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The TopoVIB-Like protein family is required for meiotic DNA double-strand break formation

Science (American Association for the Advancement of Science), 2016-02, Vol.351 (6276), p.943-949

2016

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Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?

Current atherosclerosis reports, 2023-04, Vol.25 (4), p.127-132

2023

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The need to create awareness towards cholesterol

Atherosclerosis, 2016-09, Vol.252, p.e3-e3

2016

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Cholesterol levels and glomerular filtration rate – Is there any association?

Atherosclerosis, 2016-09, Vol.252, p.e150-e150

2016

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E_LIPID: Characterization of the lipid profile in the Portuguese population

Atherosclerosis, 2016-09, Vol.252, p.e49-e49

2016

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Looks like FH but it's not FH – Extended lipid profile of paediatric clinical FH patients reveals a different lipid profile in FH negative patients

Atherosclerosis, 2016-09, Vol.252, p.e203-e204

2016

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Diabetic vascular disease and maturity-onset diabetes of the young

Atherosclerosis, 2016-09, Vol.252, p.e140-e140

2016

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Network analysis approach to find new candidate genes and pathways involved in the pathophysiology of familial hypercholesterolemia

Atherosclerosis, 2016-09, Vol.252, p.e50-e50

2016

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LDLR variant classification with ClinGen Familial Hypercholesterolemia variant curation expert panel specifications

Atherosclerosis, 2022-08, Vol.355, p.49-50

2022

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Construction of a new familial hypercholesterolaemia variant data base: A systematic review for a 2015 update

Atherosclerosis, 2016-09, Vol.252, p.e37-e38

2016

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Using percentiles to diagnose familial hypercholesterolemia in Portugal

Atherosclerosis, 2016-09, Vol.252, p.e33-e33

2016

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Characterization of the dyslipidaemia profile in Portugal

Atherosclerosis, 2015-07, Vol.241 (1), p.e134-e135

2015

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Mutational analysis of the Portuguese cohort with clinical diagnosis of FH

Atherosclerosis, 2015-07, Vol.241 (1), p.e112-e112

2015

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Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

Scientific reports, 2015-12, Vol.5 (1), p.18184-18184, Article 18184

2015

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Personalised medicine for familial hypercholesterolemia – Pilot study

Atherosclerosis, 2021-08, Vol.331, p.e166-e166

2021

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Apob/apoa1 ratio improves clinical criteria sensitivity for the identification of fh children

Atherosclerosis, 2014-08, Vol.235 (2), p.e64-e64

2014

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In silico classification of ldlr variants leads to misdiagnosis of fh patients

Atherosclerosis, 2014-08, Vol.235 (2), p.e197-e197

2014

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sdLDL/LDL ratio in familial combined hyperlipidaemia patients and familial hypercholesterolemia patients

Atherosclerosis, 2014-08, Vol.235 (2), p.e196-e196

2014

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Genotype/phenotype of FH patients: differences in childhood and adulthood

Atherosclerosis, 2014-08, Vol.235 (2), p.e197-e197

2014

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Inverse correlation between homocysteine and HDL-C

Atherosclerosis, 2014-08, Vol.235 (2), p.e196-e196

2014

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Cardiovascular risk factors in a young adult population

Atherosclerosis, 2014-08, Vol.235 (2), p.e286-e287

2014

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Pharmacogenomics of dyslipidaemia drugs in Portugal

Atherosclerosis, 2020-12, Vol.315, p.e275-e275

2020

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Dunnigan-type familial partial lipodystrophy in a large Portuguese kindred

Atherosclerosis, 2015-07, Vol.241 (1), p.e116-e116

2015

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Update of the Portuguese Familial Hypercholesterolaemia Study

Atherosclerosis, 2010-10, Vol.212 (2), p.553-558

2010

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Totally extraperitoneal (TEP) endoscopic inguinal hernia repair with TAP (transversus abdominis plane) block as a day-case: A prospective cohort study

Journal of visceral surgery, 2015-06, Vol.152 (3), p.155-159

2015

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The TopoVIB-Like protein family is required for meiotic DNA double-strand break formation

Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?

The need to create awareness towards cholesterol

Cholesterol levels and glomerular filtration rate – Is there any association?

E_LIPID: Characterization of the lipid profile in the Portuguese population

Looks like FH but it's not FH – Extended lipid profile of paediatric clinical FH patients reveals a different lipid profile in FH negative patients

Diabetic vascular disease and maturity-onset diabetes of the young

Network analysis approach to find new candidate genes and pathways involved in the pathophysiology of familial hypercholesterolemia

LDLR variant classification with ClinGen Familial Hypercholesterolemia variant curation expert panel specifications

Construction of a new familial hypercholesterolaemia variant data base: A systematic review for a 2015 update

Using percentiles to diagnose familial hypercholesterolemia in Portugal

Characterization of the dyslipidaemia profile in Portugal

Mutational analysis of the Portuguese cohort with clinical diagnosis of FH

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

Personalised medicine for familial hypercholesterolemia – Pilot study

Apob/apoa1 ratio improves clinical criteria sensitivity for the identification of fh children

In silico classification of ldlr variants leads to misdiagnosis of fh patients

sdLDL/LDL ratio in familial combined hyperlipidaemia patients and familial hypercholesterolemia patients

Genotype/phenotype of FH patients: differences in childhood and adulthood

Inverse correlation between homocysteine and HDL-C

Cardiovascular risk factors in a young adult population

Pharmacogenomics of dyslipidaemia drugs in Portugal

Dunnigan-type familial partial lipodystrophy in a large Portuguese kindred

Update of the Portuguese Familial Hypercholesterolaemia Study

Totally extraperitoneal (TEP) endoscopic inguinal hernia repair with TAP (transversus abdominis plane) block as a day-case: A prospective cohort study

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