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Diamond-Blackfan anemia.
Da Costa L, Willig TN, Fixler J, Mohandas N, Tchernia G. Da Costa L, et al. Curr Opin Pediatr. 2001 Feb;13(1):10-5. doi: 10.1097/00008480-200102000-00002. Curr Opin Pediatr. 2001. PMID: 11176237 Review.
Diamond-Blackfan Anemia (DBA) is a rare, congenital hypoplastic anemia often diagnosed early in infancy. A moderate to severe aregenerative anemia is found in association with erythroblastopenia in an otherwise normocellular bone marrow. ...
Diamond-Blackfan Anemia (DBA) is a rare, congenital hypoplastic anemia often diagnosed early in infancy. A moder …
Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
Li J, Su Y, Chen L, Lin Y, Ru K. Li J, et al. Int J Lab Hematol. 2023 Oct;45(5):766-773. doi: 10.1111/ijlh.14126. Epub 2023 Jun 28. Int J Lab Hematol. 2023. PMID: 37376976 Review.
INTRODUCTION: Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by erythroid aplasia, physical malformation, and cancer predisposition. ...RESULTS: Among the 12 patients, 11 mutations were identified and 5 of them w …
INTRODUCTION: Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by erythroi …
The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis.
Kawashima N, Bezzerri V, Corey SJ. Kawashima N, et al. Biomolecules. 2023 Aug 16;13(8):1249. doi: 10.3390/biom13081249. Biomolecules. 2023. PMID: 37627314 Free PMC article. Review.
Inherited bone marrow failure syndromes (IBMFSs) include Fanconi anemia, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, severe congenital neutropenia, and other rare entities such as GATA2 deficiency and SAMD9/9L mu …
Inherited bone marrow failure syndromes (IBMFSs) include Fanconi anemia, Diamond-Blackfan anemia, Shwachman-D …
Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia.
Lipton JM, Molmenti CLS, Desai P, Lipton A, Ellis SR, Vlachos A. Lipton JM, et al. Genes (Basel). 2021 Dec 26;13(1):56. doi: 10.3390/genes13010056. Genes (Basel). 2021. PMID: 35052397 Free PMC article. Review.
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome, the founding member of a class of disorders known as ribosomopathies. ...Small case series and case reports demonstrate DBA to be a cancer predisposition syndrome. Recent analyses …
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome, the founding member of a class of disor …
Diamond-Blackfan anemia and malignancy. A case report and a review of the literature.
van Dijken PJ, Verwijs W. van Dijken PJ, et al. Cancer. 1995 Aug 1;76(3):517-20. doi: 10.1002/1097-0142(19950801)76:3<517::aid-cncr2820760324>3.0.co;2-8. Cancer. 1995. PMID: 8625135 Review.
BACKGROUND: Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome involving the erythropoietic lineage. ...METHODS: The development of Hodgkin's disease in a 15-year-old boy with DBA, in remission for 13 years after cessation of st …
BACKGROUND: Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome involving the erythropoietic lin …
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M. Bezzerri V, et al. Int J Mol Sci. 2020 Jun 30;21(13):4672. doi: 10.3390/ijms21134672. Int J Mol Sci. 2020. PMID: 32630050 Free PMC article. Review.
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosome biogenesis. The classical IBMFS include Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), Fanco …
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosom …
Peering through zebrafish to understand inherited bone marrow failure syndromes.
Oyarbide U, Topczewski J, Corey SJ. Oyarbide U, et al. Haematologica. 2019 Jan;104(1):13-24. doi: 10.3324/haematol.2018.196105. Epub 2018 Dec 20. Haematologica. 2019. PMID: 30573510 Free PMC article. Review.
Here we review zebrafish as a model organism that phenocopies Fanconi anemia, Diamond-Blackfan anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia, and severe congenital neutropenia. ...
Here we review zebrafish as a model organism that phenocopies Fanconi anemia, Diamond-Blackfan anemia, dyskerato …
Genomic characterization of the inherited bone marrow failure syndromes.
Khincha PP, Savage SA. Khincha PP, et al. Semin Hematol. 2013 Oct;50(4):333-47. doi: 10.1053/j.seminhematol.2013.09.002. Semin Hematol. 2013. PMID: 24246701 Free PMC article. Review.
Highly penetrant germline mutations in key pathways, such as DNA repair, telomere biology, or ribosomal biogenesis, are causative of Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond-Blackfan anemia (DBA), respectively. ...
Highly penetrant germline mutations in key pathways, such as DNA repair, telomere biology, or ribosomal biogenesis, are causative of Fanconi …
Epidemiology of rare anaemias in Europe.
Gulbis B, Eleftheriou A, Angastiniotis M, Ball S, Surrallés J, Castella M, Heimpel H, Hill A, Corrons JL. Gulbis B, et al. Adv Exp Med Biol. 2010;686:375-96. doi: 10.1007/978-90-481-9485-8_22. Adv Exp Med Biol. 2010. PMID: 20824457 Review.
Some other causes of CHA are extremely rare and only few individual cases have been described worldwide (i.e. some RBC enzymopathies). Congenital defects of erythropoiesis are less frequent Diamond-Blackfan Anaemia (DBA) and Fanconi Anaemia (FA) exhibit a ver …
Some other causes of CHA are extremely rare and only few individual cases have been described worldwide (i.e. some RBC enzymopathies). Conge …
Diamond-Blackfan anaemia.
Freedman MH. Freedman MH. Baillieres Best Pract Res Clin Haematol. 2000 Sep;13(3):391-406. doi: 10.1053/beha.2000.0084. Baillieres Best Pract Res Clin Haematol. 2000. PMID: 11030041 Review.
Diamond-Blackfan anaemia (DBA) has had an intellectual allure for decades for clinical and experimental haematologists. ...
Diamond-Blackfan anaemia (DBA) has had an intellectual allure for decades for clinical and experimental haematologists. …
11 results