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Toplam kayıt 43, listelenen: 21-30
Characterization Of Two Cases Of Congenital Dyserythropoietic Anemia Type I Shed Light On The Uncharacterized C15Orf41 Protein
(2019)
CDA type I is a rare hereditary anemia, characterized by relative reticulocytopenia, and congenital anomalies. It is caused by biallelic mutations in one of the two genes: (i) CDAN1, encoding Codanin-1, which is implicated ...
The Clinical and Laboratory Evaluation of Familial Hemophagocytic Lymphohistiocytosis and the Importance of Hepatic and Spinal Cord Involvement: A Single Center Experience
(2018)
Familial hemophagocytic lymphohistiocytosis is an autosomal recessive, life-threatening condition characterized by defective immune response. A retrospective analysis was performed on 57 patients diagnosed with familial ...
Mechanism For Survival Of Homozygous Nonsense Mutations In The Tumor Suppressor Gene Brca1
(Natl Acad Sciences, 2018)
BRCA1 is essential for repair of DNA double-strand breaks by homologous recombination, and hence for survival. Complete loss of its function is lethal during early embryonic development. Patients who are compound heterozygous ...
Molecular Approaches To Diagnose Diamond-Blackfan Anemia: The Eurodba Experience
(Elsevier Science Bv, 2018)
Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia and inherited bone marrow failure syndrome that affects approximately seven individuals in every million live births. In addition to anemia, about 50% ...
Spinal Cord Involvement In A Child With Familial Hemophagocytic Lymphohistiocytosis
(2012)
The involvement of the central nervous system (CNS) in familial hemophagocytic lymphohistiocytosis (FHL) has known to be limited to the brain, brain stem, and cerebellum. Herein, we report an 11-year-old boy who presented ...
The European Hematology Association Roadmap for European Hematology Research: A Consensus Document
(Ferrata Storti Foundation, 2016)
The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs ...
Mutations In Signal Recognition Particle Srp54 Cause Syndromic Neutropenia With Shwachman-Diamond-Like Features
(Amer Soc Clinical Investigation Inc, 2017)
Shwachman-Diamond syndrome (SDS) (OMIM # 260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent ...
The Glycocalyx and Trauma: A Review
(Lippincott Williams & Wilkins, 2016)
In the United States trauma is the leading cause of mortality among those under the age of 45, claiming approximately 192,000 lives each year. Significant personal disability, lost productivity, and long-term healthcare ...