157 related articles for article (PubMed ID: 31257506)
1. Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene mutation identified in a Chinese pedigree with A‑T.
Chen W; Liu S; Hu H; Chen G; Zhu S; Jia B; Sheng W; Huang G
Mol Med Rep; 2019 Aug; 20(2):1655-1662. PubMed ID: 31257506
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family.
Cao J; Shen R; Zhang W; Mao B; Shi Q; Zhou R; Liu Z; Zeng B; Chen X; Zhang C; Lu M; Han P; Wu J; Zhou A; Tan X
Mol Med Rep; 2019 May; 19(5):3441-3448. PubMed ID: 30816533
[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 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]
7. 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]
8. Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations.
Balta G; Patiroglu T; Gumruk F
J Pediatr Hematol Oncol; 2019 Apr; 41(3):243-246. PubMed ID: 30339652
[TBL] [Abstract][Full Text] [Related]
9. Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
Nakamura K; Du L; Tunuguntla R; Fike F; Cavalieri S; Morio T; Mizutani S; Brusco A; Gatti RA
Hum Mutat; 2012 Jan; 33(1):198-208. PubMed ID: 22006793
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. [Single nucleotide polymorphisms and point mutations of ataxia telangiectasia mutated gene in Chinese of Han ethnicity].
Tang HW; Bian JC; Jiang F; Shen Q; Zhu QX; Zhang HW; Wu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Dec; 21(6):579-82. PubMed ID: 15583986
[TBL] [Abstract][Full Text] [Related]
13. Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.
Jiang H; Tang B; Xia K; Hu Z; Shen L; Tang J; Zhao G; Zhang Y; Cai F; Pan Q; Long Z; Wang G; Dai H
J Neurol Sci; 2006 Feb; 241(1-2):1-6. PubMed ID: 16380133
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.
Ejima Y; Sasaki MS
Hum Genet; 1998 Apr; 102(4):403-8. PubMed ID: 9600235
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene.
Masneri S; Ferraro RM; Lanzi G; Piovani G; Mori L; Barisani C; Moratto D; Plebani A; Badolato R; Soresina A; Giliani S
Stem Cell Res; 2019 Dec; 41():101596. PubMed ID: 31669783
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]