about
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndromeThe Shwachman-Diamond SBDS protein localizes to the nucleolusThe human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNASBDS expression and localization at the mitotic spindle in human myeloid progenitorsShwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethalityCurrent diagnosis of inherited bone marrow failure syndromes.Haemocytic periodicity and periodic disorders: periodic neutropenia, thrombocytopenia, lymphocytosis and anaemia.Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia and thrombocytopenia.Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia.Shwachman's syndrome. A review of 21 cases.Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease.The Saccharomyces cerevisiae Hot1p regulated gene YHR087W (HGI1) has a role in translation upon high glucose concentration stressStructural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.Hepatic dysfunction in association with pancreatic insufficiency and cyclical neutropenia. Shwachman-Diamond syndrome.Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period.Exocrine pancreatic disease and the malabsorption syndrome in tropical AfricaDiffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.Psychological characteristics of children with Shwachman syndromePregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequenceLentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potentialIntestinal malabsorption in childhoodAssociation of pancreatic insufficiency and chronic neutropenia in childhood.Shwachman-Diamond syndrome: UK perspectiveClinical spectrum and molecular pathophysiology of Shwachman-Diamond syndromeThe management of chronic or recurrent diarrhoea in childhood.A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child.Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Genetic predispositions to childhood leukemia.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.Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia.Probing the mechanisms underlying human diseases in making ribosomes.Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.Lipomatous pseudohypertrophy of the pancreas associated with chronic pulmonary suppuration in an adult.Intestinal disaccharidase deficiency in children with coeliac disease.A case of shwachman-diamond syndrome distinguished from celiac disease.A zebrafish model for the Shwachman-Diamond syndrome (SDS).
P2860
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P2860
description
1964 nî lūn-bûn
@nan
1964 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1964 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1964年の論文
@ja
1964年論文
@yue
1964年論文
@zh-hant
1964年論文
@zh-hk
1964年論文
@zh-mo
1964年論文
@zh-tw
1964年论文
@wuu
name
CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.
@ast
CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.
@en
type
label
CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.
@ast
CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.
@en
prefLabel
CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.
@ast
CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.
@en
P2093
P1433
P1476
CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.
@en
P2093
P304
P356
10.1111/J.1651-2227.1964.TB07237.X
P577
1964-05-01T00:00:00Z