BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

311 related articles for article (PubMed ID: 10460451)

  • 1. Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia.
    Hassin-Baer S; Bar-Shira A; Gilad S; Galanty Y; Khosravi R; Lossos A; Giladi N; Weitz R; Ben-Zeev B; Goldhammer Y; Shiloh Y
    J Neurol; 1999 Aug; 246(8):716-9. PubMed ID: 10460451
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
    Nanetti L; Cavalieri S; Pensato V; Erbetta A; Pareyson D; Panzeri M; Zorzi G; Antozzi C; Moroni I; Gellera C; Brusco A; Mariotti C
    Orphanet J Rare Dis; 2013 Aug; 8():123. PubMed ID: 23941260
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
    Verhagen MM; Last JI; Hogervorst FB; Smeets DF; Roeleveld N; Verheijen F; Catsman-Berrevoets CE; Wulffraat NM; Cobben JM; Hiel J; Brunt ER; Peeters EA; Gómez Garcia EB; van der Knaap MS; Lincke CR; Laan LA; Tijssen MA; van Rijn MA; Majoor-Krakauer D; Visser M; van 't Veer LJ; Kleijer WJ; van de Warrenburg BP; Warris A; de Groot IJ; de Groot R; Broeks A; Preijers F; Kremer BH; Weemaes CM; Taylor MA; van Deuren M; Willemsen MA
    Hum Mutat; 2012 Mar; 33(3):561-71. PubMed ID: 22213089
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Ataxia-telangiectasia, an evolving phenotype.
    Chun HH; Gatti RA
    DNA Repair (Amst); 2004; 3(8-9):1187-96. PubMed ID: 15279807
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
    Schoenaker MHD; Van Os NJH; Van der Flier M; Van Deuren M; Seyger MM; Taylor AMR; Weemaes CMR; Willemsen MAAP
    Eur J Med Genet; 2018 May; 61(5):284-287. PubMed ID: 29288088
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Ataxia telangiectasia gene mutations in leukaemia and lymphoma.
    Boultwood J
    J Clin Pathol; 2001 Jul; 54(7):512-6. PubMed ID: 11429421
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
    Laake K; Jansen L; Hahnemann JM; Brondum-Nielsen K; Lönnqvist T; Kääriäinen H; Sankila R; Lähdesmäki A; Hammarström L; Yuen J; Tretli S; Heiberg A; Olsen JH; Tucker M; Kleinerman R; Børresen-Dale AL
    Hum Mutat; 2000 Sep; 16(3):232-46. PubMed ID: 10980530
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. The genetic defect in ataxia-telangiectasia.
    Lavin MF; Shiloh Y
    Annu Rev Immunol; 1997; 15():177-202. PubMed ID: 9143686
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report.
    Zhang L; Jia Y; Qi X; Li M; Wang S; Wang Y
    Childs Nerv Syst; 2020 Apr; 36(4):873-875. PubMed ID: 31691010
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart.
    Shiloh Y
    Annu Rev Genet; 1997; 31():635-62. PubMed ID: 9442910
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.