Ignacio del Castillo - Hospital Universitario Ramon y Cajal

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论文共 181 篇作者统计合作学者相似作者

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

Maria Dominguez-Ruiz,Margarita Olarte, Esther Onecha, Irene Garcia-Vaquero,Nancy Gelvez,Greizy Lopez,Manuela Villamar,Matias Morin,Miguel A. Moreno-Pelayo,Carmelo Morales-Angulo,Ruben Polo, Martha L. Tamayo,Ignacio del Castillo

GENESno. 7 (2024)

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Preservation of Distortion Product Otoacoustic Emissions in OTOF -Related Hearing Impairment

Rosamaria Santarelli,Pietro Scimemi,Elona Cama,Maria Dominguez-Ruiz,Chiara Bonora,Chiara Gallo,Montserrat Rodriguez-Ballesteros,Ignacio del Castillo

EAR AND HEARING（2024）

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Sensorineural Hearing Loss in Patients with the M.1555a>g Mutation in the MTRNR1 Gene

Jaime Gallo-Teran, Cristina Salomon-Felechosa,Rocio Gonzalez-Aguado, Esther Onecha,Ana Fontalba,Ignacio del Castillo,Carmelo Morales-Angulo

LARYNGOSCOPE (2024)

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Hearing Loss Secondary to Variants in the OTOF Gene

Carmelo Morales-Angulo,Jaime Gallo-Teran,Rocio Gonzalez-Aguado, Esther Onecha,Ignacio del Castillo

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2024)

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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,Marta Cantero,Gema Garrido, Belén Martín-Bernardo,Elena Gómez-Rosas,Almudena Fernández,Francisco J. del Castillo,Lluís Montoliu,Isabel Varela-Nieto,Ignacio del Castillo

BMC Genomicsno. 1 (2024): 1-14

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

Maria Dominguez-Ruiz,Laura Ruiz-Palmero,Paula I. Buonfiglio, Irene Garcia-Vaquero,Elena Gomez-Rosas, Marina Goni,Manuela Villamar,Matias Morin,Miguel A. Moreno-Pelayo,Ana B. Elgoyhen,Francisco J. del Castillo,Viviana Dalamon,Ignacio del Castillo

Biomedicinesno. 11 (2023): 2943-2943

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Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

Maria Dominguez-Ruiz,Montserrat Rodriguez-Ballesteros,Marta Gandia,Elena Gomez-Rosas,Manuela Villamar,Pietro Scimemi,Patrizia Mancini,Nanna D. Rendtorff,Miguel A. Moreno-Pelayo,Lisbeth Tranebjaerg,Carme Meda,Rosamaria Santarelli,Ignacio del Castillo

Genesno. 1 (2022): 149

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Genetic Etiology of Non-Syndromic Hearing Loss in Europe

del Castillo Ignacio,Morín Matías,Domínguez-Ruiz María,Moreno-Pelayo Miguel A.

Human genetics（2022）

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Genetics of Hearing Impairment

Hannie Kremer,Ignacio del Castillo

Genesno. 5 (2022)

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