Publikationen zur DBA

Autor:  JUlia Dobke, Zuletzt geändert: 22.11.2023 https://kinderblutkrankheiten.de/doi/e274710

Publikationen

  1. Willig TN, Draptchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U, Orfali K, Gustavsson P, Garelli E, Brusco A, Tiemann C, Pérignon JL, Bouchier C, Cicchiello L, Dahl N, Mohandas N, Tchernia G: Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Blood 1999, 94: 4294 [PMID: 10590074] WIL99a
  2. 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: Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Haematologica 2021, 106: 1303 [PMID: 32241839] GIA2021
  3. Miano M, Eikema DJ, de la Fuente J, Bosman P, Ghavamzadeh A, Smiers F, Sengeløv H, Yesilipek A, Formankova R, Bader P, Díaz Pérez MÁ, Bertrand Y, Niemeyer C, Diallo S, Ansari M, Bykova TA, Faraci M, Bonanomi S, Gozdzik J, Satti TM, Bodova I, Wölfl M, Rocha VG, Mellgren K, Rascon J, Holter W, Lange A, Meisel R, Beguin Y, Mozo Y, Kriván G, Sirvent A, Bruno B, Dalle JH, Onofrillo D, Giardino S, Risitano AM, de Latour RP, Dufour C: Stem Cell Transplantation for Diamond-Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT). Transplantation and cellular therapy 2021, 27: 274.e1-274.e5 [PMID: 33781541] MIA2021
  4. Strahm B, Loewecke F, Niemeyer CM, Albert M, Ansari M, Bader P, Bertrand Y, Burkhardt B, Da Costa LM, Ferster A, Fischer A, Güngör T, Gruhn B, Hainmann I, Kapp F, Lang P, Müller I, Schulz A, Szvetnik A, Wlodarski M, Noellke P, Leblanc T, Dalle JH: Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia. Blood advances 2020, 4: 1760 [PMID: 32343795] STR2020a
  5. Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW: Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. European journal of medical genetics 2018, 61: 664 [PMID: 29081386] DAC2018
  6. Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW: Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. Haematologica 2018, 103: 949 [PMID: 29599205] WLO2018
  7. 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: A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. Human mutation 2018, 39: 1102 [PMID: 29766597] ASP2018
  8. Antunes AT, Goos YJ, Pereboom TC, Hermkens D, Wlodarski MW, Da Costa L, MacInnes AW: Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway. PLoS genetics 2015, 11:e1005326 [PMID: 26132763] ANT2015
  9. Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, Niemeyer C, Vichinsky E: Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients. British journal of haematology 2014, 167: 692 [PMID: 25209728] POR2014
  10. 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: Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity. American journal of hematology 2010, 85: 111 [PMID: 20054847] CRE2010d
  11. 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: The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Human mutation 2010, 31: 1269 [PMID: 20960466] BOR2010
  12. Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM, Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference: Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. British journal of haematology 2008, 142: 859 [PMID: 18671700] VLA2008
  13. Göhring G, Karow A, Steinemann D, Wilkens L, Lichter P, Zeidler C, Niemeyer C, Welte K, Schlegelberger B: Chromosomal aberrations in congenital bone marrow failure disorders--an early indicator for leukemogenesis? Annals of hematology 2007, 86: 733 [PMID: 17653548] GOE2007
  14. Gazda, HT, Grabowska A, Merida-Long, LB, Latawiec E, Schneider, HE, Lipton, JM, Vlachos A, Atsidaftos E, Ball, SE, Orfali, KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl, JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan, DG, Beggs, AH, Sieff, CA: Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am.J Hum.Genet 2006, 79: 1110-8. Epub 2006 Nov 2. [PMID: 17186470] GAZ2006
  15. Gazda, HT, Zhong R, Long L, Niewiadomska E, Lipton, JM, Ploszynska A, Zaucha, JM, Vlachos A, Atsidaftos E, Viskochil, DH, Niemeyer, CM, Meerpohl, JJ, Rokicka-Milewska R, Pospisilova D, Wiktor-Jedrzejczak W, Nathan, DG, Beggs, AH, Sieff, CA: RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol 2004, 127: 105 [PMID: 15384984] GAZ2004
  16. Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, Niemeyer C, Chasis, JA, Fixler J, Mohandas, N: Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. Blood 2003, 101: 5039-45. Epub 2003 Feb 13. [PMID: 12586610] DAC2003
  17. Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA: Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23. 3-p22 and for non-19q non-8p disease. Blood 2001, 97: 2145 [PMID: 11264183] GAZ2001