BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 30816533)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 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; 11(1):159. PubMed ID: 27884168
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
    Alterman N; Fattal-Valevski A; Moyal L; Crawford TO; Lederman HM; Ziv Y; Shiloh Y
    Am J Med Genet A; 2007 Aug; 143A(16):1827-34. PubMed ID: 17632790
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 28123174
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Variant ataxia telangiectasia identified during evaluation for short stature.
    Sokay A; Leahy TR; O'Regan M; O' Grady M
    BMJ Case Rep; 2024 Mar; 17(3):. PubMed ID: 38453233
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing.
    Shiloh Y; Lederman HM
    Ageing Res Rev; 2017 Jan; 33():76-88. PubMed ID: 27181190
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.