Results 21 to 30 of about 13,796 (248)

Inherited thrombocytopenias: the beat goes on [PDF]

Blood, 2015
In this issue of Blood, Bottega et al document mutations in ACTN1, which encodes the cytoskeletal protein α-actinin 1, in 10 of 239 consecutive probands with an inherited thrombocytopenia--making ACTN1 an important cause of familial thrombocytopenia.
A. Koneti Rao, Natthapol Songdej
openaire   +2 more sources

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Haematologica, 2016
ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to predispose to hematologic malignancies.
Federica Melazzini, Flavia Palombo, Alessandra Balduini, Daniela De Rocco, Caterina Marconi, Patrizia Noris, Chiara Gnan, Tommaso Pippucci, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Michael Doubek, Christian A. Di Buduo, Katerina Stano Kozubik, Lenka Radova, Giuseppe Loffredo, Sarka Pospisilova, Caterina Alfano, Marco Seri, Carlo L. Balduini, Alessandro Pecci, Anna Savoia   +21 more
doaj   +1 more source

Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children

Haematologica, 2022
Prolonged cytopenias are a non-specific sign with a wide differential diagnosis. Among inherited disorders, cytopenias predisposing to leukemia require a timely and accurate diagnosis to ensure appropriate medical management, including adequate ...
Oded Gilad, Orly Dgany, Sharon Noy-Lotan, Tanya Krasnov, Joanne Yacobovich, Ron Rabinowicz, Tracie Goldberg, Amir A. Kuperman, Abed Abu-Quider, Hagit Miskin, Noa Kapelushnik, Noa Mandel-Shorer, Shai Shimony, Dan Harlev, Tal Ben-Ami, Etai Adam, Carina Levin, Shraga Aviner, Ronit Elhasid, Sivan Berger-Achituv, Lilach Chaitman-Yerushalmi, Yona Kodman, Nino Oniashvilli, Michal Hameiri-Grosman, Shai Izraeli, Hannah Tamary, Orna Steinberg-Shemer   +26 more
doaj   +1 more source

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

Haematologica, 2016
Inherited thrombocytopenias are a heterogeneous group of disorders characterized by abnormally low platelet counts which can be associated with abnormal bleeding.
Ben Johnson, Gillian C. Lowe, Jane Futterer, Marie Lordkipanidzé, David MacDonald, Michael A. Simpson, Isabel Sanchez-Guiú, Sian Drake, Danai Bem, Vincenzo Leo, Sarah J. Fletcher, Ban Dawood, José Rivera, David Allsup, Tina Biss, Paula HB Bolton-Maggs, Peter Collins, Nicola Curry, Charlotte Grimley, Beki James, Mike Makris, Jayashree Motwani, Sue Pavord, Katherine Talks, Jecko Thachil, Jonathan Wilde, Mike Williams, Paul Harrison, Paul Gissen, Stuart Mundell, Andrew Mumford, Martina E. Daly, Steve P. Watson, Neil V. Morgan   +33 more
doaj   +1 more source

“CHildren with Inherited Platelet disorders Surveillance” (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP)

Frontiers in Pediatrics, 2022
BackgroundInherited 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 thrombocytopenia.
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, Giuseppe Palumbo, Giovanna Russo, Paola Saracco, Marco Spinelli, Federico Verzegnassi, Francesca Morga, Anna Savoia, Anna Savoia, Paola Giordano   +22 more
doaj   +1 more source

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

Haematologica, 2012
Background Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIbα, GPIbβ, or GPIX and is typically inherited as a recessive disease. However, some years ago it was shown that the monoallelic c.515C>
Patrizia Noris, Silverio Perrotta, Roberta Bottega, Alessandro Pecci, Federica Melazzini, Elisa Civaschi, Sabina Russo, Silvana Magrin, Giuseppe Loffredo, Veronica Di Salvo, Giovanna Russo, Maddalena Casale, Daniela De Rocco, Claudio Grignani, Marco Cattaneo, Carlo Baronci, Alfredo Dragani, Veronica Albano, Momcilo Jankovic, Saverio Scianguetta, Anna Savoia, Carlo L. Balduini   +21 more
doaj   +1 more source

More than just mild thrombocytopenia: Clinical clues in the diagnosis of germline predisposition to malignancy from a rare ETV6 variant

Clinical Case Reports, 2023
Key Clinical Message In the evaluation of patients with longstanding mild thrombocytopenia, emphasis on family history, genetic testing, and collaborative clinical and laboratory‐based family studies can ensure proper diagnosis and monitoring for ...
Shannon Fang, Juliana Perez Botero, Lisa R. Hackney   +2 more
doaj   +1 more source

Neonatal Alloimmune Thrombocytopenia Detected After Traumatic Delivery: Case Report

Forbes Tıp Dergisi, 2021
Neonatal Alloimmune Thrombocytopenia (NAIT), a complication of maternal alloimmunization against fetal platelets, is the result of immune destruction of platelets due to maternal antibodies in the early period.
Gökhan Kaya, Sema Tanriverdi
doaj   +1 more source

PTPRJ: a novel inherited thrombocytopenia gene. [PDF]

Blood, 2019
In this issue of Blood , Marconi et al use a high-throughput exome-sequencing approach to identify 2 biallelic loss-of-function mutations in PTPRJ that caused autosomal-recessive thrombocytopenia and a bleeding disorder in 2 siblings ...
Wen R, Wang D.
europepmc   +3 more sources

Molecular basis of inherited thrombocytopenias [PDF]

Clinical Genetics, 2015
Inherited thrombocytopenias (IT) are a heterogeneous group of diseases caused by at least 20 different genes. At present, these genes account for approximately 50% of cases, suggesting that novel genes have yet to be identified for a comprehensive understanding of platelet biogenesis defects.
openaire   +8 more sources