Maria I. Mora-Alvarez

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 54 publications

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Journal: Frontiers in genetics

Published: May 27, 2026

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

Glymphatic dysfunction and neuroinflammation in FXTAS: evidence from DTI-ALPS and gene expression analysis.

Glymphatic dysfunction and neuroinflammation in FXTAS: evidence from DTI-ALPS and gene expression analysis.

Journal: Frontiers in molecular neuroscience

Published: April 14, 2026

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Journal: Cellular and molecular neurobiology

Published: August 05, 2025

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.

Journal: Journal of neurology

Published: December 12, 2024

Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing.

Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing.

Journal: Frontiers in psychiatry

Published: October 23, 2024

Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.

Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.

Journal: Cancers

Published: September 28, 2024

Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.

Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.

Journal: NPJ genomic medicine

Published: August 21, 2024

Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.

Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.

Journal: Neurologia

Published: May 20, 2024

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

Journal: Database : the journal of biological databases and curation

Published: April 02, 2024

Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.

Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.

Journal: Journal of ovarian research

Published: November 09, 2023

A novel NONO nonsense variant in a fetus with renal abnormalities.

A novel NONO nonsense variant in a fetus with renal abnormalities.

Journal: Prenatal diagnosis

Published: October 26, 2023

Showing 1-12 of 54

Last Updated: 09/26/2026