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Prenatal sonographic diagnosis of isolated fetal ascites in cri‐du‐chat (5p‐) syndrome: A case report

Journal of clinical ultrasound, 2019-05, Vol.47 (4), p.232-234

2019

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DNA Methylation Is Correlated with Oxidative Stress in Myelodysplastic Syndrome—Relevance as Complementary Prognostic Biomarkers

Cancers, 2021-06, Vol.13 (13), p.3138

2021

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Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis

Molecular carcinogenesis, 2017-01, Vol.56 (1), p.130-148

2017

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Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease

Scientific reports, 2018-06, Vol.8 (1), p.9213-10, Article 9213

2018

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Enzyme immunoassays (EIA) for serodiagnosis of human leptospirosis: specific IgG3/IgG1 isotyping may further inform diagnosis of acute disease

PLoS neglected tropical diseases, 2022-02, Vol.16 (2), p.e0010241-e0010241

2022

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Human leptospirosis: seroreactivity and genetic susceptibility in the population of São Miguel Island (Azores, Portugal)

PloS one, 2014-09, Vol.9 (9), p.e108534-e108534

2014

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Seroprevalence of Protective Antibodies Against Influenza and the Reduction of the Influenza Incidence Rate: An Annual Repeated Cross‐Sectional Study From 2014 to 2019

Influenza and other respiratory viruses, 2024-05, Vol.18 (5), p.e13307-n/a

2024

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Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions

Developmental medicine and child neurology, 2007-10, Vol.49 (10), p.726-733

2007

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A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

International journal of endocrinology, 2018-01, Vol.2018, p.8470642-14

2018

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Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal)

PloS one, 2015-10, Vol.10 (10), p.e0140228-e0140228

2015

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MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2007-06, Vol.144B (4), p.475-483

2007

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A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract

Thyroid (New York, N.Y.), 2013-09, Vol.23 (9), p.1074

2013

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Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age

Clinical Medicine Insights: Case Reports, 2015-01, Vol.2015 (2015), p.93-96

2015

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Epidemiology and genetic variability of respiratory syncytial virus in Portugal, 2014–2018

Journal of clinical virology, 2019-12, Vol.121, p.104200-104200, Article 104200

2019

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Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Epilepsy research, 2007-08, Vol.76 (1), p.41-48

2007

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Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci

American journal of human biology, 2008-01, Vol.20 (1), p.118-120

2008

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Evaluation of linkage disequilibrium on the Xq13.3 region: Comparison between the Azores islands and mainland Portugal

American journal of human biology, 2008-05, Vol.20 (3), p.364-366

2008

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HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium

BMC research notes, 2010-05, Vol.3 (1), p.134-134, Article 134

2010

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Evaluation of reference-based two-color methods for measurement of gene expression ratios using spotted cDNA microarrays

BMC genomics, 2006-02, Vol.7 (1), p.35-35, Article 35

2006

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Transcriptional and translational mechanisms of cytochrome b5 reductase isoenzyme generation in humans

Biochemical journal, 2001-04, Vol.355 (Pt 2), p.529-535

2001

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Assessment of Azorean ancestry by Alu insertion polymorphisms

American journal of human biology, 2006-03, Vol.18 (2), p.223-226

2006

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Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores)

Thrombosis journal, 2009-06, Vol.7 (9), p.9-9, Article 9

2009

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Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese

Genetics and molecular biology, 2009-01, Vol.32 (2), p.220-226

2009

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Geography of surnames in the Azores: Specificity and spatial distribution analysis

American journal of human biology, 2005-09, Vol.17 (5), p.634-645

2005

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Clinical and Genetic Spectrum of Bartter Syndrome Type 3

Journal of the American Society of Nephrology, 2017-08, Vol.28 (8), p.2540-2552

2017

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Prenatal sonographic diagnosis of isolated fetal ascites in cri‐du‐chat (5p‐) syndrome: A case report

DNA Methylation Is Correlated with Oxidative Stress in Myelodysplastic Syndrome—Relevance as Complementary Prognostic Biomarkers

Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis

Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease

Enzyme immunoassays (EIA) for serodiagnosis of human leptospirosis: specific IgG3/IgG1 isotyping may further inform diagnosis of acute disease

Human leptospirosis: seroreactivity and genetic susceptibility in the population of São Miguel Island (Azores, Portugal)

Seroprevalence of Protective Antibodies Against Influenza and the Reduction of the Influenza Incidence Rate: An Annual Repeated Cross‐Sectional Study From 2014 to 2019

Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions

A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal)

MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract

Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age

Epidemiology and genetic variability of respiratory syncytial virus in Portugal, 2014–2018

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci

Evaluation of linkage disequilibrium on the Xq13.3 region: Comparison between the Azores islands and mainland Portugal

HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium

Evaluation of reference-based two-color methods for measurement of gene expression ratios using spotted cDNA microarrays

Transcriptional and translational mechanisms of cytochrome b5 reductase isoenzyme generation in humans

Assessment of Azorean ancestry by Alu insertion polymorphisms

Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores)

Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese

Geography of surnames in the Azores: Specificity and spatial distribution analysis

Clinical and Genetic Spectrum of Bartter Syndrome Type 3

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