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

Outcomes of 65 pregnancies in 34 women with 5 different forms of inherited platelet function disorders enrolled in a retrospective and multicentric study, on behalf of eha-swg on thrombocytopenias and platelet function disorders

Autor: Noris, P., Civaschi, E., Catherine Klersy, Melazzini, F., Pujol-Moix, N., Santoro, C., Cattaneo, M., Lavenu-Bombled, C., Bury, L., Minuz, P., Nurden, P., Cid-Haro, A. R., Cuker, A., Latger-Cannard, V., Favier, R., Nichele, I., Balduini, C. L.

Publikováno v: Publons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e2abf07f0112ca9693b17d5a2938767a
http://hdl.handle.net/11573/988434

Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets

Autor: De Candia, E., Bottega, Roberta, Pecci, A., Pujol Moix, N., Heller, P., Noris, P., DE ROCCO, Daniela, Podda, G. M., Balduini, C. L., Savoia, Anna

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8532a750443ffdc3d8b15a86e608e405
https://hdl.handle.net/11368/2625642

Phosphotyrosine proteins in platelets from patients with storage pool disease: direct relation between granule defects and defective signal transduction

Autor: Arderiu, G., Díaz-Ricart, M., Domenech, P., Gines Escolar, Ordinas, A., Pujol-Moix, N.

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Scopus-Elsevier

Background and objectives: storage pool diseases (SPD) are heterogeneous disorders associated with an abnormal presence of intraplatelet granules, which cause mild to moderate bleeding diathesis. We investigated signaling through tyrosine phosphoryla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c0f2c94168c304498389ec867e2f01c8
http://hdl.handle.net/2445/172732

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