BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

428 related articles for article (PubMed ID: 19535770)

  • 1. Clinical spectrum of ataxia-telangiectasia in adulthood.
    Verhagen MM; Abdo WF; Willemsen MA; Hogervorst FB; Smeets DF; Hiel JA; Brunt ER; van Rijn MA; Majoor Krakauer D; Oldenburg RA; Broeks A; Last JI; van't Veer LJ; Tijssen MA; Dubois AM; Kremer HP; Weemaes CM; Taylor AM; van Deuren M
    Neurology; 2009 Aug; 73(6):430-7. PubMed ID: 19535770
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.
    Toyoshima M; Hara T; Zhang H; Yamamoto T; Akaboshi S; Nanba E; Ohno K; Hori N; Sato K; Takeshita K
    Am J Med Genet; 1998 Jan; 75(2):141-4. PubMed ID: 9450874
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
    Anheim M; Monga B; Fleury M; Charles P; Barbot C; Salih M; Delaunoy JP; Fritsch M; Arning L; Synofzik M; Schöls L; Sequeiros J; Goizet C; Marelli C; Le Ber I; Koht J; Gazulla J; De Bleecker J; Mukhtar M; Drouot N; Ali-Pacha L; Benhassine T; Chbicheb M; M'Zahem A; Hamri A; Chabrol B; Pouget J; Murphy R; Watanabe M; Coutinho P; Tazir M; Durr A; Brice A; Tranchant C; Koenig M
    Brain; 2009 Oct; 132(Pt 10):2688-98. PubMed ID: 19696032
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular pathology of ataxia telangiectasia.
    Taylor AM; Byrd PJ
    J Clin Pathol; 2005 Oct; 58(10):1009-15. PubMed ID: 16189143
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
    Schon K; van Os NJH; Oscroft N; Baxendale H; Scoffings D; Ray J; Suri M; Whitehouse WP; Mehta PR; Everett N; Bottolo L; van de Warrenburg BP; Byrd PJ; Weemaes C; Willemsen MA; Tischkowitz M; Taylor AM; Hensiek AE
    Ann Neurol; 2019 Feb; 85(2):170-180. PubMed ID: 30549301
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Neuropathology in classical and variant ataxia-telangiectasia.
    Verhagen MM; Martin JJ; van Deuren M; Ceuterick-de Groote C; Weemaes CM; Kremer BH; Taylor MA; Willemsen MA; Lammens M
    Neuropathology; 2012 Jun; 32(3):234-44. PubMed ID: 22017321
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
    Méneret A; Ahmar-Beaugendre Y; Rieunier G; Mahlaoui N; Gaymard B; Apartis E; Tranchant C; Rivaud-Péchoux S; Degos B; Benyahia B; Suarez F; Maisonobe T; Koenig M; Durr A; Stern MH; Dubois d'Enghien C; Fischer A; Vidailhet M; Stoppa-Lyonnet D; Grabli D; Anheim M
    Neurology; 2014 Sep; 83(12):1087-95. PubMed ID: 25122203
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Superoxide stress identifies neurons at risk in a model of ataxia-telangiectasia.
    Quick KL; Dugan LL
    Ann Neurol; 2001 May; 49(5):627-35. PubMed ID: 11357953
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic aspects of ataxia-telangiectasia.
    Swift M
    Immunodefic Rev; 1990; 2(1):67-81. PubMed ID: 2196911
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ataxia telangiectasia: report of two cases.
    Huang KY; Shyur SD; Wang CY; Shen EY; Liang DC
    J Microbiol Immunol Infect; 2001 Mar; 34(1):71-5. PubMed ID: 11321131
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Low thymic output and reduced heterogeneity of alpha/beta, but not gamma/delta, T lymphocytes in infants with ataxia-telangiectasia.
    Micheli R; Pirovano S; Calandra G; Valotti M; Plebani A; Albertini A; Imberti L
    Neuropediatrics; 2003 Jun; 34(3):165-7. PubMed ID: 12910443
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 22.