158 related articles for article (PubMed ID: 33547824)
1. 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]
2. Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients.
Amirifar P; Mozdarani H; Yazdani R; Kiaei F; Moeini Shad T; Shahkarami S; Abolhassani H; Delavari S; Sohani M; Rezaei A; Hassanpour G; Akrami SM; Aghamohammadi A
Immunol Invest; 2021 Feb; 50(2-3):201-215. PubMed ID: 32116070
[No Abstract] [Full Text] [Related]
3. 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]
4. Genotype-phenotype correlations in ataxia telangiectasia patients with
van Os NJH; Chessa L; Weemaes CMR; van Deuren M; Fiévet A; van Gaalen J; Mahlaoui N; Roeleveld N; Schrader C; Schindler D; Taylor AMR; Van de Warrenburg BPC; Dörk T; Willemsen MAAP
J Med Genet; 2019 May; 56(5):308-316. PubMed ID: 30819809
[TBL] [Abstract][Full Text] [Related]
5. Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
Martin-Rodriguez S; Calvo-Ferrer A; Ortega-Unanue N; Samaniego-Jimenez L; Sanz-Izquierdo MP; Bernardo-Gonzalez I
Ann Hum Genet; 2019 Jul; 83(4):266-273. PubMed ID: 30888062
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.
Huang Y; Yang L; Wang J; Yang F; Xiao Y; Xia R; Yuan X; Yan M
Neuromolecular Med; 2013 Sep; 15(3):536-40. PubMed ID: 23807571
[TBL] [Abstract][Full Text] [Related]
8. Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.
Blanchard-Rohner G; Peirolo A; Coulon L; Korff C; Horvath J; Burkhard PR; Gumy-Pause F; Ranza E; Jandus P; Dibra H; Taylor AMR; Fluss J
Front Immunol; 2022; 13():791522. PubMed ID: 35154108
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. Next-generation sequencing reveals a novel pathogenic variant in the
Pourahmadiyan A; Alipour P; Golchin N; Tabatabaiefar MA
Int J Neurosci; 2022 Jun; 132(6):558-562. PubMed ID: 32962506
[TBL] [Abstract][Full Text] [Related]
14. Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients.
Amirifar P; Mehrmohamadi M; Ranjouri MR; Akrami SM; Rezaei N; Saberi A; Yazdani R; Abolhassani H; Aghamohammadi A
J Clin Immunol; 2022 Jan; 42(1):72-84. PubMed ID: 34628594
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype relationships in ataxia-telangiectasia and variants.
Gilad S; Chessa L; Khosravi R; Russell P; Galanty Y; Piane M; Gatti RA; Jorgensen TJ; Shiloh Y; Bar-Shira A
Am J Hum Genet; 1998 Mar; 62(3):551-61. PubMed ID: 9497252
[TBL] [Abstract][Full Text] [Related]
16. Novel ATM mutations with ataxia-telangiectasia.
Liu XL; Wang T; Huang XJ; Zhou HY; Luan XH; Shen JY; Chen SD; Cao L
Neurosci Lett; 2016 Jan; 611():112-5. PubMed ID: 26628246
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.
Cirillo E; Polizzi A; Soresina A; Prencipe R; Giardino G; Cancrini C; Finocchi A; Rivalta B; Dellepiane RM; Baselli LA; Montin D; Trizzino A; Consolini R; Azzari C; Ricci S; Lodi L; Quinti I; Milito C; Leonardi L; Duse M; Carrabba M; Fabio G; Bertolini P; Coccia P; D'Alba I; Pession A; Conti F; Zecca M; Lunardi C; Bianco ML; Presti S; Sciuto L; Micheli R; Bruzzese D; Lougaris V; Badolato R; Plebani A; Chessa L; Pignata C
J Clin Immunol; 2022 May; 42(4):783-797. PubMed ID: 35257272
[TBL] [Abstract][Full Text] [Related]
19. Newborn screening for SCID identifies patients with ataxia telangiectasia.
Mallott J; Kwan A; Church J; Gonzalez-Espinosa D; Lorey F; Tang LF; Sunderam U; Rana S; Srinivasan R; Brenner SE; Puck J
J Clin Immunol; 2013 Apr; 33(3):540-9. PubMed ID: 23264026
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
