BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

300 related articles for article (PubMed ID: 28376382)

  • 21. p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5.
    Singh SA; Goldberg TA; Henson AL; Husain-Krautter S; Nihrane A; Blanc L; Ellis SR; Lipton JM; Liu JM
    PLoS One; 2014; 9(2):e89098. PubMed ID: 24558476
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Clinical features and pathogenic gene detection of Diamond-Blackfan anemia].
    He X; Xu ZL
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Feb; 19(2):171-175. PubMed ID: 28202115
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment.
    Farah RA; Kamel L; Roy N; Proven M; Wray K; Roberts I; Wlodarski MW
    J Pediatr Hematol Oncol; 2020 May; 42(4):e235-e237. PubMed ID: 30933022
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.
    Farrar JE; Dahl N
    Semin Hematol; 2011 Apr; 48(2):124-35. PubMed ID: 21435509
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
    Gripp KW; Curry C; Olney AH; Sandoval C; Fisher J; Chong JX; ; Pilchman L; Sahraoui R; Stabley DL; Sol-Church K
    Am J Med Genet A; 2014 Sep; 164A(9):2240-9. PubMed ID: 24942156
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
    Mirabello L; Khincha PP; Ellis SR; Giri N; Brodie S; Chandrasekharappa SC; Donovan FX; Zhou W; Hicks BD; Boland JF; Yeager M; Jones K; Zhu B; Wang M; Alter BP; Savage SA
    J Med Genet; 2017 Jun; 54(6):417-425. PubMed ID: 28280134
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.
    Crétien A; Proust A; Delaunay J; Rincé P; Leblanc T; Ducrocq R; Simansour M; Marie I; Tamary H; Meerpohl J; Niemeyer C; Gazda H; Sieff C; Ball S; Tchernia G; Mohandas N; Da Costa L
    Am J Hematol; 2010 Feb; 85(2):111-6. PubMed ID: 20054847
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
    Gazda HT; Sheen MR; Vlachos A; Choesmel V; O'Donohue MF; Schneider H; Darras N; Hasman C; Sieff CA; Newburger PE; Ball SE; Niewiadomska E; Matysiak M; Zaucha JM; Glader B; Niemeyer C; Meerpohl JJ; Atsidaftos E; Lipton JM; Gleizes PE; Beggs AH
    Am J Hum Genet; 2008 Dec; 83(6):769-80. PubMed ID: 19061985
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The Use of B-Cell Polysome Profiling to Validate Novel RPL5 (uL18) and RPL26 (uL24) Variants in Diamond-Blackfan Anemia.
    Ludlow A; George N; Glassford M; Udenberg K; Hannibal MC; Schwalm C; Scott K; Rothstein TL; Singh SA
    J Pediatr Hematol Oncol; 2021 Apr; 43(3):e336-e340. PubMed ID: 33122585
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.
    Shi X; Huang X; Zhang Y; Cui X
    BMC Med Genet; 2019 Jul; 20(1):120. PubMed ID: 31277601
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.
    Proust A; Da Costa L; Rince P; Landois A; Tamary H; Zaizov R; Tchernia G; Delaunay J;
    Hematol J; 2003; 4(2):132-6. PubMed ID: 12750732
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Translational efficiency in patients with Diamond-Blackfan anemia.
    Cmejlova J; Dolezalova L; Pospisilova D; Petrtylova K; Petrak J; Cmejla R
    Haematologica; 2006 Nov; 91(11):1456-64. PubMed ID: 17082006
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
    Angelini M; Cannata S; Mercaldo V; Gibello L; Santoro C; Dianzani I; Loreni F
    Hum Mol Genet; 2007 Jul; 16(14):1720-7. PubMed ID: 17517689
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. [Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients].
    Chae H; Park J; Kim M; Lim J; Kim Y; Han K; Lee J; Chung NG; Cho B; Kim HK
    Korean J Lab Med; 2010 Jun; 30(3):249-54. PubMed ID: 20603584
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Disorders of sex development and Diamond-Blackfan anemia: is there an association?
    Hoefele J; Bertrand AM; Stehr M; Leblanc T; Tchernia G; Simansour M; Mignot B; Alberer M; Schwarz HP; Da Costa L;
    Pediatr Nephrol; 2010 Jul; 25(7):1255-61. PubMed ID: 20358230
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.
    Badhai J; Schuster J; Gidlöf O; Dahl N
    PLoS One; 2011 Mar; 6(3):e17672. PubMed ID: 21412415
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.