BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

61 related articles for article (PubMed ID: 22262766)

  • 1. Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
    Kuramitsu M; Sato-Otsubo A; Morio T; Takagi M; Toki T; Terui K; Wang R; Kanno H; Ohga S; Ohara A; Kojima S; Kitoh T; Goi K; Kudo K; Matsubayashi T; Mizue N; Ozeki M; Masumi A; Momose H; Takizawa K; Mizukami T; Yamaguchi K; Ogawa S; Ito E; Hamaguchi I
    Blood; 2012 Mar; 119(10):2376-84. PubMed ID: 22262766
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
    Landowski M; O'Donohue MF; Buros C; Ghazvinian R; Montel-Lehry N; Vlachos A; Sieff CA; Newburger PE; Niewiadomska E; Matysiak M; Glader B; Atsidaftos E; Lipton JM; Beggs AH; Gleizes PE; Gazda HT
    Hum Genet; 2013 Nov; 132(11):1265-74. PubMed ID: 23812780
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
    Gazda HT; Preti M; Sheen MR; O'Donohue MF; Vlachos A; Davies SM; Kattamis A; Doherty L; Landowski M; Buros C; Ghazvinian R; Sieff CA; Newburger PE; Niewiadomska E; Matysiak M; Glader B; Atsidaftos E; Lipton JM; Gleizes PE; Beggs AH
    Hum Mutat; 2012 Jul; 33(7):1037-44. PubMed ID: 22431104
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.
    Farrar JE; Quarello P; Fisher R; O'Brien KA; Aspesi A; Parrella S; Henson AL; Seidel NE; Atsidaftos E; Prakash S; Bari S; Garelli E; Arceci RJ; Dianzani I; Ramenghi U; Vlachos A; Lipton JM; Bodine DM; Ellis SR
    Am J Hematol; 2014 Oct; 89(10):985-91. PubMed ID: 25042156
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
    Sankaran VG; Ghazvinian R; Do R; Thiru P; Vergilio JA; Beggs AH; Sieff CA; Orkin SH; Nathan DG; Lander ES; Gazda HT
    J Clin Invest; 2012 Jul; 122(7):2439-43. PubMed ID: 22706301
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ribosomal protein L5 facilitates rDNA-bundled condensate and nucleolar assembly.
    Matsumori H; Watanabe K; Tachiwana H; Fujita T; Ito Y; Tokunaga M; Sakata-Sogawa K; Osakada H; Haraguchi T; Awazu A; Ochiai H; Sakata Y; Ochiai K; Toki T; Ito E; Goldberg IG; Tokunaga K; Nakao M; Saitoh N
    Life Sci Alliance; 2022 Jul; 5(7):. PubMed ID: 35321919
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The clinical and laboratory evaluation of patients with suspected hypocellular marrow failure.
    Keel S; Geddis A
    Hematology Am Soc Hematol Educ Program; 2021 Dec; 2021(1):134-142. PubMed ID: 34889426
    [TBL] [Abstract][Full Text] [Related]  

  • 10. M-Sec induced by HTLV-1 mediates an efficient viral transmission.
    Hiyoshi M; Takahashi N; Eltalkhawy YM; Noyori O; Lotfi S; Panaampon J; Okada S; Tanaka Y; Ueno T; Fujisawa JI; Sato Y; Suzuki T; Hasegawa H; Tokunaga M; Satou Y; Yasunaga JI; Matsuoka M; Utsunomiya A; Suzu S
    PLoS Pathog; 2021 Nov; 17(11):e1010126. PubMed ID: 34843591
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ribosomopathies: New Therapeutic Perspectives.
    Orgebin E; Lamoureux F; Isidor B; Charrier C; Ory B; Lézot F; Baud'huin M
    Cells; 2020 Sep; 9(9):. PubMed ID: 32932838
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in
    Gianferante MD; Wlodarski MW; Atsidaftos E; Da Costa L; Delaporta P; Farrar JE; Goldman FD; Hussain M; Kattamis A; Leblanc T; Lipton JM; Niemeyer CM; Pospisilova D; Quarello P; Ramenghi U; Sankaran VG; Vlachos A; Volejnikova J; Alter BP; Savage SA; Giri N
    Haematologica; 2021 May; 106(5):1303-1310. PubMed ID: 32241839
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
    Lauhasurayotin S; Cuvelier GD; Klaassen RJ; Fernandez CV; Pastore YD; Abish S; Rayar M; Steele M; Jardine L; Breakey VR; Brossard J; Sinha R; Silva M; Goodyear L; Lipton JH; Michon B; Corriveau-Bourque C; Sung L; Shabanova I; Li H; Zlateska B; Dhanraj S; Cada M; Scherer SW; Dror Y
    NPJ Genom Med; 2019; 4():30. PubMed ID: 31839986
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing
    Tominaga M; Hamanoue S; Goto H; Saito T; Nagai JI; Masuno M; Umeda Y; Kurosawa K
    Hum Genome Var; 2019; 6():36. PubMed ID: 31645974
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1.
    Rio S; Gastou M; Karboul N; Derman R; Suriyun T; Manceau H; Leblanc T; El Benna J; Schmitt C; Azouzi S; Larghéro J; Karim Z; Macias-Garcia A; Chen JJ; Hermine O; Courtois G; Puy H; Gouya L; Mohandas N; Da Costa L
    Blood; 2019 Mar; 133(12):1358-1370. PubMed ID: 30700418
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia.
    Da Costa L; Narla A; Mohandas N
    F1000Res; 2018; 7():. PubMed ID: 30228860
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

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

    [Next]    [New Search]
    of 4.