Sergio Castedo

Porto, Portugal

Last Updated: 09/26/2026

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Found 11 publications

A comprehensive study on surveillance outcomes of a male population followed at a hereditary breast cancer high-risk consultation at a Portuguese tertiary hospital.

A comprehensive study on surveillance outcomes of a male population followed at a hereditary breast cancer high-risk consultation at a Portuguese tertiary hospital.

Journal: Journal of cancer research and clinical oncology

Published: March 30, 2023

Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis).

Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis).

Journal: BMJ case reports

Published: March 08, 2023

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Journal: The Lancet. Oncology

Published: July 17, 2022

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 CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.

Journal: Cancers

Published: July 30, 2021

Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome.

Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome.

Journal: European journal of medical genetics

Published: May 15, 2021

Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease.

Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease.

Journal: Gastrointestinal endoscopy

Published: October 05, 2017

Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.

Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.

Journal: Orphanet journal of rare diseases

Published: June 04, 2016

Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report.

Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report.

Journal: Prenatal diagnosis

Published: May 05, 2014

A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene.

A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene.

Journal: Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion

Published: April 22, 2012

Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.

Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.

Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

Published: January 27, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026