004 Jul-Sep;46(3):208-13.

PMID:
15503472
12.

[Ataxia-telangiectasia: a review].

Bott L, Thumerelle C, Cuvellier JC, Deschildre A, Vallée L, Sardet A.

Arch Pediatr. 2006 Mar;13(3):293-8. Epub 2006 Jan 19. Review. French.

PMID:
16423518
13.

New mutations in the ATM gene and clinical data of 25 AT patients.

Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R.

Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2.

PMID:
21965147
14.

Variations of the ataxia telangiectasia mutated gene in patients with chronic lymphocytic leukemia lack substantial impact on progression-free survival and overall survival: a Cancer and Leukemia Group B study.

Lozanski G, Ruppert AS, Heerema NA, Lozanski A, Lucas DM, Gordon A, Gribben JG, Morrison VA, Rai KM, Marcucci G, Larson RA, Byrd JC.

Leuk Lymphoma. 2012 Sep;53(9):1743-8. doi: 10.3109/10428194.2012.668683. Epub 2012 Jun 2.

15.

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.

16.

Newborn screening for SCID identifies patients with ataxia telangiectasia.

Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, Sunderam U, Rana S, Srinivasan R, Brenner SE, Puck J.

J Clin Immunol. 2013 Apr;33(3):540-9. doi: 10.1007/s10875-012-9846-1. Epub 2012 Dec 20.

17.

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Soukupova J, Pohlreich P, Seemanova E.

Neuromolecular Med. 2011 Sep;13(3):204-11. doi: 10.1007/s12017-011-8152-z. Epub 2011 Aug 11.

PMID:
21833744
18.

Mutations in String/CDC25 inhibit cell cycle re-entry and neurodegeneration in a Drosophila model of Ataxia telangiectasia.

Rimkus SA, Katzenberger RJ, Trinh AT, Dodson GE, Tibbetts RS, Wassarman DA.

Genes Dev. 2008 May 1;22(9):1205-20. doi: 10.1101/gad.1639608. Epub 2008 Apr 11.

19.

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

Prodosmo A, De Amicis A, Nisticò C, Gabriele M, Di Rocco G, Monteonofrio L, Piane M, Cundari E, Chessa L, Soddu S.

J Clin Invest. 2013 Mar;123(3):1335-42. doi: 10.1172/JCI67289. Epub 2013 Feb 1.

20.

Different clinical and immunological presentation of ataxia-telangiectasia within the same family.

Soresina A, Meini A, Lougaris V, Cattaneo G, Pellegrino S, Piane M, Darra F, Plebani A.

Neuropediatrics. 2008 Feb;39(1):43-5. doi: 10.1055/s-2008-1076736.

PMID:
18504682

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