Francisco J. Del Castillo - Unité de Génétique des Déficits Sensoriels INSERM U587, Institut Pasteur

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论文共 45 篇作者统计合作学者相似作者

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Descriptive Study of Patients with Gaucher Disease Type 3 in Spain and Clinical Response to Different Therapies

Pilar Giraldo,Sinziana Stanescu, Patricia Correcher Medina,Maria Camprodon Gomez,Francisco J. del Castillo, Luis Arto-Millan,Amaya Belanger, Lydia Diez Langhetee, Oscar Garcia Campos,Jimena Perez-Moreno,Barbara Rubio, Nuria Visa-Rene

MOLECULAR GENETICS AND METABOLISMno. 2 (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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Correlation of TCR Repertoire Diversity with Myeloid Gene Mutations in Chronic and Advanced Phase Myeloproliferative Neoplasms

Miguel Piris-Villaespesa,Juan Marquet, Val Fernandez-Lanza,Valentin Garcia Gutierrez,Carlos Jimenez,Francisco J. del Castillo,Gloria Munoz,Javier Lopez

Blood（2023）

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Identification of the First Genetic Variants Underlying Metachromatic Leukodystrophy in the Moroccan Population by Biochemical Analyses and NGS-based Genetic Screening

Francisco J. del Castillo,Miloud Hammoud,Imane Assiri,Maria Dominguez-Ruiz,Marta Morado,Jesus Villarrubia Espinosa,Naima Fdil

Molecular genetics and metabolismno. 2 (2023): 107073-107073

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

Sinziana Stanescu,Patricia Correcher Medina,Francisco J. del Castillo, Olga Alonso Luengo, Luis Maria Arto Millan,Amaya Belanger Quintana,Maria Camprodon Gomez, Lydia Diez Langhetee, Oscar Garcia Campos,Ana Matas Garcia,Jimena Perez-Moreno, Barbara Rubio Gribble, Nuria Visa-Rene,Pilar Giraldo-Castellano, Mar O'Callaghan Gordo

Biomedicinesno. 10 (2023): 2861-2861

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44220 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

David Saceda-Corralo,Daniel Ortega-Quijano,Cristina Pindado-Ortega,Ana Melian-Olivera,Carlos Azcárraga-Llobet,Patricia Burgos-Blasco,Francisco del Castillo,Ángela Hermosa-Gelbard,Sergio Vañó-Galván

Journal of the American Academy of Dermatologyno. 3 (2023): AB171

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Isolated lactosylceramide storage: Is it the consequence of a specific protein deficiency

Naima Fdil,Miloud Hammoud,Imane Assiri,Samira Najeh,Karima Lafhal,Es-Said Sabir,My Ahmed Elamiri,Lhoucine Gebrati, Zakaria Baki,Soumia Mrhar,Ghizlane Draiss,Mounir Bourrous,Francisco J. del Castillo,Fadl Mrabih Rabou Maoulainine,Noureddine Rada,Mohammed Bouskraoui

Molecular Genetics and Metabolism（2023）

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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

David Saceda-Corralo,Daniel Ortega-Quijano,Cristina Pindado-Ortega,Ana Melian-Olivera,Carlos Azcarraga-Llobet,Francisco del Castillo,Angela Hermosa-Gelbard,Sergio Vano-Galvan

Acta dermato-venereologica（2023）

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Next-generation Sequencing and High-Throughput Enzymolome-Based Panel Screening of Suspected Lysosomal Disease Cases Identifies Multiple Disease-Causing Variants in Two Genes Underlying Different Lysosomal Diseases: A Source of Clinical and Metabolic Variability

Francisco J. del Castillo,Maria Dominguez-Ruiz,Miloud Hammoud, Magdalena A. Ortiz-Galeana,Imane Assiri,Miguel Piris-Villaespesa,Joaquin Carrillo-Farga,Naima Fdil,Robert Jenkins,Manuel Ferrer,Jesus Villarrubia Espinosa

Molecular genetics and metabolismno. 2 (2023): 107072-107072

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