Zobrazeno 1 - 10
of 45
pro vyhledávání: '"hereditary connective tissue disorders"'
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 04, Pp 06-08 (2024)
Ehlers-Danlos syndrome comprises 13 hereditary connective tissue disorders associated with skin hyperelasticity, joint hypermobility, atrophic scarring, and blood vessel fragility. Hypermobile EDS, the most common subtype, has no clear genetic or mol
Externí odkaz:
https://doaj.org/article/5e17bb5bba904868a60a909959dda1f8
Autor:
Leone, Maria Pia, Morlino, Silvia, Nardella, Grazia, Pracella, Riccardo, Giachino, Daniela, Celli, Luca, Baldo, Demetrio, Turolla, Licia, Piccione, Maria, Salzano, Emanuela, Busè, Martina, Lastella, Patrizia, Zollino, Marcella, Cantone, Rachele, Grosso, Enrico, Zonta, Andrea, Pasini, Barbara, Piscopo, Carmelo, De Maggio, Ilaria, Priolo, Manuela, Mammi, Corrado, Foiadelli, Thomas, Trabatti, Chiara, Savasta, Salvatore, Iolascon, Achille, Ferraris, Alessandro, Lodato, Valentina, Di Giosaffatte, Niccolò, Majore, Silvia, Selicorni, Angelo, Petracca, Antonio, Fusco, Carmela, Celli, Mauro, Guarnieri, Vito, Micale, Lucia, Castori, Marco
Publikováno v:
Human Genetics. 142:785-808
Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still
Autor:
Shelkovich Yu. Ya., Shyshko V. I., Snitko V. N., Kavalenia P. A., Larionova I. N., Gorbacheva S. V.
Publikováno v:
Žurnal Grodnenskogo Gosudarstvennogo Medicinskogo Universiteta, Vol 17, Iss 3, Pp 330-334 (2019)
Background. Marfan syndrome (MS) is a hereditary connective tissue disease (HCTD), which is accompanied by the development of aortic aneurism, ectopia lentis and signs of systemic involvement of connective tissue with high risk of fatal outcome in yo
Externí odkaz:
https://doaj.org/article/d9268181044d4f8abec373f040944368
Autor:
A. V. Klemenov
Publikováno v:
Klinicist, Vol 9, Iss 1, Pp 42-49 (2015)
Externí odkaz:
https://doaj.org/article/2eeedc297aa4463aa70a683e643376b2
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Российский кардиологический журнал, Vol 0, Iss 1, Pp 50-53 (2013)
Aim. To investigate the role of hereditary mechanisms in the development of sclerotic degenerative disorders of aortic valve. Material and methods. Clinical, phenotypical, and echocardiographic examination was performed in 180 middle-aged and elderly
Externí odkaz:
https://doaj.org/article/390dcaa5473d4bb590489ddcea5e4111
Autor:
Desmond P. Kelly, Stephen M. Edelson, Emily L. Casanova, Manuel F. Casanova, Julia L. Sharp, Estate M. Sokhadze
Publikováno v:
Journal for ReAttach Therapy and Developmental Diversities, Vol 2, Iss 2, Pp 82-95 (2020)
BackgroundA growing body of literature suggests etiological overlap between Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorders (HSD) and some cases of autism, although this relationship is poorly delineated. In addition, immune, autonomic,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9899190fad05c93aa1945c3cd6348e1a
https://zenodo.org/record/3625204
https://zenodo.org/record/3625204
Autor:
S. V. Gorbacheva, V. I. Shyshko, P. A. Kavalenia, I. N. Larionova, Yu. Ya. Shelkovich, V. N. Snitko
Publikováno v:
Žurnal Grodnenskogo Gosudarstvennogo Medicinskogo Universiteta, Vol 17, Iss 3, Pp 330-334 (2019)
Background. Marfan syndrome (MS) is a hereditary connective tissue disease (HCTD), which is accompanied by the development of aortic aneurism, ectopia lentis and signs of systemic involvement of connective tissue with high risk of fatal outcome in yo
Введение. Статья посвящена изучению распространенности наследственных и многофакторных нарушений соединительной ткани (ННСТ) у пациен
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a12311e58152019de57301c19b0f5ac9
Наследственные нарушения соединительной ткани характеризуются системными проявлениями с вовлечением различных органов и изменением
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49733422178386e5bd61b5bf5ce48297