Elena Vallespin

La Paz, MD, Spain

Last Updated: 09/26/2026

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Found 49 publications

Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.

Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.

Journal: Clinical genetics

Published: October 23, 2025

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

Journal: Clinical genetics

Published: March 12, 2025

Review: Clinical findings and genetic characterization of children affected with X-linked retinoschisis in the Spanish population.

Review: Clinical findings and genetic characterization of children affected with X-linked retinoschisis in the Spanish population.

Journal: European journal of ophthalmology

Published: December 09, 2024

Phenotype Spectrum of TRPM3-Associated Disorders.

Phenotype Spectrum of TRPM3-Associated Disorders.

Journal: Annals of neurology

Published: June 25, 2024

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.

Journal: International journal of molecular sciences

Published: August 30, 2023

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.

Journal: Genes

Published: August 30, 2023

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

Journal: International journal of molecular sciences

Published: May 25, 2023

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.

Journal: Current issues in molecular biology

Published: November 22, 2022

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation.

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation.

Journal: International journal of molecular sciences

Published: November 21, 2022

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.

Journal: International journal of molecular sciences

Published: March 22, 2022

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Journal: European journal of endocrinology

Published: May 26, 2021

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus.

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus.

Journal: Genes

Published: April 11, 2021

Showing 1-12 of 49

Last Updated: 09/26/2026