Associated Papers
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
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
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.
Hao S et al.
Cancer Medicine, 2023
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Taha I et al.
Frontiers in Genetics, 2022
Somatic genetic rescue of a germline ribosome assembly defect.
Tan S et al.
Nature Communications, 2021
34413298 (PubMed )
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Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review.
Bou Mitri F et al.
Pediatric Blood & Cancer, 2021
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
Scalais E et al.
American Journal of Medical Genetics. Part A, 2016
Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.
Aalbers AM et al.
British Journal of Haematology, 2013
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.
Donadieu J et al.
Haematologica, 2012
A clinical algorithm predicts hematological complications in Shwachman-Diamond syndrome?
Liu JM
Expert Review of Hematology, 2012
Congenital neutropenia: diagnosis, molecular bases and patient management.
Donadieu J et al.
Orphanet Journal of Rare Diseases, 2011
Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics.
Orelio C et al.
Haematologica, 2009
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.
Kuijpers TW et al.
Blood, 2005
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
Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.
Kuijpers TW et al.
Pediatrics, 2004
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