Macrothrombocytopenia

Known as: Macrothrombozytopenia 
 

Topic mentions per year

Topic mentions per year

1978-2017
024619782017

Papers overview

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2016
2016
Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating… (More)
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2015
2015
Mutations in ACTN1, the gene encoding the actin-crosslinking protein α-actinin-1, cause autosomal dominant macrothrombocytopenia… (More)
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2015
2015
OBJECTIVES Harris platelet syndrome (HPS), also known as asymptomatic constitutional macrothrombocytopenia (ACMT), is an… (More)
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2014
2014
This report describes a family with TUBB1-associated macrothrombocytopenia diagnosed based on abnormal platelet β1-tubulin… (More)
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2013
2013
Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite… (More)
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2010
2010
MYH-9 related platelet disorders belong to the group of inherited giant platelet disorders. The MYH-9 gene encodes the non… (More)
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2009
2009
Macrothrombocytopenia is a rare condition where large, circulating platelets ranging between approximately 5 and 20 microm are… (More)
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2008
2008
Mutations in either ABCG5 or ABCG8 cause sitosterolemia, an inborn error of metabolism characterized by high plasma plant sterol… (More)
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2003
2003
BACKGROUND In 1992, a family with hereditary macrothrombocytopenia and progressive sensorineural hearing impairment without renal… (More)
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1992
1992
We report a kindred with hereditary macrothrombocytopenia and progressive sensorineural hearing loss. Although the occurrence of… (More)
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