Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC

Autor: Gresele P, Orsini S, Noris P, Falcinelli E, Alessi MC, Bury L, Borhany M, Santoro C, Glembotsky AC, Cid AR, Tosetto A, De Candia E, Fontana P, Guglielmini G, Pecci A, BAT-VAL study investigators

Publikováno v: Journal of thrombosis and haemostasis : JTH
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Careful assessment of bleeding history is the first step in the evaluation of patients with mild/moderate bleeding disorders, and the use of a bleeding assessment tool (BAT) is strongly encouraged. Although a few studies have assessed the utility of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::8223b0da0323d6bfa7ab6a2687ed9e6e
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=11641

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
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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

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Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Autor: Paula G. Heller, Loredana Bury, Catherine Trichet, Nuria Pujol-Moix, Alessandro Pecci, Fabrizio Fabris, Maria Luigia Randi, Ana C. Glembotsky, Marco Cattaneo, Adam Cuker, Jeanne-Yvonne Borg, Nathalie Trillot, James B. Bussel, Patrizia Noris, E Muniz-Diaz, François Lanza, Lucia Dora Notarangelo, Dominique Martin-Coignard, Anne Bauters, Paolo Gresele, Thomas Lecompte, Catherine Klersy, Sandra Mercier, Giuseppe Loffredo, Marie-Françoise Hurtaud-Roux, Véronique Le Cam Duchez, Emanuela Falcinelli, Nicole Schlegel, Erica De Candia, Dino Veneri, Schéhérazade Benabdallah-Guedira, Fanny Menard, Catherine Pouymayou, Ilaria Nichele, Chloé James, Michela Faleschini, Elisa Civaschi, Caterina Marconi, Roberta Bottega, Tommaso Pippucci, Pierre Sié, Sophie Bayart, Béatrice Saposnik, Daniela De Rocco, Rémi Favier, Françoise Boehlen, Pierre Fontana, Alina Ferster, Anna Savoia, Carlo L. Balduini, Pamela Magini, Bruno Royer, Véronique Latger-Cannard, Alessandra Tucci, Dominique Fleury, Agnes Rigouzzo, Tiziana Fierro, Gian Marco Podda, Emmanuel de Maistre, Silvia Ferrari, Paquita Nurden, Pietro Minuz, Andreas Greinacher, Virginie Siguret, A. M. Mezzasoma

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
HAEMATOLOGICA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Haematologica, Vol. 99, No 8 (2014) pp. 1387-94

Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ee02baeb355d1552e96f4249ac1853e
http://hdl.handle.net/11368/2846527

Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis.

Autor: Kamiya LJ; Hematology Research Division, Institute for Medical Research Alfredo Lanari, School of Medicine, University of Buenos Aires (UBA), Buenos Aires, Argentina., Barozzi S; Medical Department, IRCCS Policlinico San Matteo Foundation, Pavia, Italy., Isidori F; IRCCS University Hospital of Bologna, Bologna, Italy., Ganiewich D; Laboratory of Molecular and Cellular Therapy, Leloir Institute-Institute for Biochemical Research of Buenos Aires (IIBBA), Buenos Aires, Argentina.; Translational Medicine Research Institute (IIMT), Austral University, Buenos Aires, Argentina., De Luca G; Hematology Research Division, Institute for Medical Research Alfredo Lanari, School of Medicine, University of Buenos Aires (UBA), Buenos Aires, Argentina.; Institute for Medical Research (IDIM), UBA-National Scientific and Technical Research Council (CONICET), Buenos Aires, Argentina., Bozzi V; Medical Department, IRCCS Policlinico San Matteo Foundation, Pavia, Italy., Marta RF; Hematology Research Division, Institute for Medical Research Alfredo Lanari, School of Medicine, University of Buenos Aires (UBA), Buenos Aires, Argentina.; Institute for Medical Research (IDIM), UBA-National Scientific and Technical Research Council (CONICET), Buenos Aires, Argentina., Melazzini F; Medical Department, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.; Department of Internal Medicine, University of Pavia, Pavia, Italy., Pippucci T; IRCCS University Hospital of Bologna, Bologna, Italy., Heller PG; Hematology Research Division, Institute for Medical Research Alfredo Lanari, School of Medicine, University of Buenos Aires (UBA), Buenos Aires, Argentina.; Institute for Medical Research (IDIM), UBA-National Scientific and Technical Research Council (CONICET), Buenos Aires, Argentina., Glembotsky AC; Hematology Research Division, Institute for Medical Research Alfredo Lanari, School of Medicine, University of Buenos Aires (UBA), Buenos Aires, Argentina.; Institute for Medical Research (IDIM), UBA-National Scientific and Technical Research Council (CONICET), Buenos Aires, Argentina., Pecci A; Medical Department, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.; Department of Internal Medicine, University of Pavia, Pavia, Italy.

Publikováno v: British journal of haematology [Br J Haematol] 2024 Dec; Vol. 205 (6), pp. 2315-2320. Date of Electronic Publication: 2024 Oct 07.