Antonio F. Monseny-Martinez

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 46 publications

Correction: Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.

Correction: Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.

Journal: Frontiers in pediatrics
Published: May 14, 2026

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.

Journal: Genes
Published: March 13, 2026

Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome.

Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome.

Journal: Genes
Published: July 17, 2025

A Case Report of a Mild and Atypical Presentation of Proteus Syndrome.

A Case Report of a Mild and Atypical Presentation of Proteus Syndrome.

Journal: Pediatric dermatology
Published: March 19, 2025

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

Journal: Diagnostics (Basel, Switzerland)
Published: October 25, 2024

Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicine.

Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicine.

Journal: Anales de pediatria
Published: October 18, 2024

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Journal: Clinical genetics
Published: October 02, 2024

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Journal: HGG advances
Published: September 22, 2024

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Journal: Nature genetics
Published: September 13, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square
Published: June 21, 2024

Unravelling short stature in pediatrics: the crucial role of genetic perspective.

Unravelling short stature in pediatrics: the crucial role of genetic perspective.

Journal: Translational pediatrics
Published: February 19, 2024

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Journal: Pediatric neurology
Published: December 20, 2023
Showing 1-12 of 46

Last Updated: 09/26/2026