Raul Ayala-Ramirez
Overview
Explore the profile of Raul Ayala-Ramirez including associated specialties, affiliations and a list of published articles.
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12
Citations
352
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Recent Articles
1.
Kumari A, Ayala-Ramirez R, Zenteno J, Huffman K, Sasik R, Ayyagari R, et al.
Sci Rep
. 2022 Sep;
12(1):15273.
PMID: 36088481
Mutations in the Membrane-type frizzled related protein (Mfrp) gene results in an early-onset retinal degeneration associated with retinitis pigmentosa, microphthalmia, optic disc drusen and foveal schisis. In the current study,...
2.
Chekuri A, Sahu B, Chavali V, Voronchikhina M, Soto-Hermida A, Suk J, et al.
Hum Gene Ther
. 2018 Dec;
30(5):632-650.
PMID: 30499344
Patients harboring homozygous c.498_499insC mutations in demonstrate hyperopia, microphthalmia, retinitis pigmentosa, retinal pigment epithelial atrophy, variable degrees of foveal edema, and optic disc drusen. The disease phenotype is variable, however,...
3.
Chacon-Camacho O, Cabral-Macias J, Ayala-Ramirez R, Arteaga-Vazquez J, Svyryd Y, Helmes K, et al.
Rev Invest Clin
. 2016 Dec;
68(5):269-274.
PMID: 27941963
Background: Okihiro syndrome is an autosomal-dominant condition characterized by radial ray malformations associated with Duane anomaly and other clinical characteristics. SALL4 mutations have been identified in 80-90% of patients with...
4.
Chacon-Camacho O, Buentello-Volante B, Velazquez-Montoya R, Ayala-Ramirez R, Zenteno J
Gene
. 2013 Nov;
534(2):218-21.
PMID: 24211322
Objective: Monogenic congenital cataract is one of the most genetically heterogeneous ocular conditions with almost 30 different genes involved in its etiology. In adult patients, genotype-phenotype correlations are troubled by...
5.
Wang F, Wang H, Tuan H, Nguyen D, Sun V, Keser V, et al.
Hum Genet
. 2013 Oct;
133(3):331-45.
PMID: 24154662
Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information is invaluable for an accurate clinical diagnosis of RP due to...
6.
Chacon-Camacho O, Granillo-Alvarez M, Ayala-Ramirez R, Zenteno J
Exp Eye Res
. 2013 Feb;
109:77-82.
PMID: 23419329
The aim of this study was to assess the mutational spectrum of the ABCA4 gene in a cohort of patients with Stargardt disease from Mexico, a previously uncharacterized population. Clinical...
7.
Buentello-Volante B, Rodriguez-Ruiz G, Miranda-Duarte A, Pompa-Mera E, Graue-Wiechers F, Bekker-Mendez C, et al.
Mol Vis
. 2012 Nov;
18:2518-25.
PMID: 23112567
Purpose: To investigate the association of age-related macular degeneration (AMD)-high risk alleles of the complement factor H (CFH), complement factor B (CFB), complement component 2 (C2), complement component 3 (C3),...
8.
Zenteno J, Buentello-Volante B, Ayala-Ramirez R, Villanueva-Mendoza C
Am J Med Genet A
. 2011 Apr;
155A(5):1001-6.
PMID: 21484995
The association of retinitis pigmentosa (RP) and microphthalmia has been reported in a number of familial and isolated cases. Here, the results of genetic analysis in a familial case of...
9.
Matias-Florentino M, Ayala-Ramirez R, Graue-Wiechers F, Zenteno J
Curr Eye Res
. 2009 Dec;
34(12):1050-6.
PMID: 19958124
Objective: Autosomal dominant (AD) inheritance accounts for 15-20% of retinitis pigmentosa (RP) familial cases. The characterization of AD RP-related mutations remains essential because it provides both accurate diagnosis and clinically...
10.
Crespi J, Buil J, Bassaganyas F, Vela-Segarra J, Diaz-Cascajosa J, Ayala-Ramirez R, et al.
Am J Ophthalmol
. 2008 Jun;
146(2):323-328.
PMID: 18554571
Purpose: To describe the clinical and genetic characteristics of the second family with a recently described recessive syndrome characterized by posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen. Design:...