BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

383 related articles for article (PubMed ID: 18505428)

  • 1. Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.
    Staples ER; McDermott EM; Reiman A; Byrd PJ; Ritchie S; Taylor AM; Davies EG
    Clin Exp Immunol; 2008 Aug; 153(2):214-20. PubMed ID: 18505428
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.
    Stray-Pedersen A; Jónsson T; Heiberg A; Lindman CR; Widing E; Aaberge IS; Borresen-Dale AL; Abrahamsen TG
    Clin Exp Immunol; 2004 Jul; 137(1):179-86. PubMed ID: 15196260
    [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. Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
    Jacquemin V; Rieunier G; Jacob S; Bellanger D; d'Enghien CD; Laugé A; Stoppa-Lyonnet D; Stern MH
    Eur J Hum Genet; 2012 Mar; 20(3):305-12. PubMed ID: 22071889
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
    Micol R; Ben Slama L; Suarez F; Le Mignot L; Beauté J; Mahlaoui N; Dubois d'Enghien C; Laugé A; Hall J; Couturier J; Vallée L; Delobel B; Rivier F; Nguyen K; Billette de Villemeur T; Stephan JL; Bordigoni P; Bertrand Y; Aladjidi N; Pedespan JM; Thomas C; Pellier I; Koenig M; Hermine O; Picard C; Moshous D; Neven B; Lanternier F; Blanche S; Tardieu M; Debré M; Fischer A; Stoppa-Lyonnet D;
    J Allergy Clin Immunol; 2011 Aug; 128(2):382-9.e1. PubMed ID: 21665257
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
    Reiman A; Srinivasan V; Barone G; Last JI; Wootton LL; Davies EG; Verhagen MM; Willemsen MA; Weemaes CM; Byrd PJ; Izatt L; Easton DF; Thompson DJ; Taylor AM
    Br J Cancer; 2011 Aug; 105(4):586-91. PubMed ID: 21792198
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
    Mitui M; Nahas SA; Du LT; Yang Z; Lai CH; Nakamura K; Arroyo S; Scott S; Purayidom A; Concannon P; Lavin M; Gatti RA
    Hum Mutat; 2009 Jan; 30(1):12-21. PubMed ID: 18634022
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.
    Stewart GS; Last JI; Stankovic T; Haites N; Kidd AM; Byrd PJ; Taylor AM
    J Biol Chem; 2001 Aug; 276(32):30133-41. PubMed ID: 11382771
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
    Mandola AB; Reid B; Sirror R; Brager R; Dent P; Chakroborty P; Bulman DE; Roifman CM
    Front Immunol; 2019; 10():2940. PubMed ID: 31921190
    [TBL] [Abstract][Full Text] [Related]  

  • 12. New mutations in the ATM gene and clinical data of 25 AT patients.
    Demuth I; Dutrannoy V; Marques W; Neitzel H; Schindler D; Dimova PS; Chrzanowska KH; Bojinova V; Gregorek H; Graul-Neumann LM; von Moers A; Schulze I; Nicke M; Bora E; Cankaya T; Oláh É; Kiss C; Bessenyei B; Szakszon K; Gruber-Sedlmayr U; Kroisel PM; Sodia S; Goecke TO; Dörk T; Digweed M; Sperling K; de Sá J; Lourenco CM; Varon R
    Neurogenetics; 2011 Nov; 12(4):273-82. PubMed ID: 21965147
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia.
    Takada S; Weitering TJ; van Os NJH; Du L; Pico-Knijnenburg I; Kuipers TB; Mei H; Salzer E; Willemsen MAAP; Weemaes CMR; Pan-Hammarstrom Q; van der Burg M
    J Allergy Clin Immunol; 2024 May; 153(5):1392-1405. PubMed ID: 38280573
    [TBL] [Abstract][Full Text] [Related]  

  • 14. ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region.
    Pan-Hammarström Q; Dai S; Zhao Y; van Dijk-Härd IF; Gatti RA; Børresen-Dale AL; Hammarström L
    J Immunol; 2003 Apr; 170(7):3707-16. PubMed ID: 12646636
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.
    Soukupova J; Pohlreich P; Seemanova E
    Neuromolecular Med; 2011 Sep; 13(3):204-11. PubMed ID: 21833744
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.
    Birrell GW; Kneebone K; Nefedov M; Nefedova E; Jartsev MN; Mitsui M; Gatti RA; Lavin MF
    Hum Mutat; 2005 Jun; 25(6):593. PubMed ID: 15880721
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Alternative end joining during switch recombination in patients with ataxia-telangiectasia.
    Pan Q; Petit-Frére C; Lähdesmäki A; Gregorek H; Chrzanowska KH; Hammarström L
    Eur J Immunol; 2002 May; 32(5):1300-8. PubMed ID: 11981817
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Defective anti-polysaccharide antibody response in patients with ataxia-telangiectasia.
    Sanal O; Ozbaş-Gerçeker F; Yel L; Ersoy F; Tezcan I; Berkel AI; Metin A; Gatti RA
    Turk J Pediatr; 2004; 46(3):208-13. PubMed ID: 15503472
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Newborn screening for SCID identifies patients with ataxia telangiectasia.
    Mallott J; Kwan A; Church J; Gonzalez-Espinosa D; Lorey F; Tang LF; Sunderam U; Rana S; Srinivasan R; Brenner SE; Puck J
    J Clin Immunol; 2013 Apr; 33(3):540-9. PubMed ID: 23264026
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Ataxia-telangiectasia: a review].
    Bott L; Thumerelle C; Cuvellier JC; Deschildre A; Vallée L; Sardet A
    Arch Pediatr; 2006 Mar; 13(3):293-8. PubMed ID: 16423518
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.