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

Cytogenetic and genome research, 2022-06, Vol.162 (1-2), p.1-9

2022

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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 of cancer research and clinical oncology, 2023-10, Vol.149 (13), p.11145-11156

2023

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

BMJ case reports, 2023-03, Vol.16 (3), p.e254366

2023

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

Gastrointestinal endoscopy, 2018-06, Vol.87 (6), p.1566-1575

2018

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Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

Human molecular genetics, 2010-02, Vol.19 (4), p.697-706

2010

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MSI phenotype and MMR alterations in familial and sporadic gastric cancer

International journal of cancer, 2011-04, Vol.128 (7), p.1606-1613

2011

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

Orphanet journal of rare diseases, 2016-07, Vol.11 (1), p.102, Article 102

2016

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Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report

Prenatal diagnosis, 2015-02, Vol.35 (2), p.203-205

2015

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Risk-reducing total gastrectomy in asymptomatic CDH1 carriers: Experience of a tertiary hospital

European surgery, 2020-08, Vol.52 (4), p.171-178

2020

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

Cancers, 2021-09, Vol.13 (17), p.4464

2021

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Cytologic and Cytogenetic Diagnosis of Pediatric Renal Cell Carcinoma Associated with t(X;17)

Acta cytologica, 2008-05, Vol.52 (3), p.384-386

2008

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E-Cadherin ( CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients

European journal of cancer (1990), 2004-08, Vol.40 (12), p.1897-1903

2004

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No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin

BMC cancer, 2005-08, Vol.5 (1), p.101-101, Article 101

2005

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Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome

European journal of medical genetics, 2022-05, Vol.65 (5), p.104479-104479, Article 104479

2022

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

Europace (London, England), 2012-06, Vol.14 (6), p.882-888

2012

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Chromosomal changes in human primary testicular nonseminomatous germ cell tumors

Cancer research (Chicago, Ill.), 1989-10, Vol.49 (20), p.5696-5701

1989

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TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset

Familial cancer, 2009-12, Vol.8 (4), p.383-390

2009

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Cytogenetic analysis of ten human seminomas

Cancer research (Chicago, Ill.), 1989-01, Vol.49 (2), p.439-443

1989

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Positive biochemical screening for trisomy 18: on the path of trisomy 9

Prenatal diagnosis, 2008-02, Vol.28 (2), p.162-164

2008

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Diagnostic criteria for the Brugada syndrome: can they be improved?

Revista portuguesa de cardiologia, 2012-05, Vol.31 (5), p.355-362

2012

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BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

Familial cancer, 2006-11, Vol.5 (4), p.379-387

2006

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Critérios de diagnóstico da Síndrome de Brugada. Podemos melhorar?

Revista portuguesa de cardiologia, 2012-05, Vol.31 (5), p.355-362

2012

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Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer

Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2023-09, Vol.26 (5), p.653-666

2023

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

Endocrinologia y nutricion, 2013-01, Vol.60 (1), p.33-36

2013

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Highly sensitive detection of the MGB1 transcript (mammaglobin) in the peripheral blood of breast cancer patients

International journal of cancer, 2004-02, Vol.108 (4), p.592-595

2004

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

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

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

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

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

MSI phenotype and MMR alterations in familial and sporadic gastric cancer

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

Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report

Risk-reducing total gastrectomy in asymptomatic CDH1 carriers: Experience of a tertiary hospital

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

Cytologic and Cytogenetic Diagnosis of Pediatric Renal Cell Carcinoma Associated with t(X;17)

E-Cadherin ( CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients

No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin

Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome

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

Chromosomal changes in human primary testicular nonseminomatous germ cell tumors

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset

Cytogenetic analysis of ten human seminomas

Positive biochemical screening for trisomy 18: on the path of trisomy 9

Diagnostic criteria for the Brugada syndrome: can they be improved?

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

Critérios de diagnóstico da Síndrome de Brugada. Podemos melhorar?

Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer

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

Highly sensitive detection of the MGB1 transcript (mammaglobin) in the peripheral blood of breast cancer patients

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