Patricia Dias

Lisbon, Portugal

Last Updated: 09/26/2026

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Found 22 publications

Paget's disease of bone: Clinical and epidemiological characterisation of the population of a Portuguese tertiary centre.

Paget's disease of bone: Clinical and epidemiological characterisation of the population of a Portuguese tertiary centre.

Journal: Bone

Published: October 20, 2025

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences

Published: August 12, 2025

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 09, 2025

Challenges in the Diagnosis and Management of Triosephosphate Isomerase Deficiency: A Case Report.

Challenges in the Diagnosis and Management of Triosephosphate Isomerase Deficiency: A Case Report.

Journal: Reports (MDPI)

Published: April 10, 2025

Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.

Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.

Journal: Life science alliance

Published: May 27, 2024

Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.

Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.

Journal: European journal of medical genetics

Published: June 11, 2023

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.

Journal: Human molecular genetics

Published: August 17, 2022

Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.

Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 12, 2022

Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations.

Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations.

Journal: Stem cell research

Published: April 12, 2022

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.

Journal: Genes

Published: December 23, 2021

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 22, 2021

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 05, 2021

Showing 1-12 of 22

Last Updated: 09/26/2026