Shwachman syndrome

10/01/2015 - "A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome."
10/01/2015 - "Shwachman-Diamond syndrome is a congenital bone marrow failure disorder characterized by debilitating neutropenia. "
01/01/2012 - "Shwachman-Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome, characterised by neutropenia, exocrine pancreatic dysfunction and often skeletal abnormalities. "
03/01/2008 - "With the identification of the molecular defect in Shwachman-Diamond syndrome (SDS), it is becoming clear that not all SDS patients have the prominent features of neutropenia or pancreatic malabsorption. "
12/01/2003 - "Shwachman-Diamond Syndrome and other less common causes of congenital neutropenia will also be reviewed. "

01/01/2004 - "Studying maturation defects on developing neutrophils in the bone marrow (BM) may be helpful in BM diseases, such as myelodysplastic syndromes and Shwachman-Diamond syndrome. "
04/01/2009 - "The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies."
06/01/2007 - "Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure disorder with cytopenia and a high propensity for myelodysplastic syndrome (MDS) and leukaemia, particularly acute myeloid leukaemia. "
02/01/2004 - "There is a growing interest in the use of granulocytic surface markers for the diagnosis of some inherited and acquired disorders, such as Shwachman-Diamond syndrome and myelodysplastic syndromes. "
10/01/1998 - "Three other children have been previously reported to have myelodysplastic syndrome in association with i(7q); two of them had Shwachman-Diamond syndrome. "

02/01/2005 - "Infections in patients with Shwachman-Diamond syndrome."
10/15/2004 - "Shwachman-Diamond syndrome (SDS) is a genetic disorder characterized by pancreatic hypoplasia, recurrent infection, and bone marrow (BM) dysfunction. "
10/01/2002 - "Shwachman Diamond syndrome (SDS) is a genetic disorder characterized by pancreatic hypoplasia, recurrent infection and bone marrow dysfunction. "
11/01/1996 - "Severe Shwachman-Diamond syndrome and invasive parvovirus B19 infection."
07/01/1984 - "Constant defect in neutrophil locomotion but with age decreasing susceptibility to infection in Shwachman syndrome."

01/01/2010 - "The purpose of this study was to determine whether yeast models for Diamond-Blackfan anemia and Shwachman-Diamond syndrome differed in the mechanism by which ribosome synthesis was affected. "
01/01/2010 - "Conclusions These differences between the yeast Diamond-Blackfan anemia and Shwachman-Diamond syndrome models have implications for signaling mechanisms linking abortive ribosome assembly to cell fate decisions and may contribute to the divergent clinical presentations of Diamond-Blackfan anemia and Shwachman-Diamond syndrome."
01/01/2010 - "Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome."
01/01/2015 - "However, Fanconi anemia, Diamond-Blackfan anemia and Shwachman-Diamond syndrome clustered in the bottom half of the normal range. "
01/01/2012 - "These include congenital anemias such as Diamond Blackfan anemia and Shwachman Diamond syndrome; both of which are associated with mutations in various ribosomal genes. "

01/01/2006 - "Mutations affecting ribosome assembly or function are associated with Diamond-Blackfan anemia, dyskeratosis congenita, and Shwachman-Diamond syndrome. "
10/01/2013 - "Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anaemia (DBA), and Shwachman-Diamond syndrome (SDS) are characterized by the progressive development of bone marrow failure. "
05/01/2008 - "They have also provided important insights into some fundamental biological pathways: DNA repair-FA/BRCA pathway; telomere maintenance- dyskeratosis congenita related genes; ribosome biogenesis-Shwachman Diamond syndrome and Diamond-Blackfan anaemia genes. "
08/01/2015 - "Immune function abnormalities have been reported in patients with Fanconi anemia (FA), dyskeratosis congenita (DC) and, rarely, in Shwachman-Diamond syndrome (SDS), and Diamond-Blackfan anemia (DBA), but large systematic studies are lacking. "
10/01/2015 - "In this section, we describe physical and laboratory findings and management of the major IBMFS: Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and Diamond Blackfan anemia. "