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Journal Articles

Assessment of MYH9- Related Syndromes among a Series of Patients with Constitutional Macrothrombocytopenia (MT).

Nicole Schlegel, Beatrice Saposnik, Sylvie Binard, Sandrine Elbaz, Odile Fenneteau, Valerie Bardet, Benedicte Gerard, Paquita Nurden, French Ref Center for Inherited Plat Disorders
Journal: Blood
Blood (2006) 108 (11): 700.
https://doi.org/10.1182/blood.V108.11.700.700
Published: 2006
Journal Articles

CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin

Vanja Karamatic Crew, Nicholas Burton, Alexander Kagan, Carole A. Green, Cyril Levene, Frances Flinter, R. Leo Brady, Geoff Daniels, David J. Anstee
Journal: Blood
Blood (2004) 104 (8): 2217–2223.
https://doi.org/10.1182/blood-2004-04-1512
Published: 2004
Journal Articles

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

Samuel Deutsch, Alexandra Rideau, Marie-Luce Bochaton-Piallat, Giuseppe Merla, Antoine Geinoz, Giulio Gabbiani, Torsten Schwede, Thomas Matthes, Stylianos E. Antonarakis, Photis Beris
Journal: Blood
Blood (2003) 102 (2): 529–534.
https://doi.org/10.1182/blood-2002-09-2783
Published: 2003
Journal Articles

Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13

Amos Toren, Galit Rozenfeld-Granot, Bianca Rocca, Charles J. Epstein, Ninette Amariglio, Ferdinando Laghi, Raffaele Landolfi, Frida Brok-Simoni, Lena E. Carlsson, Gideon Rechavi, Andreas Greinacher
Journal: Blood
Blood (2000) 96 (10): 3447–3451.
https://doi.org/10.1182/blood.V96.10.3447
Published: 2000