Froylan A. Martinez-Garcia
Mexico City, DIF, Mexico
Last Updated: 09/26/2026
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Found 9 publications
The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).
Journal: Orphanet journal of rare diseases
Published: August 18, 2025
Familial fleck corneal dystrophy caused by complete deletion of the PIKFYVE gene.
Journal: Ophthalmic genetics
Published: July 03, 2024
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach.
Journal: Molecular genetics & genomic medicine
Published: May 21, 2024
Prevalence of Ten Gene Variants Involved in Muscular Phenotypes in a Mexican Mestizo Population.
Journal: Muscles (Basel, Switzerland)
Published: September 09, 2023
Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases.
Journal: Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion
Published: September 10, 2022
Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant.
Journal: Ophthalmic genetics
Published: April 26, 2022
Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection.
Journal: Molecules (Basel, Switzerland)
Published: February 28, 2015
The rs3857059 variant of the SNCA gene is associated with Parkinson's disease in Mexican Mestizos.
Journal: Arquivos de neuro-psiquiatria
Published: February 05, 2015
Showing 1-9 of 9
Last Updated: 09/26/2026