Zobrazeno 1 - 10
of 197
pro vyhledávání: '"Weil Marchesani syndrome"'
Autor:
Levitas, Aviva1 (AUTHOR) alevitas@bgu.ac.il, Aspit, Liam2,3 (AUTHOR) aspit@bgu.ac.il, Lowenthal, Neta4 (AUTHOR) netali@clalit.org.il, Shaki, David4 (AUTHOR) shakid@bgu.ac.il, Krymko, Hanna1 (AUTHOR) annk@bgu.ac.il, Slanovic, Leonel1 (AUTHOR) leonelsl@clalit.org.il, Yagev, Ronit5 (AUTHOR) yagev@bgu.ac.il, Parvari, Ruti2,3 (AUTHOR) ruthi@bgu.ac.il
Publikováno v:
International Journal of Molecular Sciences. May2023, Vol. 24 Issue 10, p8864. 11p.
Autor:
Rodríguez López, Carlos Emiliano1 emiliano.1695@gmail.com, Mora González, Guadalupe Fernando1, Jáuregui García, Gerardo Daniel1
Publikováno v:
Pan-American Journal of Ophthalmology. 2020, Vol. 2 Issue 1, p1-4. 4p.
Autor:
Aviva Levitas, Liam Aspit, Neta Lowenthal, David Shaki, Hanna Krymko, Leonel Slanovic, Ronit Yagev, Ruti Parvari
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 10; Pages: 8864
Weill–Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including micr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add370439ee3c456ab00ed58e9dd7c79
Autor:
Carlos Emiliano Rodríguez Lopez, Guadalupe Fernando Mora González, Gerardo Daniel Jáuregui García
Publikováno v:
The Pan-American Journal of Ophthalmology, Vol 2, Iss 1, Pp 10-10 (2020)
Weill–Marchesani syndrome is a rare connective tissue disorder, with a poorly understood etiology that has been primarily related to hereditary genetic factors, including mutations in ADAMTS10 and fibrillin-1. Clinically, it is characterized by a p
Externí odkaz:
https://doaj.org/article/2cd4aeee0a56433a97ef0d40c1ddfdd0
Publikováno v:
Genomics & Genetics Weekly; 6/16/2023, p2014-2014, 1p
Akademický článek
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Autor:
Asaoka, Ryo1, Kato, Masaru1, Suami, Masahiro1, Usami, Yoshimasa1, Hotta, Yoshihiro1, Sato, Miho1
Publikováno v:
Acta Ophthalmologica Scandinavica. Oct2003, Vol. 81 Issue 5, p533. 3p.
Autor:
Bennett, Thomas M.1, Yuefang Zhou1, Meyer, Kacie J.2, Anderson, Michael G.2, Shiels, Alan1 shiels@wustl.edu
Publikováno v:
G3: Genes | Genomes | Genetics. May2023, Vol. 13 Issue 5, p1-14. 14p.
Autor:
Seydel Legra Nápoles, Rosa Maria Naranjo Fernández, Lucy Pons Castro, Teresita de J. Méndez Sánchez, Mirta Silveira Simón
Publikováno v:
Revista Cubana de Oftalmología, Vol 22, Iss 2, Pp 151-158 (2009)
El síndrome de Weill-Marchesani es un desorden genético poco frecuente del tejido conectivo con afectación ocular. Desde su descripción por Weill y Marchesani en 1932 y 1939, se han descrito patrones de herencia autosómica dominante y recesiva.
Externí odkaz:
https://doaj.org/article/8c69388ed50d496aa2209c2f1e615912
Publikováno v:
Middle East African Journal of Ophthalmology
PURPOSE: To report visual and intraocular pressure (IOP) outcomes of 4 eyes in 2 patients with Weill Marchesani Syndrome having ocular fearures of spherophakia and secondary glaucoma who underwent fibrin glue assisted intrascleral fixation of intraoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b754417b33255c2af367bca5ac9b2f0
http://europepmc.org/articles/PMC6507376
http://europepmc.org/articles/PMC6507376