Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia

Autor: NORIS, P., KLERSY, C., ZECCA, M., ARCAINI, L., PECCI, A., MELAZZINI, F., TERULLA, V., BOZZI, V., AMBAGLIO, C., PASSAMONTI, F., LOCATELLI, F., BALDUINI, C.L.

Publikováno v: In Journal of Thrombosis and Haemostasis December 2009 7(12):2131-2136

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MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

Autor: Pecci, A, Klersy, C, Gresele, P, Lee, K, De Rocco, D, Bozzi, V, Russo, G, Heller, Pg, Loffredo, G, Ballmaier, M, Fabris, F, Beggiato, E, Kahr, Wha, Pujol-Moix, N, Platokouki, H, Matthijs, G, Noris, P, Yerram, P, Hermans, C, Batzios, S, De Groot, M, Zieger, B, De Candia, E, Fraticelli, V, Kersseboom, R, Piccoli, Gb, Zimmermann, S, Zaninetti, C, Nicchia, E, Baronci, C, Seri, M, Knight, Pj, Balduini, Cl, Savoia, A, Van Geet, C, Geber, B, Economou, M, Fierro, T, Glembotsky, Ac, Vianello, F, Guthner, C.

Publikováno v: Human Mutation, 35(2), 236-247. Wiley
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD is characterized by a considerable variability in clinical evolution: patients present at b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0b3202308793ba3d6d45b4fe01ee6e8
https://research.rug.nl/en/publications/8f687127-8140-4108-abe8-7c14ccda866a

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome

Autor: Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Patrizia Noris, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P, Myh, Italian Registry For -Releated Diseases

Publikováno v: Europe PubMed Central
PloS one 7 (2012). doi:10.1371/journal.pone.0035986
info:cnr-pdr/source/autori:Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P; for the Italian Registry for MYH9-releated diseases/titolo:Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome/doi:10.1371%2Fjournal.pone.0035986/rivista:PloS one/anno:2012/pagina_da:/pagina_a:/intervallo_pagine:/volume:7
PLoS ONE
PLoS ONE, Vol 7, Iss 4, p e35986 (2012)

BACKGROUND: MYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia associated with the risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. Duri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bb1b18abda4787c7f860dc65240b568
http://hdl.handle.net/11562/1064408

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