Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
about
The Shwachman-Diamond SBDS protein localizes to the nucleolusSBDS expression and localization at the mitotic spindle in human myeloid progenitorsThe molecular pathology of primary immunodeficienciesCurrent diagnosis of inherited bone marrow failure syndromes.Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition?Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease.Mutations in SBDS are associated with Shwachman-Diamond syndrome.Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndromeWhen ribosomes go bad: diseases of ribosome biogenesis.Allogeneic hematopoietic stem cell transplantation and the risk for transmission of heritable malignancy.Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy.Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequenceClinical spectrum and molecular pathophysiology of Shwachman-Diamond syndromeShwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child.Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins.Shwachman-Diamond syndrome (SDS) in a preterm neonate.Short stature: an ordinary sign for an unordinary diagnosis.Genetic panels in young patients with bone marrow failure: are they clinically relevant?A zebrafish model for the Shwachman-Diamond syndrome (SDS).Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back.Shwachman-diamond syndrome.
P2860
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P2860
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
description
2001 nî lūn-bûn
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2001 թուականի Մարտին հրատարակուած գիտական յօդուած
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2001 թվականի մարտին հրատարակված գիտական հոդված
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2001年の論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
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2001年论文
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name
Shwachman-Diamond syndrome wit ...... romeric region of chromosome 7
@nl
Shwachman-Diamond syndrome wit ...... omeric region of chromosome 7.
@ast
Shwachman-Diamond syndrome wit ...... omeric region of chromosome 7.
@en
type
label
Shwachman-Diamond syndrome wit ...... romeric region of chromosome 7
@nl
Shwachman-Diamond syndrome wit ...... omeric region of chromosome 7.
@ast
Shwachman-Diamond syndrome wit ...... omeric region of chromosome 7.
@en
prefLabel
Shwachman-Diamond syndrome wit ...... romeric region of chromosome 7
@nl
Shwachman-Diamond syndrome wit ...... omeric region of chromosome 7.
@ast
Shwachman-Diamond syndrome wit ...... omeric region of chromosome 7.
@en
P2093
P2860
P356
P1476
Shwachman-Diamond syndrome wit ...... omeric region of chromosome 7.
@en
P2093
Boocock GR
Ehtesham N
Fujiwara TM
Ginzberg H
P2860
P304
P356
10.1086/319505
P407
P577
2001-03-15T00:00:00Z