المؤلفون: Elodie Laharanne, Aurélie Chauveau, Marina Migeon, Audrey Bidet, Valérie Prouzet-Mauléon, Eric Lippert, Bertille Montibus, Laurent Corcos, Marie Hautin, Chandran Ka

المساهمون: Biothérapies des maladies génétiques et cancers, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), King‘s College London, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Bordeaux [Bordeaux], PODEUR, Sophie

المصدر: British Journal of Haematology
British Journal of Haematology, Wiley, 2020, 190 (2), ⟨10.1111/bjh.16742⟩

مصطلحات موضوعية: [SDV] Life Sciences [q-bio], splicing, [SDV]Life Sciences [q-bio], Mutation (genetic algorithm), RNA splicing, Cancer research, familial thrombocytosis, thrombopoietin, Hematology, Familial thrombocytosis, Biology, ComputingMilieux_MISCELLANEOUS, Thrombopoietin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c64d394f1f7bc9dfac0ef89907527cd
https://doi.org/10.1111/bjh.16742

المؤلفون: Alanoud Alsuhibani, Nahed Aljafn, Ahmed Alsuhaibani, Talal Alharbi, Latefah Aleshaiwi, Mohammed AlBalwi, Naveed Ahmad, Aiman Al-Hazmi, Fatimah Alsumari, Ohoud Alqasim, Mohsen Alzahrani

المصدر: Br J Haematol

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Interquartile range, hemic and lymphatic diseases, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Familial thrombocytosis, Child, Thrombopoietin, Retrospective Studies, Thrombocytosis, Aspirin, Hematology, business.industry, medicine.disease, Thrombosis, 030220 oncology & carcinogenesis, Cohort, Mutation, Female, business, Receptors, Thrombopoietin, 030215 immunology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97f72324bfe52d50b5e6ab2683a3801
https://pubmed.ncbi.nlm.nih.gov/34340263

المؤلفون: Stefan N. Constantinescu, Joaquin Martinez-Lopez, Leila N. Varghese, Elena Sebastián, Alberto Marín-Sánchez, Syonghyun Nam-Cha, Julián Sevilla, Nieves López-Muñoz, Rosa Ayala, Gonzalo Carreño-Tarragona, Eva M. Galvez

المساهمون: UCL - SSS/DDUV/SIGN - Cell signalling, UCL - (SLuc) Service d'hématologie

المصدر: Leukemia, Vol. 35, no. 11, p. 3295-3298 (2021)

مصطلحات موضوعية: Cancer Research, Text mining, Anesthesiology and Pain Medicine, Oncology, business.industry, Lymphoblastic Leukemia, Cancer research, Medicine, Familial thrombocytosis, Hematology, business, Germline

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d030b2f62da0e4d63528e1ec55b0fb88
https://hdl.handle.net/2078.1/244977

المؤلفون: Paola Guglielmelli, Laura Calabresi

المصدر: Cellular and Molecular Aspects of Myeloproliferative Neoplasms-Part A ISBN: 9780323899390

مصطلحات موضوعية: Thrombopoietin receptor, Essential thrombocythemia, food and beverages, Biology, medicine.disease, Erythropoietin receptor, Haematopoiesis, Myeloid stem cell, hemic and lymphatic diseases, medicine, Cancer research, Familial thrombocytosis, Myelofibrosis, Thrombopoietin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cea87deefe6393e8a492a9ca61126ca4
https://doi.org/10.1016/bs.ircmb.2021.09.003

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Yasuhisa Yokoyama, Takayasu Kato, Shigeru Chiba, Yasuhito Nannya, Mamiko Sakata-Yanagimoto, Masayuki Noguchi, Seishi Ogawa, Koichiro Maie, Yoko Yano

المصدر: Annals of Hematology. 97:737-739

مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.medical_specialty, Hematology, business.industry, Amino acid substitution, General Medicine, Germline, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, Mutation (genetic algorithm), medicine, Missense mutation, Familial thrombocytosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dcb2e676cb0eb6ba5fe68e375b58be25
https://doi.org/10.1007/s00277-017-3209-1

