Sofia Quental

Ferreira, 4050346, Portugal

Last Updated: 09/26/2026

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Found 8 publications

Functional Characterization of a Novel Homozygous DNAH5 Single-Nucleotide Intronic Deletion in a Consanguineous Portuguese Family with Primary Ciliary Dyskinesia.

Functional Characterization of a Novel Homozygous DNAH5 Single-Nucleotide Intronic Deletion in a Consanguineous Portuguese Family with Primary Ciliary Dyskinesia.

Journal: Cells
Published: April 28, 2026

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.

Journal: Annals of human genetics
Published: May 11, 2024

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.

Journal: Nefrologia
Published: May 22, 2023

A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.

A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.

Journal: Neuropediatrics
Published: January 18, 2023

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.

Journal: Cytogenetic and genome research
Published: November 18, 2021

The mutational spectrum of WT1 in male infertility.

The mutational spectrum of WT1 in male infertility.

Journal: The Journal of urology
Published: November 05, 2014

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia.

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia.

Journal: Reproductive biomedicine online
Published: October 18, 2013

Molecular characterization of maple syrup urine disease patients from Tunisia.

Molecular characterization of maple syrup urine disease patients from Tunisia.

Journal: Gene
Published: September 08, 2012
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Last Updated: 09/26/2026