Gema Garcia-Garcia
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Explore the profile of Gema Garcia-Garcia including associated specialties, affiliations and a list of published articles.
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Citations
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Recent Articles
11.
Rodriguez-Munoz A, Liquori A, Garcia-Bohorquez B, Jaijo T, Aller E, Millan J, et al.
Sci Rep
. 2022 Jan;
12(1):68.
PMID: 34996991
Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness. Although next generation...
12.
Fuster-Garcia C, Garcia-Bohorquez B, Rodriguez-Munoz A, Aller E, Jaijo T, Millan J, et al.
Int J Mol Sci
. 2021 Jul;
22(13).
PMID: 34201633
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and...
13.
Galbis-Martinez L, Blanco-Kelly F, Garcia-Garcia G, Avila-Fernandez A, Jaijo T, Fuster-Garcia C, et al.
Acta Ophthalmol
. 2021 Feb;
99(8):922-930.
PMID: 33576163
Purpose: We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic variants in MYO7A, type of pathogenic variant, and location on...
14.
Rodriguez-Munoz A, Garcia-Bohorquez B, Udaondo P, Hervas-Ontiveros A, Salom D, Aller E, et al.
Retina
. 2021 Jan;
41(9):1966-1975.
PMID: 33411470
Purpose: To highlight the challenge of correct reproductive and therapeutic counseling in complex pedigrees with different inherited retinal dystrophies (IRD). Methods: Two hundred eight patients diagnosed with nonsyndromic IRD underwent...
15.
Garcia-Garcia G, Berzal-Serrano A, Garcia-Diaz P, Villanova-Aparisi R, Juarez-Rodriguez S, de Paula-Vernetta C, et al.
Genes (Basel)
. 2020 Dec;
11(12).
PMID: 33297549
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS)...
16.
Schwaller F, Begay V, Garcia-Garcia G, Taberner F, Moshourab R, McDonald B, et al.
Nat Neurosci
. 2020 Dec;
24(1):74-81.
PMID: 33288907
Fingertip mechanoreceptors comprise sensory neuron endings together with specialized skin cells that form the end-organ. Exquisitely sensitive, vibration-sensing neurons are associated with Meissner's corpuscles in the skin. In the present...
17.
Vache C, Puechberty J, Faugere V, Darmaisin F, Liquori A, Baux D, et al.
Front Genet
. 2020 Jul;
11:623.
PMID: 32714370
Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties. The gene, one...
18.
Fuster-Garcia C, Garcia-Bohorquez B, Rodriguez-Munoz A, Millan J, Garcia-Garcia G
Genes (Basel)
. 2020 May;
11(5).
PMID: 32349249
Inherited retinal dystrophies are an assorted group of rare diseases that collectively account for the major cause of visual impairment of genetic origin worldwide. Besides clinically, these vision loss disorders...
19.
Garcia-Garcia G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia C, Rodriguez-Munoz A, et al.
Mol Vis
. 2020 Mar;
26:216-225.
PMID: 32214787
Purpose: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. Methods: Three patients from two unrelated families were initially analyzed with...
20.
Rodriguez-Munoz A, Aller E, Jaijo T, Gonzalez-Garcia E, Cabrera-Peset A, Gallego-Pinazo R, et al.
J Mol Diagn
. 2020 Feb;
22(4):532-543.
PMID: 32036094
A cohort of 172 patients diagnosed clinically with nonsyndromic retinal dystrophies, from 110 families underwent full ophthalmologic examination, including retinal imaging, electrophysiology, and optical coherence tomography, when feasible. Molecular analysis...