Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.
about
Inherited bone marrow failure syndromes in adolescents and young adults.Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.The challenging world of cytopenias: distinguishing myelodysplastic syndromes from other disorders of marrow failureMarrow failure: a window into ribosome biologyClinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia RegistryIn Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiologyShwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child.Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.How I manage children with neutropenia.Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation.Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history.Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia.Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia
P2860
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P2860
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Classification of and risk fac ...... th Shwachman-Diamond syndrome.
@ast
Classification of and risk fac ...... th Shwachman-Diamond syndrome.
@en
type
label
Classification of and risk fac ...... th Shwachman-Diamond syndrome.
@ast
Classification of and risk fac ...... th Shwachman-Diamond syndrome.
@en
prefLabel
Classification of and risk fac ...... th Shwachman-Diamond syndrome.
@ast
Classification of and risk fac ...... th Shwachman-Diamond syndrome.
@en
P2093
P2860
P1433
P1476
Classification of and risk fac ...... th Shwachman-Diamond syndrome.
@en
P2093
Alain Morali
Anne Lambilliotte
Associated investigators of the French Severe Chronic Neutropenia Registry*
Blandine Beaupain
Catherine Paillard
Christine Perot
Fanny Fouyssac
Florence Bellanger
Gérard Michel
Jacques Schmitz
P2860
P304
P356
10.3324/HAEMATOL.2011.057489
P577
2012-04-04T00:00:00Z