191 related articles for article (PubMed ID: 28488180)
1. A new ataxia-telangiectasia mutation in an 11-year-old female.
Mortaz E; Marashian SM; Ghaffaripour H; Varahram M; Mehrian P; Dorudinia A; Garssen J; Adcock IM; Taylor M; Mahdaviani SA
Immunogenetics; 2017 Jul; 69(7):415-419. PubMed ID: 28488180
[TBL] [Abstract][Full Text] [Related]
2. Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM.
Sato D; Moriya K; Nakano T; Miyagawa C; Katayama S; Niizuma H; Sasahara Y; Kure S
Int J Hematol; 2021 Dec; 114(6):735-741. PubMed ID: 34424493
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
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. 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]
9. 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]
10. 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]
11. 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]
12. [Diagnostics of ataxia-telangiectasia by the express-test found on the method of indirect immunofluorescence].
Kuranova ML; Ledashcheva TA; Tulush EK; Beliaev DL; Zherebtsov SV; Pleskach NM; Prokof'eva VV; Mikhel'son VM; Spivak IM
Tsitologiia; 2013; 55(8):560-5. PubMed ID: 25486788
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Mechanisms Underlying the Suppression of Chromosome Rearrangements by Ataxia-Telangiectasia Mutated.
Yamauchi M
Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440406
[TBL] [Abstract][Full Text] [Related]
15. Identification of ATM mutations in Korean siblings with ataxia-telangiectasia.
Huh HJ; Cho KH; Lee JE; Kwon MJ; Ki CS; Lee PH
Ann Lab Med; 2013 May; 33(3):217-20. PubMed ID: 23667852
[TBL] [Abstract][Full Text] [Related]
16. Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer.
Kim YJ; Ahn KS; Kim M; Kim MJ; Park SM; Ryu J; Ahn JS; Heo SY; Kang JH; Choi YJ; Choi SJ; Shim H
Biochem Biophys Res Commun; 2014 Oct; 452(4):901-5. PubMed ID: 25193705
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. 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]
19. Ataxia telangiectasia.
Nissenkorn A; Ben-Zeev B
Handb Clin Neurol; 2015; 132():199-214. PubMed ID: 26564081
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
