Zobrazeno 1 - 10
of 277
pro vyhledávání: '"TAR SYNDROME"'
Publikováno v:
Journal of Pediatric Research, Vol 9, Iss 3, Pp 302-306 (2022)
Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital syndrome in which thrombocytopenia and the absence of radius can be accompanied by various organ anomalies. Bilateral phocomelia is the most severe form in this clinic. Thumbs are alw
Externí odkaz:
https://doaj.org/article/f5be2ac4b44940639b36ff14a6d00104
Publikováno v:
Archives of Anesthesia and Critical Care, Vol 8, Iss Supplement (2022)
Bilateral radial dysplasia is a rare condition and usually associated with familial malformation syndromes and spectrum of cardiac anomalies. These patients often require corrective orthopedic surgeries in early age. Radial dysplasia associated with
Externí odkaz:
https://doaj.org/article/9fb911ba66b74c3da8a69682d41016ee
Autor:
Miertuš, Ján a, b, 1, Maltese, Paolo Enrico b, *, 1, Hýblová, Michaela c, Tomková, Erika c, Ďurovčíková, Darina d, Rísová, Vanda e, Bertelli, Matteo b
Publikováno v:
In Journal of Biotechnology 10 March 2020 311:44-48
Akademický článek
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Publikováno v:
BMJ case reports. 14(7)
Thrombocytopenia with absent radii (TAR) syndrome is a rare genetic condition causing absent radial bones and thrombocytopenia. Management is generally supportive although there may be a role for platelet-stimulating agents such as romiplostim. In th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::043b3366e33d23b3043063e740f1318f
https://pubmed.ncbi.nlm.nih.gov/34257121
https://pubmed.ncbi.nlm.nih.gov/34257121
Akademický článek
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Autor:
Yassaee, Vahid R. a, b, ⁎, Hashemi-Gorji, Feyzollah a, 1, Soltani, Ziba a, 1, Poorhosseini, Seyed Mohammad b
Publikováno v:
In Clinical Biochemistry June 2014 47(9):835-839
Autor:
Thierry Leblanc, Aurélie Cabannes-Hamy, Yoann Vial, Alexis Magda, David Beauvais, Nathalie Dhedin, Nicolas Boissel, Wendy Cuccuini, Emmanuelle Clappier
Publikováno v:
Journal of Pediatric Hematology/Oncology. 43:232-235
Thrombocytopenia-absent radius (TAR) syndrome is a rare inherited bone marrow failure syndrome not generally associated with acute leukemia. The authors report a case of T-cell acute lymphoblastic leukemia in an adult female individual newly diagnose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea99e544cdbd73118456540b440da10e
https://doi.org/10.1097/mph.0000000000001919
https://doi.org/10.1097/mph.0000000000001919
Autor:
Michaela Hýblová, Vanda Rísová, Jan Miertus, Darina Ďurovčíková, Erika Tomková, Matteo Bertelli, Paolo Enrico Maltese
Publikováno v:
Journal of Biotechnology. 311:44-48
Rare genetic diseases and syndromes may appear with unique features in some patients. In genetically-solved cases, this situation indicates a phenotypic expansion of the syndrome with additional features (i.e. the disease-associated gene gives rise t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbfc3b9f3340114904119b66c9730eab
https://doi.org/10.1016/j.jbiotec.2020.02.011
https://doi.org/10.1016/j.jbiotec.2020.02.011