178 related articles for article (PubMed ID: 30816533)
41. 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]
42. Clinical variability in ataxia-telangiectasia.
Lohmann E; Krüger S; Hauser AK; Hanagasi H; Guven G; Erginel-Unaltuna N; Biskup S; Gasser T
J Neurol; 2015 Jul; 262(7):1724-7. PubMed ID: 25957637
[TBL] [Abstract][Full Text] [Related]
43. Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.
Volkow ND; Tomasi D; Wang GJ; Studentsova Y; Margus B; Crawford TO
Brain; 2014 Jun; 137(Pt 6):1753-61. PubMed ID: 24747834
[TBL] [Abstract][Full Text] [Related]
44. A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
Alonazi NA; Hundallah KJ; Al Hashem AM; Mohamed S
Neurosciences (Riyadh); 2018 Apr; 23(2):162-164. PubMed ID: 29664460
[TBL] [Abstract][Full Text] [Related]
45. Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays.
Chessa L; Piane M; Prudente S; Carducci C; Mazzilli MC; Pachti A; Negrini M; Narducci MG; Russo G; Frati L
Prenat Diagn; 1999 Jun; 19(6):542-5. PubMed ID: 10416970
[TBL] [Abstract][Full Text] [Related]
46. Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia.
Bistritzer J; Mijalovsky A; Nissenkorn A; Flusser H; Levy J; Nahum A; Broides A
Eur J Paediatr Neurol; 2021 May; 32():36-39. PubMed ID: 33743388
[TBL] [Abstract][Full Text] [Related]
47. Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.
Sze SK; Lederman HM; Crawford TO; Wangler MF; Lewis AM; Kastan MB; Dibra HK; Taylor AMR; Wechsler DS
J Pediatr Hematol Oncol; 2021 Jan; 43(1):e138-e140. PubMed ID: 31743320
[TBL] [Abstract][Full Text] [Related]
48. Genetics of ataxia telangiectasia in a highly consanguineous population.
Al-Muhaizea MA; Aldeeb H; Almass R; Jaber H; Binhumaid F; Alquait L; Abukhalid M; Aldhalaan H; Alsagob M; Al-Bakheet A; Aldosary M; Alkofide H; Alrasheed MM; Colak D; Kaya N
Ann Hum Genet; 2022 Jan; 86(1):34-44. PubMed ID: 34582042
[TBL] [Abstract][Full Text] [Related]
49. ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
Stankovic T; Kidd AM; Sutcliffe A; McGuire GM; Robinson P; Weber P; Bedenham T; Bradwell AR; Easton DF; Lennox GG; Haites N; Byrd PJ; Taylor AM
Am J Hum Genet; 1998 Feb; 62(2):334-45. PubMed ID: 9463314
[TBL] [Abstract][Full Text] [Related]
50. Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia.
Shalash AS; Rösler TW; Salama M; Pendziwiat M; Müller SH; Hopfner F; Höglinger GU; Kuhlenbäumer G
Neurogenetics; 2021 May; 22(2):143-147. PubMed ID: 33779842
[TBL] [Abstract][Full Text] [Related]
51. Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
Schoenaker MHD; Van Os NJH; Van der Flier M; Van Deuren M; Seyger MM; Taylor AMR; Weemaes CMR; Willemsen MAAP
Eur J Med Genet; 2018 May; 61(5):284-287. PubMed ID: 29288088
[TBL] [Abstract][Full Text] [Related]
52. Homozygous ATM mutation due to germline uniparental isodisomy in patient with T acute lymphoblastic leukemia and hepatosplenic T-cell lymphoma.
Jacobs MF; Robinson D; Wu YM; Opipari VP; Mody R
Cancer Genet; 2022 Aug; 266-267():15-18. PubMed ID: 35644065
[TBL] [Abstract][Full Text] [Related]
53. 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. PubMed ID: 22071889
[TBL] [Abstract][Full Text] [Related]
54. Ataxia-telangiectasia with novel splicing mutations in the ATM gene.
Jeong H; Huh HJ; Youn J; Kim JS; Cho JW; Ki CS
Ann Lab Med; 2014 Jan; 34(1):80-4. PubMed ID: 24422204
[No Abstract] [Full Text] [Related]
55. Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant.
Bielorai B; Fisher T; Waldman D; Lerenthal Y; Nissenkorn A; Tohami T; Marek D; Amariglio N; Toren A
Pediatr Hematol Oncol; 2013 Sep; 30(6):574-82. PubMed ID: 23509889
[TBL] [Abstract][Full Text] [Related]
56. ATM mutation spectrum in Russian children with ataxia-telangiectasia.
Suspitsin E; Sokolenko A; Bizin I; Tumakova A; Guseva M; Sokolova N; Vakhlyarskaya S; Kondratenko I; Imyanitov E
Eur J Med Genet; 2020 Jan; 63(1):103630. PubMed ID: 30772474
[TBL] [Abstract][Full Text] [Related]
57. 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. PubMed ID: 23454770
[TBL] [Abstract][Full Text] [Related]
58. 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]
59. Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N; Platzer M; Rosenthal A; Dörk T; Bendix R; Skawran B; Stuhrmann M; Wegner RD; Sperling K; Banin S; Shiloh Y; Baumer A; Bernthaler U; Sennefelder H; Brohm M; Weber BH; Schindler D
Hum Mol Genet; 1999 Jan; 8(1):69-79. PubMed ID: 9887333
[TBL] [Abstract][Full Text] [Related]
60. [Ataxia telangiectasia. A prototype of neurological involvement in primary immune deficiencies].
Liptai Z
Orv Hetil; 2018 Dec; 159(49):2057-2064. PubMed ID: 30525879
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
