BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 20817924)

  • 1. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
    Walne AJ; Vulliamy T; Beswick R; Kirwan M; Dokal I
    Hum Mol Genet; 2010 Nov; 19(22):4453-61. PubMed ID: 20817924
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rothmund-Thomson syndrome.
    Larizza L; Roversi G; Volpi L
    Orphanet J Rare Dis; 2010 Jan; 5():2. PubMed ID: 20113479
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?
    Rackley S; Pao M; Seratti GF; Giri N; Rasimas JJ; Alter BP; Savage SA
    Psychosomatics; 2012; 53(3):230-5. PubMed ID: 22458992
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CD8
    Zeng T; Lv G; Chen X; Yang L; Zhou L; Dou Y; Tang X; Yang J; An Y; Zhao X
    J Clin Lab Anal; 2020 Sep; 34(9):e23375. PubMed ID: 32452087
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes.
    Gadalla SM; Cawthon R; Giri N; Alter BP; Savage SA
    Aging (Albany NY); 2010 Nov; 2(11):867-74. PubMed ID: 21113082
    [TBL] [Abstract][Full Text] [Related]  

  • 6. p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes.
    Rakotopare J; Toledo F
    Int J Mol Sci; 2023 Oct; 24(19):. PubMed ID: 37834388
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
    Kermasson L; Churikov D; Awad A; Smoom R; Lainey E; Touzot F; Audebert-Bellanger S; Haro S; Roger L; Costa E; Mouf M; Bottero A; Oleastro M; Abdo C; de Villartay JP; Géli V; Tzfati Y; Callebaut I; Danielian S; Soares G; Kannengiesser C; Revy P
    Blood; 2022 Apr; 139(16):2427-2440. PubMed ID: 35007328
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
    Vittal A; Niewisch MR; Bhala S; Kudaravalli P; Rahman F; Hercun J; Kleiner DE; Savage SA; Koh C; Heller T; Giri N
    Hepatology; 2023 Dec; 78(6):1777-1787. PubMed ID: 37184208
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing.
    Khakzad M; Shahbazi Z; Naderi M; Karimipoor M
    Iran Biomed J; 2023 Mar; 27(2 & 3):146-51. PubMed ID: 37070599
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The distribution and accumulation of the shortest telomeres in telomere biology disorders.
    Raj HA; Lai TP; Niewisch MR; Giri N; Wang Y; Spellman SR; Aviv A; Gadalla SM; Savage SA
    Br J Haematol; 2023 Dec; 203(5):820-828. PubMed ID: 37354000
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rothmund-Thomson syndrome, a disorder far from solved.
    Martins DJ; Di Lazzaro Filho R; Bertola DR; Hoch NC
    Front Aging; 2023; 4():1296409. PubMed ID: 38021400
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Beginning at the ends: telomeres and human disease.
    Savage SA
    F1000Res; 2018; 7():. PubMed ID: 29770205
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Biallelic variants in
    Di Lazzaro Filho R; Yamamoto GL; Silva TJ; Rocha LA; Linnenkamp BDW; Castro MAA; Bartholdi D; Schaller A; Leeb T; Kelmann S; Utagawa CY; Steiner CE; Steinmetz L; Honjo RS; Kim CA; Wang L; Abourjaili-Bilodeau R; Campeau PM; Warman M; Passos-Bueno MR; Hoch NC; Bertola DR
    J Med Genet; 2023 Nov; 60(11):1127-1132. PubMed ID: 37055165
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation.
    Huynh TN; Parker R
    J Biol Chem; 2023 Sep; 299(9):105139. PubMed ID: 37544646
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Telomere dysfunction in human diseases: the long and short of it!
    Carroll KA; Ly H
    Int J Clin Exp Pathol; 2009 May; 2(6):528-43. PubMed ID: 19636400
    [TBL] [Abstract][Full Text] [Related]  

  • 16. From clinical findings to the pathomechanism of poikiloderma with neutropenia.
    Larizza L
    Br J Haematol; 2024 Feb; 204(2):395-396. PubMed ID: 37932156
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Proposed Cellular Function of the Human FAM111B Protein and Dysregulation in Fibrosis and Cancer.
    Arowolo A; Malebana M; Sunda F; Rhoda C
    Front Oncol; 2022; 12():932167. PubMed ID: 35860584
    [No Abstract]   [Full Text] [Related]  

  • 18. Clericuzio-type poikiloderma with neutropenia and leg ulceration.
    Al Haddabi A; Mufti G; du Vivier A; Basu TN
    JAAD Case Rep; 2024 Jun; 48():26-29. PubMed ID: 38741660
    [No Abstract]   [Full Text] [Related]  

  • 19. Sm complex assembly and 5' cap trimethylation promote selective processing of snRNAs by the 3' exonuclease TOE1.
    Ma T; Xiong ES; Lardelli RM; Lykke-Andersen J
    Proc Natl Acad Sci U S A; 2024 Jan; 121(3):e2315259121. PubMed ID: 38194449
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.