211 related articles for article (PubMed ID: 18504682)
1. 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. PubMed ID: 18504682
[TBL] [Abstract][Full Text] [Related]
2. Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome.
Aghamohammadi A; Imai K; Moazzami K; Abolhassani H; Tabatabaeiyan M; Parvaneh N; Nasiri Kalmarzi R; Nakagawa N; Oshima K; Ohara O; Nonoyama S; Rezaei N
J Investig Allergol Clin Immunol; 2010; 20(5):442-5. PubMed ID: 20945614
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 22213089
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 15880721
[TBL] [Abstract][Full Text] [Related]
5. The ATM gene and ataxia telangiectasia.
Mavrou A; Tsangaris GT; Roma E; Kolialexi A
Anticancer Res; 2008; 28(1B):401-5. PubMed ID: 18383876
[TBL] [Abstract][Full Text] [Related]
6. [Ataxia-telangiectasia: a review].
Bott L; Thumerelle C; Cuvellier JC; Deschildre A; Vallée L; Sardet A
Arch Pediatr; 2006 Mar; 13(3):293-8. PubMed ID: 16423518
[TBL] [Abstract][Full Text] [Related]
7. Use of D11S2179 and D11S1343 as markers for prenatal diagnosis of ataxia telangiectasia in Iranian patients.
Bayat B; Houshmand M; Sanati MH; Moin M; Panahi MS; Aleyasin SA; Isaian A; Farhoodi A
Arch Med Res; 2007 Oct; 38(7):803-5. PubMed ID: 17845903
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 16941484
[TBL] [Abstract][Full Text] [Related]
9. Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.
Hiel JA; van Engelen BG; Weemaes CM; Broeks A; Verrips A; ter Laak H; Vingerhoets HM; van den Heuvel LP; Lammens M; Gabreëls FJ; Last JI; Taylor AM
Neurology; 2006 Jul; 67(2):346-9. PubMed ID: 16864838
[TBL] [Abstract][Full Text] [Related]
10. [From gene to disease; ataxia telangiectasia].
Broeks A; van 't Veer LJ; Ottenheim C; Hiel JA; Kleijer WJ; Weemaes C
Ned Tijdschr Geneeskd; 2003 Mar; 147(9):386-9. PubMed ID: 12661456
[TBL] [Abstract][Full Text] [Related]
11. Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia.
Lavin MF; Gueven N; Bottle S; Gatti RA
Br Med Bull; 2007; 81-82():129-47. PubMed ID: 17586848
[TBL] [Abstract][Full Text] [Related]
12. Cytoplasmic ATM protein kinase: an emerging therapeutic target for diabetes, cancer and neuronal degeneration.
Yang DQ; Halaby MJ; Li Y; Hibma JC; Burn P
Drug Discov Today; 2011 Apr; 16(7-8):332-8. PubMed ID: 21315178
[TBL] [Abstract][Full Text] [Related]
13. 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;
J Allergy Clin Immunol; 2011 Aug; 128(2):382-9.e1. PubMed ID: 21665257
[TBL] [Abstract][Full Text] [Related]
14. Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.
Sutton IJ; Last JI; Ritchie SJ; Harrington HJ; Byrd PJ; Taylor AM
Ann Neurol; 2004 Jun; 55(6):891-5. PubMed ID: 15174027
[TBL] [Abstract][Full Text] [Related]
15. Child with ataxia telangiectasia developing acute myeloid leukemia.
Lin CH; Lin WC; Wang CH; Ho YJ; Chiang IP; Peng CT; Wu KH
J Clin Oncol; 2010 May; 28(14):e213-4. PubMed ID: 20308662
[No Abstract] [Full Text] [Related]
16. Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation.
Honda M; Takagi M; Chessa L; Morio T; Mizuatni S
Leukemia; 2009 Feb; 23(2):409-14. PubMed ID: 18633429
[No Abstract] [Full Text] [Related]
17. 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
Ann Hum Genet; 2005 Nov; 69(Pt 6):657-64. PubMed ID: 16266405
[TBL] [Abstract][Full Text] [Related]
18. Down-regulation of ATM protein in HRS cells of nodular sclerosis Hodgkin's lymphoma in children occurs in the absence of ATM gene inactivation.
Bose S; Starczynski J; Chukwuma M; Baumforth K; Wei W; Morgan S; Byrd P; Ying J; Grundy R; Mann JR; Tao Q; Taylor AM; Murray PG; Stankovic T
J Pathol; 2007 Nov; 213(3):329-36. PubMed ID: 17876757
[TBL] [Abstract][Full Text] [Related]
19. [Research on clinical characteristics and ATM gene mutations in Chinese patients with ataxia-telangiectasia].
Jiang H; Tang BS; Hu ZM; Xia K; Xu B; Tang JG
Zhonghua Yi Xue Za Zhi; 2005 Apr; 85(16):1117-20. PubMed ID: 16029571
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 19691550
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]