BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 28376382)

  • 1. Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
    Errichiello E; Vetro A; Mina T; Wischmeijer A; Berrino E; Carella M; Romagnoli M; Sacchini P; Venesio T; Zecca M; Zuffardi O
    Blood Cells Mol Dis; 2017 May; 64():38-44. PubMed ID: 28376382
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
    Aspesi A; Betti M; Sculco M; Actis C; Olgasi C; Wlodarski MW; Vlachos A; Lipton JM; Ramenghi U; Santoro C; Follenzi A; Ellis SR; Dianzani I
    Hum Mutat; 2018 Aug; 39(8):1102-1111. PubMed ID: 29766597
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia.
    Debnath S; Jaako P; Siva K; Rothe M; Chen J; Dahl M; Gaspar HB; Flygare J; Schambach A; Karlsson S
    Mol Ther; 2017 Aug; 25(8):1805-1814. PubMed ID: 28434866
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The Genetic Landscape of Diamond-Blackfan Anemia.
    Ulirsch JC; Verboon JM; Kazerounian S; Guo MH; Yuan D; Ludwig LS; Handsaker RE; Abdulhay NJ; Fiorini C; Genovese G; Lim ET; Cheng A; Cummings BB; Chao KR; Beggs AH; Genetti CA; Sieff CA; Newburger PE; Niewiadomska E; Matysiak M; Vlachos A; Lipton JM; Atsidaftos E; Glader B; Narla A; Gleizes PE; O'Donohue MF; Montel-Lehry N; Amor DJ; McCarroll SA; O'Donnell-Luria AH; Gupta N; Gabriel SB; MacArthur DG; Lander ES; Lek M; Da Costa L; Nathan DG; Korostelev AA; Do R; Sankaran VG; Gazda HT
    Am J Hum Genet; 2018 Dec; 103(6):930-947. PubMed ID: 30503522
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Utility of Whole Exome Sequencing in the Early Diagnosis of Atypical Diamond-Blackfan Anemia.
    Al-Mulla A; Austin F; Helou M
    J Pediatr Hematol Oncol; 2023 Apr; 45(3):159-161. PubMed ID: 36706306
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.
    Dorenkamp M; Porret N; Diepold M; Rovó A
    Medicina (Kaunas); 2023 Nov; 59(11):. PubMed ID: 38004002
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Probable digenic inheritance of Diamond-Blackfan anemia.
    Furuta Y; Tinker RJ; Gulsevin A; Neumann SM; Hamid R; Cogan JD; Rives L; Liu Q; Chen HC; Joos KM; Phillips JA;
    Am J Med Genet A; 2024 Mar; 194(3):e63454. PubMed ID: 37897121
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
    Li J; Su Y; Chen L; Lin Y; Ru K
    Int J Lab Hematol; 2023 Oct; 45(5):766-773. PubMed ID: 37376976
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Transcriptome analysis of the zebrafish model of Diamond-Blackfan anemia from RPS19 deficiency via p53-dependent and -independent pathways.
    Jia Q; Zhang Q; Zhang Z; Wang Y; Zhang W; Zhou Y; Wan Y; Cheng T; Zhu X; Fang X; Yuan W; Jia H
    PLoS One; 2013; 8(8):e71782. PubMed ID: 23990987
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
    Avondo F; Roncaglia P; Crescenzio N; Krmac H; Garelli E; Armiraglio M; Castagnoli C; Campagnoli MF; Ramenghi U; Gustincich S; Santoro C; Dianzani I
    BMC Genomics; 2009 Sep; 10():442. PubMed ID: 19765279
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Normal Erythroid Precursors in Diamond-Blackfan Anemia: A Rare Case Highlighting Challenges That Remain.
    Prior D; Sowa A; Pashankar F
    J Pediatr Hematol Oncol; 2024 Mar; 46(2):e195-e198. PubMed ID: 38277626
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Targeting elevated heme levels to treat a mouse model for Diamond-Blackfan Anemia.
    Sjögren SE; Chen J; Mattebo A; Alattar AG; Karlsson H; Siva K; Soneji S; Tedgård U; Chen JJ; Gram M; Flygare J
    Exp Hematol; 2022 Jan; 105():50-61. PubMed ID: 34757171
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
    Tsangaris E; Klaassen R; Fernandez CV; Yanofsky R; Shereck E; Champagne J; Silva M; Lipton JH; Brossard J; Michon B; Abish S; Steele M; Ali K; Dower N; Athale U; Jardine L; Hand JP; Odame I; Canning P; Allen C; Carcao M; Beyene J; Roifman CM; Dror Y
    J Med Genet; 2011 Sep; 48(9):618-28. PubMed ID: 21659346
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia.
    Wan Y; Zhang Q; Zhang Z; Song B; Wang X; Zhang Y; Jia Q; Cheng T; Zhu X; Leung AY; Yuan W; Jia H; Fang X
    BMC Med Genomics; 2016 Mar; 9():13. PubMed ID: 26961822
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diamond-Blackfan anemia.
    Da Costa L; Leblanc T; Mohandas N
    Blood; 2020 Sep; 136(11):1262-1273. PubMed ID: 32702755
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Monolobated megakaryocytes in Diamond-Blackfan anemia with RPL5 mutation at disease presentation mimicking myelodysplastic syndrome.
    Setiadi A; Singh C; Li A; Au N; Amid A
    Pediatr Blood Cancer; 2024 Feb; 71(2):e30771. PubMed ID: 37988264
    [No Abstract]   [Full Text] [Related]  

  • 17. Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia.
    An K; Zhou JB; Xiong Y; Han W; Wang T; Ye ZQ; Wu YD
    Front Genet; 2021; 12():650897. PubMed ID: 34108988
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review.
    Moisa SM; Spoiala EL; Trandafir LM; Butnariu LI; Miron IC; Ciobanu A; Mocanu A; Ivanov A; Ciongradi CI; Sarbu I; Ciubara A; Rusu CD; Luca AC; Burlacu A
    Medicina (Kaunas); 2023 Feb; 59(2):. PubMed ID: 36837563
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Impaired cellular and humoral immunity is a feature of Diamond-Blackfan anaemia; experience of 107 unselected cases in the United Kingdom.
    Iskander D; Roberts I; Rees C; Szydlo R; Alikian M; Neale M; Harrington Y; Kelleher P; Karadimitris A; de la Fuente J
    Br J Haematol; 2019 Jul; 186(2):321-326. PubMed ID: 30980390
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Establishment and characterization of CSCRi006-A: an induced pluripotent stem cell line generated from a patient with Diamond-Blackfan Anemia (DBA) carrying ribosomal protein S19 (RPS19) mutation.
    Rani S; Thamodaran V; Nandy K; Fouzia NA; Maddali M; Rajesh P; Vijayanand S; David E; Velayudhan SR
    Hum Cell; 2023 Nov; 36(6):2204-2213. PubMed ID: 37603219
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.