BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

256 related articles for article (PubMed ID: 32790018)

  • 21. Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
    Da Costa L; Mohandas N; David-NGuyen L; Platon J; Marie I; O'Donohue MF; Leblanc T; Gleizes PE
    Blood Cells Mol Dis; 2024 May; 106():102838. PubMed ID: 38413287
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
    Cmejla R; Cmejlova J; Handrkova H; Petrak J; Pospisilova D
    Hum Mutat; 2007 Dec; 28(12):1178-82. PubMed ID: 17647292
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
    Farrar JE; Nater M; Caywood E; McDevitt MA; Kowalski J; Takemoto CM; Talbot CC; Meltzer P; Esposito D; Beggs AH; Schneider HE; Grabowska A; Ball SE; Niewiadomska E; Sieff CA; Vlachos A; Atsidaftos E; Ellis SR; Lipton JM; Gazda HT; Arceci RJ
    Blood; 2008 Sep; 112(5):1582-92. PubMed ID: 18535205
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
    Smetanina NS; Mersiyanova IV; Kurnikova MA; Ovsyannikova GS; Hachatryan LA; Bobrynina VO; Maschan MA; Novichkova GA; Lipton JM; Maschan AA
    Pediatr Blood Cancer; 2015 Sep; 62(9):1597-600. PubMed ID: 25946618
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders.
    Lipton JM; Ellis SR
    Curr Opin Pediatr; 2010 Feb; 22(1):12-9. PubMed ID: 19915471
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
    Boria I; Garelli E; Gazda HT; Aspesi A; Quarello P; Pavesi E; Ferrante D; Meerpohl JJ; Kartal M; Da Costa L; Proust A; Leblanc T; Simansour M; Dahl N; Fröjmark AS; Pospisilova D; Cmejla R; Beggs AH; Sheen MR; Landowski M; Buros CM; Clinton CM; Dobson LJ; Vlachos A; Atsidaftos E; Lipton JM; Ellis SR; Ramenghi U; Dianzani I
    Hum Mutat; 2010 Dec; 31(12):1269-79. PubMed ID: 20960466
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Diamond-Blackfan anemia, ribosome and erythropoiesis.
    Da Costa L; Moniz H; Simansour M; Tchernia G; Mohandas N; Leblanc T
    Transfus Clin Biol; 2010 Sep; 17(3):112-9. PubMed ID: 20655265
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Animal models of Diamond-Blackfan anemia: updates and challenges.
    Liu YL; Shibuya A; Glader B; Wilkes MC; Barna M; Sakamoto KM
    Haematologica; 2023 May; 108(5):1222-1231. PubMed ID: 36384250
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
    Quarello P; Garelli E; Carando A; Brusco A; Calabrese R; Dufour C; Longoni D; Misuraca A; Vinti L; Aspesi A; Biondini L; Loreni F; Dianzani I; Ramenghi U
    Haematologica; 2010 Feb; 95(2):206-13. PubMed ID: 19773262
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.
    Delaporta P; Sofocleous C; Stiakaki E; Polychronopoulou S; Economou M; Kossiva L; Kostaridou S; Kattamis A
    Pediatr Blood Cancer; 2014 Dec; 61(12):2249-55. PubMed ID: 25132370
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
    Arbiv OA; Cuvelier G; Klaassen RJ; Fernandez CV; Robitaille N; Steele M; Breakey V; Abish S; Wu J; Sinha R; Silva M; Goodyear L; Jardine L; Lipton JH; Corriveau-Bourque C; Brossard J; Michon B; Ghemlas I; Waespe N; Zlateska B; Sung L; Cada M; Dror Y
    Clin Genet; 2018 Feb; 93(2):320-328. PubMed ID: 29044489
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.
    Yazaki M; Kamei M; Ito Y; Konno Y; Wang R; Toki T; Ito E
    J Pediatr Hematol Oncol; 2012 May; 34(4):293-5. PubMed ID: 22510774
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular pathogenesis in Diamond-Blackfan anemia.
    Ito E; Konno Y; Toki T; Terui K
    Int J Hematol; 2010 Oct; 92(3):413-8. PubMed ID: 20882441
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation.
    Ozono S; Mitsuo M; Noguchi M; Nakagawa S; Ueda K; Inada H; Ohga S; Ito E
    Pediatr Int; 2016 Sep; 58(9):930-3. PubMed ID: 27601194
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39. Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.
    Zhang Y; Ear J; Yang Z; Morimoto K; Zhang B; Lin S
    Cell Death Dis; 2014 Jul; 5(7):e1352. PubMed ID: 25058426
    [TBL] [Abstract][Full Text] [Related]  

  • 40. RPS19 mutations in patients with Diamond-Blackfan anemia.
    Campagnoli MF; Ramenghi U; Armiraglio M; Quarello P; Garelli E; Carando A; Avondo F; Pavesi E; Fribourg S; Gleizes PE; Loreni F; Dianzani I
    Hum Mutat; 2008 Jul; 29(7):911-20. PubMed ID: 18412286
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.