Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 235,683,302 papers from all fields of science
Search
Sign In
Create Free Account
Macrothrombocytopenia
Known as:
Macrothrombozytopenia
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
1 relation
Glanzmann Thrombasthenia, Autosomal Dominant
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Clinico-hematological profile of inherited macrothrombocytopenia
Iffat Jamal
2020
Corpus ID: 219760199
Inherited macrothrombocytopenia is a common condition. The aim of the review was focussing on different aspects of inherited…
Expand
2019
2019
Sitosterolemia: una causa poco conocida de hipercolesterolemia en la infancia
C. Volpe
,
C. R. Hernández
,
+6 authors
E. C. Ponce
2019
Corpus ID: 208470713
espanolLa sitosterolemia es un trastorno del metabolismo lipidico caracterizado por un aumento de esteroles vegetales…
Expand
2016
2016
PLATELETS AND THROMBOPOIESIS A gain-of-function variant in DIAPH 1 causes dominant macrothrombocytopenia and hearing loss
Simon Stritt
,
P. Nurden
,
+42 authors
A. Mumford
2016
Corpus ID: 6011558
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss Simon Stritt,* Paquita Nurden…
Expand
Review
2016
Review
2016
Top 5 Breed-Associated Hematologic Abnormalities
Heather A Kridel
2016
Corpus ID: 39668897
Hematologic evaluation via CBC—including automated analysis and manual blood smear evaluation—is routine for wellness health…
Expand
2015
2015
A gain-of-function DIAPH1 variant causes dominant macrothrombocytopenia and hearing loss
Simon Stritt
,
P. Nurden
,
+50 authors
A. Mumford
2015
Corpus ID: 55319727
Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterised by enlarged and reduced numbers of circulating…
Expand
2013
2013
Bernard-Soulier syndrome Amelioration of the macrothrombocytopenia associated with the murine
T. Kanaji
,
S. Russell
,
J. Ware
2013
Corpus ID: 90412138
2013
2013
They're not your daddy's inherited platelet disorders anymore
Michele P. Lambert
,
Michele P. Lambert
,
M. Poncz
,
M. Poncz
Journal of Thrombosis and Haemostasis
2013
Corpus ID: 5450702
Although individual inherited platelet disorders (IPDs) are rare, in aggregate – especially when including those IPDs resulting…
Expand
2013
2013
disease and macrothrombocytopenia Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory
W. Stevenson
,
P. Nurden
,
+10 authors
H. Lubna
2013
Corpus ID: 160963178
doi:10.1182/blood-2006-10-055087Prepublished online May 21, 2007;2007 110: 2371-2380€€€€William S. Stevenson, Paquita Nurden…
Expand
2013
2013
Comment on Kanaji et al , page 2732 Sitosterolemia : platelets on high-sterol diet---------------------------------------------------------------------------------------------------- -
H. Falet
2013
Corpus ID: 22384338
S itosterolemia is a rare inherited lipid metabolic disorder characterized by the presence of xanthomas, premature coronary…
Expand
2006
2006
Mediterranean stomatocytosis/macrothrombocytopenia:
G. Stewart
,
J. Lloyd
,
K. Pegel
2006
Corpus ID: 80316153