المؤلفون: C. Michel Zwaan, Inge M. Appel, Maite E. Houwing, Valerie de Haas, Jan Stary, Susan T.C.J.M. Arentsen-Peters, Marjolein Blink, Andrica C H de Vries, Dirk Reinhardt, Eva A. Koopman-Coenen, Rogier Kersseboom, Saskia L. Gooskens, Marry M. van den Heuvel-Eibrink, Rob Pieters, Rob H. Lopes Cardozo, André Baruchel

المساهمون: Pediatrics, Clinical Genetics

المصدر: International Journal of Hematology, 102(1), 140-143. Springer Japan

مصطلحات موضوعية: Male, Down syndrome, Myeloid, Medizin, Gene mutation, Germline, hemic and lymphatic diseases, Humans, Medicine, Familial thrombocytosis, Germ-Line Mutation, Thrombopoietin, Juvenile myelomonocytic leukemia, business.industry, Infant, Myeloid leukemia, Hematology, medicine.disease, Pedigree, medicine.anatomical_structure, Leukemia, Myeloid, Mutation, Immunology, Cancer research, Female, RNA Splice Sites, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d10dd2fb88c00aa698cdd5e896392b4e
https://pure.eur.nl/en/publications/efb34f52-a946-4b6d-8061-6b74a62a4429

المؤلفون: Ozkan, T., Unlu, A., Cetin, G., Dae, S., Kyio, N.

مصطلحات موضوعية: Ozkan T., Kyio N., Dae S., Cetin G., Unlu A., -FAMILIAL THROMBOCYTOSIS ASSOCIATED WITH JAK2 V617F MUTATION, POSSIBLY AN X-LINKED TRAIT IN DAUGHTER AND MOTHER-, 6th International Eurasian Hematology Congress, Antalya, Türkiye, 14 - 18 Ekim 2015, cilt.39

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______9651::5df7892fc6d0536f871e44a6540512c7
http://hdl.handle.net/20.500.12645/25331

المؤلفون: Robin Foà, Fiorina Giona, Tonia Cenci, Bianca Maria Ricerca, Carlo Rumi, Luciana Teofili, Maurizio Martini, Giuseppe Leone, Luigi Maria Larocca, Lorenza Torti, Vittorio Nunes

المصدر: Haematologica. 95:65-70

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Deep vein, Gastroenterology, Young Adult, Risk Factors, Internal medicine, Serine, medicine, Humans, Familial thrombocytosis, Family history, Child, Aged, Aged, 80 and over, Thrombocytosis, business.industry, Essential thrombocythemia, Infant, Thrombosis, Hematology, Middle Aged, medicine.disease, Pedigree, Settore MED/15 - MALATTIE DEL SANGUE, medicine.anatomical_structure, Amino Acid Substitution, Thrombopoietin, Primary Myelofibrosis, Child, Preschool, Splenomegaly, Immunology, Disease Progression, Budd–Chiari syndrome, Original Article, Female, Asparagine, Splenic disease, business, Receptors, Thrombopoietin, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad818baa1ea3684099ec6a07bcc683f5
https://doi.org/10.3324/haematol.2009.007542

المؤلفون: Gudrun Nürnberg, El-Harith A. El-Harith, Jeannette Hübener, Nils von Neuhoff, Manfred Stuhrmann, Manuela Germeshausen, Hildegard Frye-Boukhriss, Cornelia Roesl, Karl Welte, Matthias Ballmaier, Mirghani Ali Mohamed Ahmed, Jörg Schmidtke, Peter Nürnberg, Christian Becker

المصدر: British Journal of Haematology. 144:185-194

مصطلحات موضوعية: Adult, Male, Heterozygote, Genotype, Genetic Linkage, Consanguinity, Biology, Germline mutation, Genetic linkage, Germany, medicine, Humans, Familial thrombocytosis, Allele, Child, Germ-Line Mutation, Thrombopoietin, Thrombocytosis, Thrombopoietin receptor, Genetics, Platelet Count, Homozygote, Hematology, medicine.disease, Arabs, Pedigree, Case-Control Studies, Child, Preschool, Immunology, Female, Receptors, Thrombopoietin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b0b2e93887cbd1059e19f30f09aa1ba
https://doi.org/10.1111/j.1365-2141.2008.07430.x