416 related articles for article (PubMed ID: 31050087)
1. 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]
2. Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Fiévet A; Bellanger D; Valence S; Mobuchon L; Afenjar A; Giuliano F; Dubois d'Enghien C; Parfait B; Pedespan JM; Auger N; Rieunier G; Collet A; Burglen L; Stoppa-Lyonnet D; Stern MH
Hum Mutat; 2019 Oct; 40(10):1690-1699. PubMed ID: 31033087
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.
Schröder S; Wieland B; Ohlenbusch A; Yigit G; Altmüller J; Boltshauser E; Dörk T; Brockmann K
Am J Med Genet A; 2020 Dec; 182(12):2971-2975. PubMed ID: 32918381
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
Mitui M; Nahas SA; Du LT; Yang Z; Lai CH; Nakamura K; Arroyo S; Scott S; Purayidom A; Concannon P; Lavin M; Gatti RA
Hum Mutat; 2009 Jan; 30(1):12-21. PubMed ID: 18634022
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. New human ATM variants are able to regain ATM functions in ataxia telangiectasia disease.
Ricci A; Biancucci F; Morganti G; Magnani M; Menotta M
Cell Mol Life Sci; 2022 Nov; 79(12):601. PubMed ID: 36422718
[TBL] [Abstract][Full Text] [Related]
16. Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
Worth PF; Srinivasan V; Smith A; Last JI; Wootton LL; Biggs PM; Davies NP; Carney EF; Byrd PJ; Taylor AM
Mov Disord; 2013 Apr; 28(4):524-8. PubMed ID: 23143971
[TBL] [Abstract][Full Text] [Related]
17. Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
Carranza D; Vega AK; Torres-Rusillo S; Montero E; Martinez LJ; Santamaría M; Santos JL; Molina IJ
Neuromolecular Med; 2017 Mar; 19(1):161-174. PubMed ID: 27664052
[TBL] [Abstract][Full Text] [Related]
18. Ataxia telangiectasia syndrome: moonlighting ATM.
Zaki-Dizaji M; Akrami SM; Abolhassani H; Rezaei N; Aghamohammadi A
Expert Rev Clin Immunol; 2017 Dec; 13(12):1155-1172. PubMed ID: 29034753
[TBL] [Abstract][Full Text] [Related]
19. Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.
Menotta M; Biagiotti S; Bianchi M; Chessa L; Magnani M
J Biol Chem; 2012 Nov; 287(49):41352-63. PubMed ID: 23055520
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic Analysis of ATM Protein Kinase in DNA Double-Strand Break Formation and Repair.
Mian E; Wiesmüller L
Methods Mol Biol; 2017; 1599():317-334. PubMed ID: 28477129
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]