Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Ignacio Del Castillo

13PUBLICATIONS

70CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsGenetic immunologyOther European languagesEpigenetics (incl. genome methylation and epigenomics)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (13)

Sort by Publication Date:

|Sep 22, 2025

A Novel 1259 bp Intragenic Deletion in the <i>GJB2</i> Gene in a Mexican Family with Congenital Profound Hearing Loss.

David Oaxaca-Castillo, Laura Taño-Portuondo, Montserrat Rodríguez-Ballesteros

|Jul 12, 2025

De Novo Heterozygous <i>GATA3</i> Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.

María Domínguez-Ruiz, Gema Garrido, Paz Martínez-Beneyto

|Jul 27, 2024

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.

María Domínguez-Ruiz, Margarita Olarte, Esther Onecha

|Apr 11, 2024

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.

María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras

|Nov 25, 2023

Novel Pathogenic Variants in the Gene Encoding Stereocilin (<i>STRC</i>) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.

María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio

|May 23, 2023

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.

Laurence Jonard, Davide Brotto, Miguel A Moreno-Pelayo

Pageof 3

Frequent Collaborators

7 joint publications

María Domínguez-Ruiz

7 joint publications

Miguel A Moreno-Pelayo

4 joint publications

Matias Morín

3 joint publications

Francisco J Del Castillo

2 joint publications

Pietro Scimemi

2 joint publications

Rosamaria Santarelli

2 joint publications

Gema Garrido

2 joint publications

Hannie Kremer

1 joint publications

Andrea M Oza

1 joint publications

Hyunseok P Kang

Frequent Collaborators

7 joint publications

María Domínguez-Ruiz

7 joint publications

Miguel A Moreno-Pelayo

4 joint publications

Matias Morín

3 joint publications

Francisco J Del Castillo

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

See more related videos

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

See more related videos