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Page 1
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
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. Gianferante MD, et al. Among authors: pospisilova d. Haematologica. 2021 May 1;106(5):1303-1310. doi: 10.3324/haematol.2020.246629. Haematologica. 2021. PMID: 32241839 Free PMC article.
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. Boria I, et al. Among authors: pospisilova d. Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383. Hum Mutat. 2010. PMID: 20960466 Free PMC article.
The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis.
Lonetti A, Indio V, Dianzani I, Ramenghi U, Da Costa L, Pospíšilová D, Migliaccio AR. Lonetti A, et al. Among authors: pospisilova d. Front Physiol. 2021 Oct 13;12:745032. doi: 10.3389/fphys.2021.745032. eCollection 2021. Front Physiol. 2021. PMID: 34721069 Free PMC article.
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
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. Gazda HT, et al. Among authors: pospisilova d. Br J Haematol. 2004 Oct;127(1):105-13. doi: 10.1111/j.1365-2141.2004.05152.x. Br J Haematol. 2004. PMID: 15384984 Free article.
Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.
Nováková M, Žaliová M, Suková M, Wlodarski M, Janda A, Froňková E, Campr V, Lejhancová K, Zapletal O, Pospíšilová D, Černá Z, Kuhn T, Švec P, Pelková V, Zemanová Z, Kerndrup G, van den Heuvel-Eibrink M, van der Velden V, Niemeyer C, Kalina T, Trka J, Starý J, Hrušák O, Mejstříková E. Nováková M, et al. Among authors: pospisilova d. Haematologica. 2016 Jun;101(6):707-16. doi: 10.3324/haematol.2015.137711. Epub 2016 Mar 24. Haematologica. 2016. PMID: 27013649 Free PMC article.
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.
Volejnikova J, Vojta P, Urbankova H, Mojzíkova R, Horvathova M, Hochova I, Cermak J, Blatny J, Sukova M, Bubanska E, Feketeova J, Prochazkova D, Horakova J, Hajduch M, Pospisilova D. Volejnikova J, et al. Among authors: pospisilova d. Blood Cells Mol Dis. 2020 Mar;81:102380. doi: 10.1016/j.bcmd.2019.102380. Epub 2019 Nov 11. Blood Cells Mol Dis. 2020. PMID: 31855845
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.
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. Gazda H, et al. Among authors: pospisilova d. Blood. 2001 Apr 1;97(7):2145-50. doi: 10.1182/blood.v97.7.2145. Blood. 2001. PMID: 11264183 Free article.
Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress.
Kubickova A, Maceckova Z, Vojta P, Ondra M, Volejnikova J, Koralkova P, Jungova A, Jahoda O, Mojzikova R, Hadacova I, Cermak J, Horvathova M, Pospisilova D, Hajduch M. Kubickova A, et al. Among authors: pospisilova d. Blood Cells Mol Dis. 2022 Nov;97:102690. doi: 10.1016/j.bcmd.2022.102690. Epub 2022 Jul 6. Blood Cells Mol Dis. 2022. PMID: 35871033
108 results