Zobrazeno 1 - 5 of 5 pro vyhledávání: '"J H Montoya"'
1
CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review
Autor: L M, Zuluaga Gómez, S C, Caballero Mojica, G J, Vélez Rengifo, J D, Bravo Acosta, J H, Montoya Villada
Publikováno v: Archivos de la Sociedad Española de Oftalmología (English Edition). 97:44-47
The most cases of persistence hyperplastic primary vitreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::133a0a57e67ea679c5622442f3364844
https://doi.org/10.1016/j.oftale.2020.11.018
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2
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations
Autor: S Ünal, J Koeglmeier, M Meissl, H Ayyıldız Civan, J Melek, T Siahanidou, A M Demir, Patrick Gerner, J H Montoya, Duba H-C., Denise Aldrian, A Koutroumpa, Sahar Mansour, Michael W. Hess, Murat Cakir, Georg F. Vogel, Thomas Müller, J Hornova, T K Frey, Aysel Ünlüsoy Aksu, Y Rachman, Ekkehard Sturm, Andreas R. Janecke, G Düker, M Miqdady, Lukas A. Huber, R Lima, Frank M. Ruemmele, Carsten Posovszky, J Hertecant, Holm H. Uhlig, E Ramos Boluda, Stefan Wirth, Raffi Lev-Tzion, C Deppisch, R Lanzersdorfer, Merit M. Tabbers, Simone Kathemann, Yaron Avitzur
Publikováno v: Journal of Clinical Medicine, Vol 10, Iss 481, p 481 (2021)
Journal of clinical medicine, 10(3):481, 1-15. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine
Volume 10
Issue 3
Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion diseas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a378cf582516dca7504ff713f219f8f
https://www.mdpi.com/2077-0383/10/3/481
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3
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]
Autor: S M, Pira-Paredes, J H, Montoya-Villada, J L, Franco-Restrepo, M, Moncada-Velez, J W, Cornejo
Publikováno v: Revista de neurologia. 64(11)
Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::59b0edf8741cfdd5129d4d26d106d861
https://pubmed.ncbi.nlm.nih.gov/28555453
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4
A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)
Autor: J H Montoya-Villada, J W Cornejo, M Moncada-Velez, J L Franco-Restrepo, S M Pira-Paredes
Publikováno v: Repositorio UdeA
Universidad de Antioquia
instacron:Universidad de Antioquia
RESUMEN: Introducción. El síndrome de Ritscher-Schinzel (también conocido como displasia cráneo-cerebelo-cardíaca o síndrome 3C) es un síndrome genético raro que se caracteriza principalmente por la asociación de anomalías cardíacas, crane
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c65a92013b10d04cc75d7c9241c22d16
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