Cinthia Aguilera

L'hospitalet De Llobregat, CT, Spain

Last Updated: 09/26/2026

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Found 17 publications

Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families.

Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families.

Journal: European journal of internal medicine

Published: April 28, 2026

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.

Journal: Investigative ophthalmology & visual science

Published: February 05, 2026

New genetic feature associated with fundus albipunctatus: case series of two Spanish children with LRAT gene mutation.

New genetic feature associated with fundus albipunctatus: case series of two Spanish children with LRAT gene mutation.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: July 24, 2025

Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin.

Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin.

Journal: Frontiers in genetics

Published: July 14, 2025

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Journal: Eye (London, England)

Published: March 10, 2025

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.

Journal: Genes

Published: October 27, 2024

Pioneering the future: CRISPR-Cas9 gene therapy for hereditary hemorrhagic telangiectasia. Author's reply.

Pioneering the future: CRISPR-Cas9 gene therapy for hereditary hemorrhagic telangiectasia. Author's reply.

Journal: European journal of internal medicine

Published: June 28, 2024

Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.

Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: January 19, 2024

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.

Journal: Frontiers in genetics

Published: December 07, 2023

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Journal: Clinical epigenetics

Published: October 12, 2023

New genetic drivers in hemorrhagic hereditary telangiectasia.

New genetic drivers in hemorrhagic hereditary telangiectasia.

Journal: European journal of internal medicine

Published: July 04, 2023

Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.

Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.

Journal: Genes

Published: February 28, 2023

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Last Updated: 09/26/2026