Maria J. Gamundi

Terrassa, CT, Spain

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications

Night blindness and hearing loss associated with choroideremia.

Night blindness and hearing loss associated with choroideremia.

Journal: Clinical & experimental optometry
Published: June 22, 2023

Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.

Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.

Journal: PloS one
Published: February 07, 2023

Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort.

Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort.

Journal: Journal of ophthalmology
Published: December 14, 2016

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.

Journal: Molecular vision
Published: February 13, 2015

Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.

Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.

Journal: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
Published: September 15, 2014

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.

Journal: Clinical genetics
Published: February 08, 2013

Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.

Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.

Journal: Molecular vision
Published: December 20, 2012

High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity.

High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity.

Journal: Frontiers in genetics
Published: August 30, 2012

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Journal: Molecular vision
Published: July 18, 2012

Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.

Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.

Journal: Clinical genetics
Published: October 11, 2011
Showing 1-10 of 10

Last Updated: 09/26/2026