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International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country

Autor: GLEMBOTSKY, A.C., MARTA, R.F., PECCI, A., DE ROCCO, D., GNAN, C., ESPASANDIN, Y.R., GOETTE, N.P., NEGRO, F., NORIS, P., SAVOIA, A., BALDUINI, C.L., MOLINAS, F.C., HELLER, P.G. ^*

Publikováno v: In Journal of Thrombosis and Haemostasis August 2012 10(8):1653-1661

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

Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia

Autor: GNAN, CHIARA, ARNOLDO, LAURA, FALESCHINI, MICHELA, SGARRA, RICCARDO, MANFIOLETTI, GUIDALBERTO, SAVOIA, ANNA, De Rocco, D.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3dfac8c327aea9dc8ea368c368afc49d
http://hdl.handle.net/11562/1064359

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