Francisco J. Del Castillo

Madrid, MD 28034, Spain

Last Updated: 09/26/2026

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Found 16 publications

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

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

Journal: International journal of molecular sciences

Published: May 23, 2025

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).

Journal: Genes

Published: October 23, 2024

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

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

Journal: BMC genomics

Published: February 06, 2024

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

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

Journal: Biomedicines

Published: October 10, 2023

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

Journal: Biomedicines

Published: September 21, 2023

Spanish consensus on managing pregnancy in women with Gaucher disease.

Spanish consensus on managing pregnancy in women with Gaucher disease.

Journal: Orphanet journal of rare diseases

Published: July 12, 2023

Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia.

Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia.

Journal: Acta dermato-venereologica

Published: February 17, 2023

Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera.

Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera.

Journal: Scientific reports

Published: April 30, 2020

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.

Journal: JIMD reports

Published: August 01, 2019

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Journal: Frontiers in molecular neuroscience

Published: October 09, 2017

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

Journal: Investigative ophthalmology & visual science

Published: October 25, 2014

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Journal: Pediatric research

Published: July 30, 2014

Showing 1-12 of 16

Last Updated: 09/26/2026