Zobrazeno 1 - 10
of 192
pro vyhledávání: '"CONGENITAL THROMBOCYTOPENIA"'
Autor:
Giuseppe Lassandro, Valentina Palladino, Michela Faleschini, Angelica Barone, Gianluca Boscarol, Simone Cesaro, Elena Chiocca, Piero Farruggia, Fiorina Giona, Chiara Gorio, Angela Maggio, Maddalena Marinoni, Antonio Marzollo, Giuseppe Palumbo, Giovanna Russo, Paola Saracco, Marco Spinelli, Federico Verzegnassi, Francesca Morga, Anna Savoia, Paola Giordano
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
AbstractBackgroundInherited thrombocytopenias (ITs) are rare congenital bleeding disorders characterized by different clinical expression and variable prognosis. ITs are poorly known by clinicians and often misdiagnosed with most common forms of thro
Externí odkaz:
https://doaj.org/article/134bacc0158c4a0281db481c045b7b63
Autor:
Rebecca Carter, Anna-Kaisa Niemi
Publikováno v:
Platelets, Vol 33, Iss 4, Pp 649-651 (2022)
Noonan syndrome (NS) is a genetic disorder with distinctive physical features and often multiple organ involvement. Bleeding disorders are reported in over half of patients with NS, including thrombocytopenia and platelet dysfunction. Neonatal alloim
Externí odkaz:
https://doaj.org/article/bcbd079d17434d86808daa87af4bead2
Autor:
Germeshausen, Manuela ∗, Ballmaier, Matthias ∗
Publikováno v:
In Best Practice & Research Clinical Haematology June 2021 34(2)
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
Abstract Background Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from gene
Externí odkaz:
https://doaj.org/article/4aaa8f001bf74caca7f085cd5d4b1625
Akademický článek
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Autor:
Ilaria Amodeo, Genny Raffaeli, Federica Vianello, Giacomo Cavallaro, Valeria Cortesi, Francesca Manzoni, Giacomo S. Amelio, Silvia Gulden, Fabio Mosca, Stefano Ghirardello
Publikováno v:
Children, Vol 8, Iss 10, p 878 (2021)
May–Hegglin anomaly (MHA) is a rare autosomal dominant disorder in the spectrum of myosin heavy chain-related disorders (MYH9-RD), characterized by congenital macrothrombocytopenia and white blood cell inclusions. MHA carries a potential risk of he
Externí odkaz:
https://doaj.org/article/e6925c5aadad4573a3066923f992f4ca
Autor:
Lambert, Michele P.
Publikováno v:
In Transfusion Medicine and Hemostasis Edition: Fourth Edition. 2024:481-487
Autor:
Hatta, Kyoko a, c, ⁎, Kunishima, Shinji b, Suganuma, Hiroki a, Tanaka, Noboru a, Ohkawa, Natsuki a, Shimizu, Toshiaki c
Publikováno v:
In Thrombosis Research October 2015 136(4):813-817
Autor:
Jessica M. Schmit, Daniel J. Turner, Robert A. Hromas, John R. Wingard, Randy A. Brown, Ying Li, Marilyn M. Li, William B. Slayton, Christopher R. Cogle
Publikováno v:
Leukemia Research Reports, Vol 4, Iss 1, Pp 24-27 (2015)
Here we report two new RUNX1 mutations in one patient with congenital thrombocytopenia that transformed into a high grade myelodysplastic syndrome with myelomonocytic features. The first mutation was a nucleotide base substitution from guanine to ade
Externí odkaz:
https://doaj.org/article/e7e90398f7fd46e3850b777a48c9ca9f
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
BMC Medical Genetics
BMC Medical Genetics
Background Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7341faca4ba93e0087271ca23e3ea4d
http://link.springer.com/article/10.1186/s12881-020-01163-2
http://link.springer.com/article/10.1186/s12881-020-01163-2