Evaluation of the ATM L2307F germline variant in 121 Italian pedigrees with familial myeloproliferative neoplasms.

Autor: Borsani O; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia., Jäger R; Department of Laboratory Medicine, Medical University of Vienna, Vienna., Pietra D; Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia., Flieder I; Department of Laboratory Medicine, Medical University of Vienna, Vienna., Riccaboni G; Department of Molecular Medicine, University of Pavia, Pavia., Kralovics R; Department of Laboratory Medicine, Medical University of Vienna, Vienna., Rumi E; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia. elisarumi@hotmail.com.

Publikováno v: Haematologica [Haematologica] 2024 Aug 01; Vol. 109 (8), pp. 2738-2740. Date of Electronic Publication: 2024 Aug 01.

Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.

Autor: Borsani O; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Pietra D; Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Casetti IC; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Vanni D; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Riccaboni G; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Catricalà S; Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Biology and Biotechnology, University of Pavia, Pavia, Italy., Grazia B; Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Boveri E; Department of Pathology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Arcaini L; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Rumi E; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. Electronic address: elisarumi@hotmail.com.

Publikováno v: Experimental hematology [Exp Hematol] 2024 Jan; Vol. 129, pp. 104127. Date of Electronic Publication: 2023 Nov 07.

The JAK2 V617F mutation in patients with cerebral venous thrombosis

Autor: PASSAMONTI, S.M., BIGUZZI, E., CAZZOLA, M., FRANCHI, F., GIANNIELLO, F., BUCCIARELLI, P., PIETRA, D., MANNUCCI, P.M., MARTINELLI, I. ^*

Publikováno v: In Journal of Thrombosis and Haemostasis June 2012 10(6):998-1003

Co-mutation pattern, clonal hierarchy, and clone size concur to determine disease phenotype of SRSF2 ^P95 -mutated neoplasms.

Autor: Todisco G; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden., Creignou M; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; PO Hematology, Karolinska University Hospital, Stockholm, Sweden., Gallì A; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Guglielmelli P; Center of Research and Innovation of Myeloproliferative Neoplasms, University of Florence, Azienda Ospedaliera Universitaria Careggi, Florence, Italy., Rumi E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Roncador M; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Dana Farber Cancer Institute, Boston, MA, USA., Rizzo E; enGenome srl, Pavia, Italy., Nannya Y; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan., Pietra D; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Elena C; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Bono E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Molteni E; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Rosti V; Center for the Study of Myelofibrosis, Laboratory of Biochemistry, Biotechnology and Advanced Diagnostics, IRCCS Policlinico S. Matteo Foundation, Pavia, Italy., Catricalá S; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Sarchi M; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Dimitriou M; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden., Ungerstedt J; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; PO Hematology, Karolinska University Hospital, Stockholm, Sweden., Vannucchi AM; Center of Research and Innovation of Myeloproliferative Neoplasms, University of Florence, Azienda Ospedaliera Universitaria Careggi, Florence, Italy., Hellström-Lindberg E; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; PO Hematology, Karolinska University Hospital, Stockholm, Sweden., Ogawa S; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.; Institute for the Advanced Study of Human Biology, Kyoto University, Kyoto, Japan., Cazzola M; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Malcovati L; Department of Molecular Medicine, University of Pavia, Pavia, Italy. luca.malcovati@unipv.it.; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. luca.malcovati@unipv.it.

Publikováno v: Leukemia [Leukemia] 2021 Aug; Vol. 35 (8), pp. 2371-2381. Date of Electronic Publication: 2020 Dec 21.

SUN-518 Graves’ Disease Newly Diagnosed in the Setting of Hypokalemic Periodic Paralysis in an HIV+ Patient

Autor: Emily A Japp, Pietra D Greenberg, Sheldon T. Brown, Alan J Cohen, Emily V Nosova

Publikováno v: Journal of the Endocrine Society

Relevance: A rare yet distinct cause of sudden onset paralysis is severe hypokalemia associated with thyrotoxicosis. This is thought to be associated with mutations in genes encoding cellular potassium channels. We report a case of acute onset paraly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e027be67cffcb252d3572aaa88f03cad
https://doi.org/10.1210/jendso/bvaa046.812