Genetics and sensorineural pathophysiology
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Only original articles, editorials, guidelines.
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Hammoud, Miloud, Dominguez-Ruiz, Maria, Assiri, Imane, Rodrigues, Daniel, Aboussair, Nisrine, Lanza, Val F., Villarrubia, Jesus, Colon, Cristobal, Fdil, Naima, del Castillo, Francisco J..
Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS)
GENES . 15(12): .
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Araujo-Castro M, Ruiz-Sánchez JG, Gonzalvo C, Lamas C, Parra Ramírez P, Martín Marcos-Rojas P, Paja M, Robles Lázaro C, Michalapou T, Tous M, González M, Recio Córdova JM, Casteras A, Fernández-Álvarez P, Barca Tierno V, Mulatero P.
Genetic testing for primary aldosteronism in SPAIN: Results from the SPAIN-ALDO Registry and review of the literature.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM . : .
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Morales-Angulo C, Gallo-Terán J, González-Aguado R, Onecha E, Del Castillo I.
Hearing loss secondary to variants in the OTOF gene.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY . 186: 112082-112082.
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Lewis MA, Lachgar-Ruiz M, Di Domenico F, Duddy G, Chen J, Fernandez S, Morin M, Williams G, Moreno Pelayo MA, Steel KP.
Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations.
GENOME MEDICINE . 16(1): 121-121.
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Gallo-Terán J, Salomón-Felechosa C, González-Aguado R, Onecha E, Fontalba A, Del Castillo I, Morales-Angulo C.
Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.
Laryngoscope . : .
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Vida-Navas, Elena, Barca-Tierno, Veronica, Lopez-Gomez, Victoria, Salazar, Maria Teresa, Moreno-Pelayo, Miguel A., Guillen-Ponce, Carmen.
Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?
GENES . 15(9): .
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Sánchez Carretero L, Cardeñosa Pérez ÀC, Peces-Barba G, Pérez-Rial S.
Differential lung gene expression identified Zscan2 and Bag6 as novel tissue repair players in an experimental COPD model.
Plos One . 19(8): .
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Domínguez-Ruiz M, Olarte M, Onecha E, García-Vaquero I, Gelvez N, López G, Villamar M, Morín M, Moreno-Pelayo MA, Morales-Angulo C, Polo R, Tamayo ML, Del Castillo I.
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
GENES . 15(7): .
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Domínguez-Ruiz M, Murillo-Cuesta S, Contreras J, Cantero M, Garrido G, Martín-Bernardo B, Gómez-Rosas E, Fernández A, Del Castillo FJ, Montoliu L, Varela-Nieto I, Del Castillo I.
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.
Bmc Genomics . 25(1): 359-359.
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Fernández-Caballero L, Martín-Merida I, Blanco-Kelly F, Avila-Fernandez A, Carreño E, Fernandez-San Jose P, Irigoyen C, Jimenez-Rolando B, Lopez-Grondona F, Mahillo I, Martin-Gutierrez MP, Minguez P, Perea-Romero I, Del Pozo-Valero M, Riveiro-Alvarez R, Rodilla C, Rodriguez-Peña L, Sánchez-Barbero AI, Swafiri ST, Trujillo-Tiebas MJ, Zurita O, García-Sandoval B, Corton M, Ayuso C.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(5): . Number of citations: 2
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Santarelli R, Scimemi P, Cama E, Domínguez-Ruiz M, Bonora C, Gallo C, Rodríguez-Ballesteros M, Del Castillo I.
Preservation of Distortion Product Otoacoustic Emissions in OTOF-Related Hearing Impairment.
EAR AND HEARING . 45(1): 250-256.
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Domínguez-Ruiz M, Ruiz-Palmero L, Buonfiglio PI, García-Vaquero I, Gómez-Rosas E, Goñi M, Villamar M, Morín M, Moreno-Pelayo MA, Elgoyhen AB, Del Castillo FJ, Dalamón V, Del Castillo I.
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects
Biomedicines . 11(11): .
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Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P, O'Callaghan Gordo M.
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study
Biomedicines . 11(10): .
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Saceda-Corralo D, Ortega-Quijano D, Muñoz-Martín G, Moreno-Arrones ÓM, Pindado-Ortega C, Rayinda T, Melián-Olivera A, Azcárraga-Llobet C, Burgos-Blasco P, Castañeda-Bermúdez ME, del Castillo FJ, Vañó-Galván S.
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.
ACTA DERMATO-VENEREOLOGICA . 103: 9604-9604.
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Zhu GJ, Huang Y, Zhang L, Yan K, Qiu C, He Y, Liu Q, Zhu C, Morín M, Moreno-Pelayo MÁ, Zhu MS, Cao X, Zhou H, Qian X, Xu Z, Chen J, Gao X, Wan G.
Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse
EMBO MOLECULAR MEDICINE . : .
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Lachgar-Ruiz M, Morín M, Martelletti E, Ingham NJ, Preite L, Lewis MA, de Castro LSS, Steel KP, Moreno-Pelayo MÁ.
Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.
DISEASE MODELS & MECHANISMS . 16(8): .
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Fañanas-Baquero S, Morín M, Fernández S, Ojeda-Perez I, Dessy-Rodriguez M, Giurgiu M, Bueren JA, Moreno-Pelayo MA, Segovia JC, Quintana-Bustamante O.
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.
Frontiers In Genome Editing . 5: 1104666-1104666.
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Bravo-Alonso I, Morin M, Arribas-Carreira L, Álvarez M, Pedrón-Giner C, Soletto L, Santolaria C, Ramón-Maiques S, Ugarte M, Rodríguez-Pombo P, Ariño J, Moreno-Pelayo MÁ, Pérez B.
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy
Journal of inherited metabolic disease . 46(2): 261-272. Number of citations: 2