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Items: 1 to 20 of 133

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. doi: 10.1007/s00251-017-0983-9. Epub 2017 May 9.

2.

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. doi: 10.1080/1744666X.2017.1392856. Epub 2017 Oct 20. Review.

PMID:
29034753
3.

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. doi: 10.1007/s12017-013-8240-3. Epub 2013 Jun 27. Erratum in: Neuromolecular Med. 2014 Mar;16(1):216.

4.

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 12;611:112-5. doi: 10.1016/j.neulet.2015.11.036. Epub 2015 Nov 25.

PMID:
26628246
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. doi: 10.1111/pai.13020. Epub 2019 Mar 20. Review.

PMID:
30685876
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 15;379:212-216. doi: 10.1016/j.jns.2017.06.012. Epub 2017 Jun 12.

PMID:
28716242
7.

[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. Russian.

PMID:
25486788
8.

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. doi: 10.3343/alm.2013.33.3.217. Epub 2013 Apr 17.

9.

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. doi: 10.17712/nsj.2018.2.20170463.

PMID:
29664460
10.

Ataxia telangiectasia: a review.

Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM.

Orphanet J Rare Dis. 2016 Nov 25;11(1):159. Review.

11.

A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden.

Campbell A, Krupp B, Bushman J, Noble M, Pröschel C, Mayer-Pröschel M.

Hum Mol Genet. 2015 Nov 15;24(22):6331-49. doi: 10.1093/hmg/ddv342. Epub 2015 Aug 26.

12.

[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. doi: 10.4067/S0370-41062017000400013. Spanish.

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 15;241(1-2):1-6. Epub 2005 Dec 27.

PMID:
16380133
14.

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 3;452(4):901-5. doi: 10.1016/j.bbrc.2014.08.125. Epub 2014 Sep 1.

PMID:
25193705
15.

Ataxia telangiectasia.

Nissenkorn A, Ben-Zeev B.

Handb Clin Neurol. 2015;132:199-214. doi: 10.1016/B978-0-444-62702-5.00014-7. Review.

PMID:
26564081
16.

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.

Roohi J, Crowe J, Loredan D, Anyane-Yeboa K, Mansukhani MM, Omesi L, Levine J, Revah Politi A, Zha S.

J Hum Genet. 2017 Apr;62(5):581-584. doi: 10.1038/jhg.2017.6. Epub 2017 Jan 26.

17.

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. doi: 10.1111/cge.12710. Epub 2016 Jan 20. Review.

PMID:
26662178
18.

The role of ATM and DNA damage in neurons: upstream and downstream connections.

Herrup K, Li J, Chen J.

DNA Repair (Amst). 2013 Aug;12(8):600-4. doi: 10.1016/j.dnarep.2013.04.012. Epub 2013 May 13.

19.

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.

Piane M, Molinaro A, Soresina A, Costa S, Maffeis M, Germani A, Pinelli L, Meschini R, Plebani A, Chessa L, Micheli R.

J Neurol Sci. 2016 Dec 15;371:48-53. doi: 10.1016/j.jns.2016.10.014. Epub 2016 Oct 13.

PMID:
27871447
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. doi: 10.1002/mds.27319. Epub 2018 Feb 13. Review. Erratum in: Mov Disord. 2018 Aug;33(8):1372.

PMID:
29436738

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