363 related articles for article (PubMed ID: 23807571)
21. 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
Hum Genet; 2005 Jul; 117(2-3):101-6. PubMed ID: 15843990
[TBL] [Abstract][Full Text] [Related]
22. Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).
Asadollahi R; Britschgi C; Joset P; Oneda B; Schindler D; Meier UR; Rauch A
Mol Genet Genomic Med; 2020 Oct; 8(10):e1409. PubMed ID: 32748564
[TBL] [Abstract][Full Text] [Related]
23. A novel mutation in
Algahtani H; Shirah B; Algahtani R; Al-Qahtani MH; Abdulkareem AA; Naseer MI
Int J Neurosci; 2021 Feb; 131(2):206-211. PubMed ID: 32172615
[TBL] [Abstract][Full Text] [Related]
24. New mutations in the ATM gene and clinical data of 25 AT patients.
Demuth I; Dutrannoy V; Marques W; 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. PubMed ID: 21965147
[TBL] [Abstract][Full Text] [Related]
25. Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
Izatt L; Vessey C; Hodgson SV; Solomon E
Eur J Hum Genet; 1999 Apr; 7(3):310-20. PubMed ID: 10234507
[TBL] [Abstract][Full Text] [Related]
26. A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
van Belzen MJ; Hiel JA; Weemaes CM; Gabreëls FJ; van Engelen BG; Smeets DF; van den Heuvel LP
Hum Genet; 1998 Feb; 102(2):187-91. PubMed ID: 9521587
[TBL] [Abstract][Full Text] [Related]
27. ATM Gene Mutation Detection Techniques and Functional Analysis.
Rieunier G; D'Enghien CD; Fievet A; Bellanger D; Stoppa-Lyonnet D; Stern MH
Methods Mol Biol; 2017; 1599():25-42. PubMed ID: 28477109
[TBL] [Abstract][Full Text] [Related]
28. Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
Laake K; Jansen L; Hahnemann JM; Brondum-Nielsen K; Lönnqvist T; Kääriäinen H; Sankila R; Lähdesmäki A; Hammarström L; Yuen J; Tretli S; Heiberg A; Olsen JH; Tucker M; Kleinerman R; Børresen-Dale AL
Hum Mutat; 2000 Sep; 16(3):232-46. PubMed ID: 10980530
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. [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]
31. Ataxia-telangiectasia: founder effect among north African Jews.
Gilad S; Bar-Shira A; Harnik R; Shkedy D; Ziv Y; Khosravi R; Brown K; Vanagaite L; Xu G; Frydman M; Lavin MF; Hill D; Tagle DA; Shiloh Y
Hum Mol Genet; 1996 Dec; 5(12):2033-7. PubMed ID: 8968760
[TBL] [Abstract][Full Text] [Related]
32. [Single nucleotide polymorphisms and point mutations of ataxia telangiectasia mutated gene in Chinese of Han ethnicity].
Tang HW; Bian JC; Jiang F; Shen Q; Zhu QX; Zhang HW; Wu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Dec; 21(6):579-82. PubMed ID: 15583986
[TBL] [Abstract][Full Text] [Related]
33. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Teraoka SN; Telatar M; Becker-Catania S; Liang T; Onengüt S; Tolun A; Chessa L; Sanal O; Bernatowska E; Gatti RA; Concannon P
Am J Hum Genet; 1999 Jun; 64(6):1617-31. PubMed ID: 10330348
[TBL] [Abstract][Full Text] [Related]
34. 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; Gatti RA
Am J Med Genet A; 2004 Apr; 126A(1):33-40. PubMed ID: 15039971
[TBL] [Abstract][Full Text] [Related]
35. Ataxia-telangiectasia: A review of clinical features and molecular pathology.
Amirifar P; Ranjouri MR; Yazdani R; Abolhassani H; Aghamohammadi A
Pediatr Allergy Immunol; 2019 May; 30(3):277-288. PubMed ID: 30685876
[TBL] [Abstract][Full Text] [Related]
36. Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia.
Hassin-Baer S; Bar-Shira A; Gilad S; Galanty Y; Khosravi R; Lossos A; Giladi N; Weitz R; Ben-Zeev B; Goldhammer Y; Shiloh Y
J Neurol; 1999 Aug; 246(8):716-9. PubMed ID: 10460451
[TBL] [Abstract][Full Text] [Related]
37. A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
Wright J; Teraoka S; Onengut S; Tolun A; Gatti RA; Ochs HD; Concannon P
Am J Hum Genet; 1996 Oct; 59(4):839-46. PubMed ID: 8808599
[TBL] [Abstract][Full Text] [Related]
38. Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia.
Nurieva W; Ivanova E; Chehab S; Singh P; Reichlmeir M; Szuhai K; Auburger GWJ; Skarnes WC; Ivics Z
Stem Cell Res; 2023 Dec; 73():103247. PubMed ID: 37976651
[TBL] [Abstract][Full Text] [Related]
39. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.
Concannon P; Gatti RA
Hum Mutat; 1997; 10(2):100-7. PubMed ID: 9259193
[TBL] [Abstract][Full Text] [Related]
40. Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A; Bellanger D; Rieunier G; Dubois d'Enghien C; Sophie J; Calvas P; Carriere JP; Anheim M; Castrioto A; Flabeau O; Degos B; Ewenczyk C; Mahlaoui N; Touzot F; Suarez F; Hully M; Roubertie A; Aladjidi N; Tison F; Antoine-Poirel H; Dahan K; Doummar D; Nougues MC; Ioos C; Rougeot C; Masurel A; Bourjault C; Ginglinger E; Prieur F; Siri A; Bordigoni P; Nguyen K; Philippe N; Bellesme C; Demeocq F; Altuzarra C; Mathieu-Dramard M; Couderc F; Dörk T; Auger N; Parfait B; Abidallah K; Moncoutier V; Collet A; Stoppa-Lyonnet D; Stern MH
Hum Mutat; 2019 Oct; 40(10):1713-1730. PubMed ID: 31050087
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
