135 related articles for article (PubMed ID: 12655570)
1. Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.
Saviozzi S; Saluto A; Piane M; Prudente S; Migone N; DeMarchi M; Brusco A; Chessa L
Hum Mutat; 2003 Apr; 21(4):450. PubMed ID: 12655570
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.
Dörk T; Bendix R; Bremer M; Rades D; Klöpper K; Nicke M; Skawran B; Hector A; Yamini P; Steinmann D; Weise S; Stuhrmann M; Karstens JH
Cancer Res; 2001 Oct; 61(20):7608-15. PubMed ID: 11606401
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
Broeks A; de Klein A; Floore AN; Muijtjens M; Kleijer WJ; Jaspers NG; van 't Veer LJ
Hum Mutat; 1998; 12(5):330-7. PubMed ID: 9792409
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.
Angèle S; Laugé A; Fernet M; Moullan N; Beauvais P; Couturier J; Stoppa-Lyonnet D; Hall J
Hum Mutat; 2003 Feb; 21(2):169-70. PubMed ID: 12552566
[TBL] [Abstract][Full Text] [Related]
8. Comprehensive scanning of the ATM gene with DOVAM-S.
Buzin CH; Gatti RA; Nguyen VQ; Wen CY; Mitui M; Sanal O; Chen JS; Nozari G; Mengos A; Li X; Fujimura F; Sommer SS
Hum Mutat; 2003 Feb; 21(2):123-31. PubMed ID: 12552559
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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; 405(1-2):27-35. PubMed ID: 17933474
[TBL] [Abstract][Full Text] [Related]
11. Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia.
Vorechovský I; Luo L; Dyer MJ; Catovsky D; Amlot PL; Yaxley JC; Foroni L; Hammarström L; Webster AD; Yuille MA
Nat Genet; 1997 Sep; 17(1):96-9. PubMed ID: 9288106
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. 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]
14. 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
Hum Mutat; 2003 Jul; 22(1):43-50. PubMed ID: 12815592
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
Castellví-Bel S; Sheikhavandi S; Telatar M; Tai LQ; Hwang M; Wang Z; Yang Z; Cheng R; Gatti RA
Hum Mutat; 1999; 14(2):156-62. PubMed ID: 10425038
[TBL] [Abstract][Full Text] [Related]
17. Ataxia-telangiectasia and T-cell leukemias: no evidence for somatic ATM mutation in sporadic T-ALL or for hypermethylation of the ATM-NPAT/E14 bidirectional promoter in T-PLL.
Luo L; Lu FM; Hart S; Foroni L; Rabbani H; Hammarström L; Yuille MR; Catovsky D; Webster AD; Vorechovský I
Cancer Res; 1998 Jun; 58(11):2293-7. PubMed ID: 9622061
[TBL] [Abstract][Full Text] [Related]
18. Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.
Coutinho G; Xie J; Du L; Brusco A; Krainer AR; Gatti RA
Hum Mutat; 2005 Feb; 25(2):118-24. PubMed ID: 15643608
[TBL] [Abstract][Full Text] [Related]
19. ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.
Sasaki T; Tian H; Kukita Y; Inazuka M; Tahira T; Imai T; Yamauchi M; Saito T; Hori T; Hashimoto-Tamaoki T; Komatsu K; Nikaido O; Hayashi K
Hum Mutat; 1998; 12(3):186-95. PubMed ID: 9711876
[TBL] [Abstract][Full Text] [Related]
20. Exon skipping in the ATM gene in normal individuals: the effect of blood sample storage on RT-PCR analysis.
Birrell GW; Ramsay JR; Tung JJ; Lavin MF
Hum Mutat; 2001; 17(1):75-6. PubMed ID: 11139252
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]