178 related articles for article (PubMed ID: 30816533)
21. Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.
Amirifar P; Yazdani R; Moeini Shad T; Ghanadan A; Abolhassani H; Lavin M; Sotoudeh S; Aghamohammadi A
Immunol Invest; 2020 Aug; 49(6):597-610. PubMed ID: 31762358
[TBL] [Abstract][Full Text] [Related]
22. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
Delia D; Piane M; Buscemi G; Savio C; Palmeri S; Lulli P; Carlessi L; Fontanella E; Chessa L
Hum Mol Genet; 2004 Sep; 13(18):2155-63. PubMed ID: 15269180
[TBL] [Abstract][Full Text] [Related]
23. RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia.
Gu C; Wang H; Shu J; Zheng J; Li D; Cai C; Zhang P
Clin Chim Acta; 2021 Dec; 523():6-9. PubMed ID: 34453918
[TBL] [Abstract][Full Text] [Related]
24. [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
Ruiz-Botero F; Rodríguez-Guerrero JT
Rev Chil Pediatr; 2017; 88(4):524-528. PubMed ID: 28898322
[TBL] [Abstract][Full Text] [Related]
25. Ataxia-telangiectasia, an evolving phenotype.
Chun HH; Gatti RA
DNA Repair (Amst); 2004; 3(8-9):1187-96. PubMed ID: 15279807
[TBL] [Abstract][Full Text] [Related]
26. Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.
Chen Z; Ye W; Long Z; Ding D; Peng H; Hou X; Qiu R; Xia K; Tang B; Jiang H
PLoS One; 2015; 10(10):e0139738. PubMed ID: 26439923
[TBL] [Abstract][Full Text] [Related]
27. Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.
Navratil M; Đuranović V; Nogalo B; Švigir A; Dumbović Dubravčić I; Turkalj M
Am J Case Rep; 2015 Sep; 16():631-6. PubMed ID: 26380989
[TBL] [Abstract][Full Text] [Related]
28. Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
van Os NJ; Roeleveld N; Weemaes CM; Jongmans MC; Janssens GO; Taylor AM; Hoogerbrugge N; Willemsen MA
Clin Genet; 2016 Aug; 90(2):105-17. PubMed ID: 26662178
[TBL] [Abstract][Full Text] [Related]
29. Ataxia telangiectasia.
Nissenkorn A; Ben-Zeev B
Handb Clin Neurol; 2015; 132():199-214. PubMed ID: 26564081
[TBL] [Abstract][Full Text] [Related]
30. Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.
Soukupova J; Pohlreich P; Seemanova E
Neuromolecular Med; 2011 Sep; 13(3):204-11. PubMed ID: 21833744
[TBL] [Abstract][Full Text] [Related]
31. A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
Tabatabaiefar MA; Alipour P; Pourahmadiyan A; Fattahi N; Shariati L; Golchin N; Mohammadi-Asl J
J Neurol Sci; 2017 Aug; 379():212-216. PubMed ID: 28716242
[TBL] [Abstract][Full Text] [Related]
32. [Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].
Su Y; Xie J; Yu S; Luo H; Wu W; Xu Z
Zhonghua Er Ke Za Zhi; 2015 Jun; 53(6):431-5. PubMed ID: 26310553
[TBL] [Abstract][Full Text] [Related]
33. Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P; Ranjouri MR; Lavin M; Abolhassani H; Yazdani R; Aghamohammadi A
Expert Rev Clin Immunol; 2020 Sep; 16(9):859-871. PubMed ID: 32791865
[TBL] [Abstract][Full Text] [Related]
34. Molecular defects in Moroccan patients with ataxia-telangiectasia.
Jeddane L; Ailal F; Dubois-d'Enghien C; Abidi O; Benhsaien I; Kili A; Chaouki S; Kriouile Y; El Hafidi N; Fadil H; Abilkassem R; Rada N; Bousfiha AA; Barakat A; Stoppa-Lyonnet D; Bellaoui H
Neuromolecular Med; 2013 Jun; 15(2):288-94. PubMed ID: 23322442
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis.
Mancebo E; Bernardo I; Castro MJ; Fernández-Martinez FJ; Barreiro E; De-Pablos P; Marin MJ; Cortezon S; Paz-Artal E; Allende LM
Prenat Diagn; 2007 Sep; 27(9):861-4. PubMed ID: 17600866
[TBL] [Abstract][Full Text] [Related]
37. Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the
Shimazaki H; Kobayashi J; Sugaya R; Nakano I; Fujimoto S
J Integr Neurosci; 2020 Mar; 19(1):125-129. PubMed ID: 32259893
[TBL] [Abstract][Full Text] [Related]
38. Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.
Levy A; Lang AE
Mov Disord; 2018 Aug; 33(8):1238-1247. PubMed ID: 29436738
[TBL] [Abstract][Full Text] [Related]
39. The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.
Amirifar P; Ranjouri MR; Pashangzadeh S; Lavin M; Yazdani R; Moeini Shad T; Mehrmohamadi M; Salami F; Delavari S; Moamer S; Aghamohammadi A; Akrami SM; Abolhassani H
Pediatr Allergy Immunol; 2021 Aug; 32(6):1316-1326. PubMed ID: 33547824
[TBL] [Abstract][Full Text] [Related]
40. Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
Becker-Catania SG; Chen G; Hwang MJ; Wang Z; Sun X; Sanal O; Bernatowska-Matuszkiewicz E; Chessa L; Lee EY; Gatti RA
Mol Genet Metab; 2000 Jun; 70(2):122-33. PubMed ID: 10873394
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
