BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

227 related articles for article (PubMed ID: 26439923)

  • 1. Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.
    Chen Z; Ye W; Long Z; Ding D; Peng H; Hou X; Qiu R; Xia K; Tang B; Jiang H
    PLoS One; 2015; 10(10):e0139738. PubMed ID: 26439923
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 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; 611():112-5. PubMed ID: 26628246
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. [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]  

  • 9. 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]  

  • 10. Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant.
    Bielorai B; Fisher T; Waldman D; Lerenthal Y; Nissenkorn A; Tohami T; Marek D; Amariglio N; Toren A
    Pediatr Hematol Oncol; 2013 Sep; 30(6):574-82. PubMed ID: 23509889
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Clinical variability in ataxia-telangiectasia.
    Lohmann E; Krüger S; Hauser AK; Hanagasi H; Guven G; Erginel-Unaltuna N; Biskup S; Gasser T
    J Neurol; 2015 Jul; 262(7):1724-7. PubMed ID: 25957637
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 452(4):901-5. PubMed ID: 25193705
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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; 371():48-53. PubMed ID: 27871447
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent.
    Das S; Thomas M; Yoganathan S; Muthusamy K; Barney AM; A SSC; Dutta AK; A R; Mohan S; Danda S
    Eur J Med Genet; 2023 Jun; 66(6):104766. PubMed ID: 37075885
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.