Ariadna Miquel-Padro

L'hospitalet De Llobregat, CT, Spain

Last Updated: 09/26/2026

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Found 36 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

Cancer-Related Cognitive Impairment in Patients With Lung Cancer.

Cancer-Related Cognitive Impairment in Patients With Lung Cancer.

Journal: Neurology
Published: June 03, 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

SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

Journal: Neurology. Genetics
Published: January 17, 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

Everolimus Through Plasmatic Concentrations in Cancer Patients: Prospective Longitudinal Observational Multicentric Study (DIANA-1 Project).

Everolimus Through Plasmatic Concentrations in Cancer Patients: Prospective Longitudinal Observational Multicentric Study (DIANA-1 Project).

Journal: Journal of clinical medicine
Published: August 29, 2024

Pneumomediastinum as an Early Manifestation in Birt-Hogg-Dubé Syndrome.

Pneumomediastinum as an Early Manifestation in Birt-Hogg-Dubé Syndrome.

Journal: Archivos de bronconeumologia
Published: August 15, 2024

Diagnostic and prognostic implications of family history of fibrotic interstitial lung diseases.

Diagnostic and prognostic implications of family history of fibrotic interstitial lung diseases.

Journal: Respiratory research
Published: June 09, 2024

Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.

Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.

Journal: Biomedicines
Published: December 20, 2023

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

Comment on: Brentuximab vedotin-related neuropathy in a patient with Gilbert syndrome: Do mutations of UGT1A1 gene affect brentuximab toxicity?

Comment on: Brentuximab vedotin-related neuropathy in a patient with Gilbert syndrome: Do mutations of UGT1A1 gene affect brentuximab toxicity?

Journal: Pediatric blood & cancer
Published: June 11, 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