SEBASTIAN SYNDROME

Known as: Alport syndrome with macrothrombocytopenia, SBS, Myh9-Related Disorder 
 

Topic mentions per year

Topic mentions per year

1960-2018
05101519602018

Papers overview

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2009
2009
BACKGROUND Distinguishing inherited thrombocytopenias from immune thrombocytopenia (ITP) can be difficult, and patients are… (More)
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Highly Cited
2007
Highly Cited
2007
The gene implicated in the May-Hegglin anomaly and related macrothrombocytopenias, MYH9, encodes myosin-IIA, a protein that… (More)
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Highly Cited
2003
Highly Cited
2003
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are autosomal dominant macrothrombocytopenias… (More)
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Highly Cited
2001
Highly Cited
2001
May-Hegglin anomaly (MHA) and Fechtner (FTNS) and Sebastian (SBS) syndromes are autosomal dominant platelet disorders that share… (More)
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2001
2001
Macrothrombocytopenia with leukocyte inclusions is a rare autosomal dominant platelet disorder characterized by a triad of giant… (More)
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Highly Cited
2000
Highly Cited
2000
The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100), Fechtner syndrome (FTNS; MIM 153640) and… (More)
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1998
1998
PURPOSE May-Hegglin anomaly is a rare hereditary condition characterized by the triad of thrombocytopenia, giant platelets, and… (More)
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1990
1990
This report describes a new variant of hereditary macrothrombocytopenia combined with the presence of neutrophil inclusions that… (More)
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1985
1985
This study reports a family comprising four generations in whom nephritis, deafness, congenital cataracts, macrothrombocytopenia… (More)
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1974
1974
 
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