Associated Papers
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.
Veltra D et al.
Children (basel, Switzerland), 2024
Defective ribosome assembly in Shwachman-Diamond syndrome.
Wong CC et al.
Blood, 2011
Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.
Yamaguchi M et al.
International Journal of Hematology, 2011
Structure, dynamics, and RNA interaction analysis of the human SBDS protein.
de Oliveira JF et al.
Journal of Molecular Biology, 2010
Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein.
Ng CL et al.
Bmc Structural Biology, 2009
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies.
Maserati E et al.
Genes, Chromosomes & Cancer, 2006
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
Shammas C et al.
The Journal of Biological Chemistry, 2005
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