Results 101 to 110 of about 3,635 (200)

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Inherited macrothrombocytopenia with distinctive platelet ultrastructural and functional features

, 2000
We report a family with inherited macrothrombocytopenia and characteristic large membrane complexes in the platelets. Two affected subjects had platelet counts of 40 and 65 x 10(9)/L respectively as assessed by contrast phase microscopy.
Maggiano, Nicola Giuseppe, De Cristofaro, Raimondo, Rocca, Bianca   +2 more
core   +2 more sources

Disrupted filamin A/αIIbβ3 interaction induces macrothrombocytopenia by increasing RhoA activity

, 2019
International audienceAbstract Filamin A (FLNa) links the cell membrane with the cytoskeleton and is central in several cellular processes. Heterozygous mutations in the X-linked FLNA gene are associated with a large spectrum of conditions, including ...
Tosca, Lucie, Baschieri, Francesco, Balayn, Nathalie, Plo, Isabelle, Favier, Rémi, Donada, Alessandro, Goizet, Cyril, Ceglia, Valentina, Lordier, Larissa, Bryckaert, Marijke, Tachdjian, Gérard, Vainchenker, William, Sliwa, Dominika, Rosa, Jean-Philippe, Debili, Najet, Denis, Cecile, Raslova, Hana   +16 more
core   +1 more source

Comparison of Manual and Automated Methods for Determining Platelet Counts in Dogs with Macrothrombocytopenia

, 2004
Platelet counts were performed in 43 Cavalier King Charles Spaniels (CKCS, a breed predisposed to macrothrombocytopenia) and in 10 control dogs using 3 automated systems and 3 manual methods (erythrocytelysing agents + counting chamber or evaluation of ...
Pedersen, Henrik D., Henrik D. Pedersen, Lisbeth H. Olsen, Olsen, Lisbeth H., Kristensen, Annemarie T., Karen Qvortrup, Annemarie T. Kristensen, Qvortrup, Karen   +7 more
core   +1 more source

Congenital macrothrombocytopenia- A case report

, 2015
Case report: A 23 year old previously healthy sailor was evaluated for isolated thrombocytopenia. He did not have any bleeding manifestations. His physical examination was unremarkable.
Sooriyakumar, T., Kumanan, T., Seneviratne, T.S.P.   +2 more
core  

An unusual cause of renal failure; Epstein syndrome [PDF]

Journal of Nephropharmacology, 2016
Epstein syndrome constitutes macrothrombocytopenia without neutrophil inclusion bodies along with deafness and renal failure. A diagnosis of Epstein syndrome was made in a 17 year-old-male patient with macrothrombopathic thrombocytopenia, renal failure ...
Balwani Manish R, Engineer Divyesh P, Gumber Manoj R, Kute Vivek B, Singh Rajesh, Patel Himanshu V, Vanikar Aruna V, Gera Dinesh, Shah Pankaj R, Trivedi Hargovind L   +9 more
doaj  

MYH9‐related disease: Assessment of the pathogenicity of a new mutation

eJHaem, 2023
Babuty Antoine, Pierre Boisseau, Nicolas Drillaud, Marion Eveillard, Marc Fouassier   +4 more
doaj   +1 more source

Megakaryocyte-specific RhoA deficiency causes macrothrombocytopenia and defective platelet activation in hemostasis and thrombosis

, 2011
Vascular injury initiates rapid platelet activation that is critical for hemostasis, but it also may cause thrombotic diseases, such as myocardial infarction or ischemic stroke.
Lidija Chakarova, Ina Hagedorn, Chakarova, Lidija, Kleinschnitz, Christoph, Offermanns, Stefan, Irina Pleines, Stefan Offermanns, Cord Brakebusch, May, Frauke, Christoph Kleinschnitz, Bernhard Nieswandt, Brakebusch, Cord, Frauke May, Pleines, Irina, Nieswandt, Bernhard, Hagedorn, Ina, Georg Krohne, van Hengel, Jolanda, Shuchi Gupta, Jolanda van Hengel, Krohne, Georg, Gupta, Shuchi   +21 more
core   +1 more source

Successful Kidney Transplantation in MYH-9-Related Disease Presenting with Severe Macrothrombocytopenia

Turkish Journal of Hematology, 2023
Mustafa Cem Bülbül, Şahin Avcı, Berna Yelken, Burak Koçak, Olga Meltem Akay   +4 more
doaj   +1 more source

Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13

, 1999
SummaryFechtner syndrome is an autosomal-dominant variant of Alport syndrome, manifested by nephritis, sensorineural hearing loss, cataract formation, macrothrombocytopenia, and polymorphonuclear inclusion bodies.
Amariglio, Ninette, Brok-Simoni, Frida, Toren, Amos, Rozenfeld-Granot, Galit, Simon, Amos J., Pras, Elon, Rechavi, Gideon   +6 more
core   +1 more source