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Dilated cardiomyopathy in a case of Shwachman-Diamond syndrome
(CAMBRIDGE UNIV PRESS, 2011)
The Shwachman-Diamond syndrome is an autosomal recessive bone marrow failure syndrome with exocrine pancreatic insufficiency. Additional organ systems, such as the liver, heart and bone, may also be affected. We report a ...
Structure, Dynamics, and RNA Interaction Analysis of the Human SBDS Protein
(ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, 2010)
Shwachman-Bodian-Diamond syndrome is an autosomal recessive genetic syndrome with pleiotropic phenotypes, including pancreatic deficiencies, bone marrow dysfunctions with increased risk of myelodysplasia or leukemia, and ...
Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia
(Ferrata Storti FoundationPaviaItália, 2011)
Sdo1p, the yeast orthologue of Shwachman-Bodian-Diamond syndrome protein, binds RNA and interacts with nuclear rRNA-processing factors
(JOHN WILEY & SONS LTD, 2009)
The Shwachman-Bodian-Diamond syndrome protein (SBDS) is a member of a highly conserved protein family of not well understood function, with putative orthologues found in different organisms ranging from Archaea, yeast and ...
The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels
(Elsevier B.V., 2007-12-10)
The Shwachman-Bodian-Diamond syndrome (SDS) is an autosomal disorder with pleiotropic phenotypes including pancreatic, skeletal and bone marrow deficiencies and predisposition to hematological dysfunctions. SDS has been ...