Mirena C. Astiazaran

Mexico City, DIF, Mexico

Last Updated: 09/26/2026

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Found 10 publications

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.

Journal: International ophthalmology

Published: April 03, 2023

High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox".

High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox".

Journal: European journal of medical genetics

Published: December 09, 2022

Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient.

Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient.

Journal: Clinical dysmorphology

Published: November 09, 2021

Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography.

Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography.

Journal: Archivos de la Sociedad Espanola de Oftalmologia

Published: October 29, 2018

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Journal: European journal of medical genetics

Published: June 24, 2018

Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.

Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.

Journal: American journal of medical genetics. Part A

Published: February 09, 2018

Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome.

Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome.

Journal: Ophthalmic plastic and reconstructive surgery

Published: January 13, 2018

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.

Journal: Genetic testing and molecular biomarkers

Published: November 14, 2017

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

Journal: Molecular vision

Published: August 26, 2017

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.

Journal: Clinical & experimental ophthalmology

Published: February 02, 2017

Showing 1-10 of 10

Last Updated: 09/26/2026