How I manage children with Diamond‐Blackfan anaemia

M Bartels, M Bierings - British journal of haematology, 2019 - Wiley Online Library
Diamond‐Blackfan anaemia (DBA) is a rare inherited marrow failure disorder, characterized
by hypoplastic anaemia, congenital anomalies and a predisposition to cancer as a result of …

[HTML][HTML] Diamond Blackfan anemia: genetics, pathogenesis, diagnosis and treatment

G Engidaye, M Melku, B Enawgaw - Ejifcc, 2019 - ncbi.nlm.nih.gov
Abstract Diamond Blackfan Anaemia (DBA) is a sporadic inherited anemia with broad
spectrum of anomalies that are presented soon after delivery. It is inherited mainly in …

Ribosomal protein gene deletions in Diamond-Blackfan anemia

JE Farrar, A Vlachos, E Atsidaftos… - Blood, The Journal …, 2011 - ashpublications.org
Diamond-Blackfan anemia (DBA) is a congenital BM failure syndrome characterized by
hypoproliferative anemia, associated physical abnormalities, and a predisposition to cancer …

Diamond Blackfan anemia: a model for the translational approach to understanding human disease

A Vlachos, L Blanc, JM Lipton - Expert review of hematology, 2014 - Taylor & Francis
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. As with the
other rare inherited bone marrow failure syndromes, the study of these disorders provides …

[HTML][HTML] High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification …

P Quarello, E Garelli, A Brusco, A Carando… - …, 2012 - ncbi.nlm.nih.gov
Diamond-Blackfan anemia is an autosomal dominant disease due to mutations in nine
ribosomal protein encoding genes. Because most mutations are loss of function and …

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia

JE Farrar, N Dahl - Seminars in hematology, 2011 - Elsevier
Diamond Blackfan anemia (DBA) is a lineage-selective inherited bone marrow failure
syndrome characterized primarily by anemia and physical malformations. Recent advances …

Diamond–Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature

D Jahan, MM Al Hasan, M Haque - Journal of Pharmacy and …, 2020 - journals.lww.com
Introduction: Diamond–Blackfan anemia (DBA), one of a rare group of inherited bone
marrow failure syndromes, is characterized by red cell failure, the presence of congenital …

Анемия Даймонда-Блекфана: модель трансляционного подхода к пониманию заболеваний у людей

А Влахос, Л Бланк - Российский журнал детской гематологии и …, 2014 - cyberleninka.ru
Анемия Даймонда-Блекфана (АДБ) является врожденным синдромом костномозговой
недостаточности. Как и в случае с другими редкими врожденными синдромами …

[HTML][HTML] Diamond Blackfan anemia: a model for the translational approach to understanding human disease

A Vlachos, L Blanc, JM Lipton - Russian Journal of Pediatric …, 2015 - journal.nodgo.org
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. As with the
other rare inherited bone marrow failure syndromes, the study of these disorders provides …

Molecular mechanisms of Diamond-Blackfan anemia

H Handrková - 2011 - dspace.cuni.cz
Diamond-Blackfan anemia (DBA) is a rare congenital syndrome that presents with ane-mia
and selective deficiency of erythroid precursors, while other blood lineages are usu-ally …