Antonio Aytes-Perez

Valencia, VC, Spain

Last Updated: 09/26/2026

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Found 8 publications

Genomic newborn screening. Perspective from the Ethics Commission of the Spanish Society for Human Genetics. Part II: Ethical, legal and social issues (ELSIs) of the introduction of next generation sequencing technologies in a public health newborn screening program.

Genomic newborn screening. Perspective from the Ethics Commission of the Spanish Society for Human Genetics. Part II: Ethical, legal and social issues (ELSIs) of the introduction of next generation sequencing technologies in a public health newborn screening program.

Journal: Revista espanola de salud publica

Published: December 01, 2021

Genomic newborn screening. Perspective from the Ethics commission of the Spanish Society for Human Genetics. Part I. Next generation sequencing technologies applied to newborn screening. Challenges and opportunities.

Genomic newborn screening. Perspective from the Ethics commission of the Spanish Society for Human Genetics. Part I. Next generation sequencing technologies applied to newborn screening. Challenges and opportunities.

Journal: Revista espanola de salud publica

Published: October 26, 2021

Half a century of newborn screening in Spain: Evolution of ethical, legal and social issues (ELSIs). Part III, social issues.

Half a century of newborn screening in Spain: Evolution of ethical, legal and social issues (ELSIs). Part III, social issues.

Journal: Revista espanola de salud publica

Published: December 18, 2020

Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion.

Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion.

Journal: Journal of pediatric genetics

Published: February 07, 2019

Directed to consumer genetic testing. Perspective from the Ethics commission of the Spanish Society for Human Genetics.

Directed to consumer genetic testing. Perspective from the Ethics commission of the Spanish Society for Human Genetics.

Journal: Medicina clinica

Published: November 12, 2018

Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway

Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway

Journal: Revista de neurologia

Published: April 28, 2015

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients

Journal: Medicina clinica

Published: March 03, 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Journal: Human molecular genetics

Published: January 10, 2014

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Last Updated: 09/26/2026