Zobrazeno 1 - 10
of 918
pro vyhledávání: '"Franceschetti syndrome"'
Publikováno v:
MAMC Journal of Medical Sciences, Vol 4, Iss 2, Pp 96-99 (2018)
Franceschetti Syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It affects structures which are derivatives of the first and second brachial arches. It has a characteristic facial appearance as a resul
Externí odkaz:
https://doaj.org/article/03deeca7000c4917938513f19021a3b7
Publikováno v:
Саратовский научно-медицинский журнал, Vol 11, Iss 4, Pp 551-553 (2015)
The aim of the article is to present the clinical experience of conducting the patient with a congenital disease (mandibulo-facial dysostosis) resulting from defeat of the structures proceeding from the first branchial arch. The pathological state is
Externí odkaz:
https://doaj.org/article/1d19d0d9d1844482b2e64fdfc1589ce2
Publikováno v:
MAMC Journal of Medical Sciences, Vol 4, Iss 2, Pp 96-99 (2018)
Franceschetti Syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It affects structures which are derivatives of the first and second brachial arches. It has a characteristic facial appearance as a resul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd4984d27f947eff87e1940d72b63e2
http://www.mamcjms.in/article.asp?issn=2394-7438
http://www.mamcjms.in/article.asp?issn=2394-7438
Publikováno v:
Russian Otorhinolaryngology. 100:96-101
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf36736917baff79ed56553db8bdd679
https://doi.org/10.18692/1810-4800-2019-3-96-101
https://doi.org/10.18692/1810-4800-2019-3-96-101
Autor:
Vikrant Kasat
Publikováno v:
Contemporary Clinical Dentistry, Vol 2, Iss 3, Pp 245-248 (2011)
Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS). It is named after E. Treacher Collins who described the essential components of
Externí odkaz:
https://doaj.org/article/280f18bc45ef442ab31d8e61ca1f8e8c
Autor:
Bowman, Michael1, Oldridge, Michael1, Archer, Caroline1, O'Rourke, Anthony1, McParland, Joanna2, Brekelmans, Roel3, Seller, Anneke1, Lester, Tracy1
Publikováno v:
European Journal of Human Genetics. Jul2012, Vol. 20 Issue 7, p769-777. 9p.
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Esterina Pascale, Ettore D'Ambrosio, Barbara Angeletti, Paola Giammaria, Bruni L, Roberto Verna, M. C. Tozzi
Publikováno v:
Scopus-Elsevier
Genotyping with flanking DNA markers was used to ascertain Treacher Collins Franceschetti syndrome (TCOF1) in a subject affected by tetralogy of Fallot and cryptorchidism. The proband's family consisted of a father and sister who were affected by the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0992c86d35125d78e0806e1992b01af2
https://doi.org/10.1111/j.1399-0004.1996.tb02354.x
https://doi.org/10.1111/j.1399-0004.1996.tb02354.x
Autor:
Chantal Ferber-Viart, Eric Truy, Paul Berger, Christian Dubreuil, Nick Pergola, Stéphane Tringali
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 72:513-517
Summary The objective is to investigate a new therapeutic option for treatment of conductive hearing loss in children with Franceschetti syndrome. A Carina fully implantable device with the MET™ V transducer for conductive applications was implante
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a35a6772c9aa5126a43b5c6512c6cf54
https://doi.org/10.1016/j.ijporl.2007.12.002
https://doi.org/10.1016/j.ijporl.2007.12.002