Lista de obras - Mafalda Bourbon - Dominio Público Uruguay

A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing

article

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

artículo científico publicado en 2014

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

artículo científico publicado en 2017

Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia.

artículo científico publicado en 2014

Cardiovascular risk profile of high school students: a cross-sectional study.

artículo científico publicado en 2014

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

artículo científico publicado en 2015

Characterization of the First PCSK9 Gain of Function Homozygote

artículo científico publicado en 2015

ClinVar database of global familial hypercholesterolemia-associated DNA variants

artículo científico publicado en 2018

Clinical Genetic Testing for Familial Hypercholesterolemia

artículo científico publicado en 2018

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

artículo científico publicado en 2016

Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia

Familial hypercholesterolaemia in Portugal

artículo científico publicado en 2007

Familial hypercholesterolaemia: A global call to arms

artículo científico publicado en 2015

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

artículo científico publicado en 2014

Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de Ciudad Bolívar, Venezuela

artículo científico publicado en 2017

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

artículo científico publicado en 2009

Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

artículo científico publicado en 2014

Hepatitis B and C prevalence in Portugal: disparity between the general population and high-risk groups.

artículo científico publicado en 2016

How good is controlled attenuation parameter and fatty liver index for assessing liver steatosis in general population: correlation with ultrasound

artículo científico publicado en 2013

Hypercholesterolemia--a disease with expression from childhood.

artículo científico publicado en 2013

Immune cell changes in response to a swimming training session during a 24-h recovery period.

artículo científico publicado en 2016

Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia

article

In vitro functional characterization of missense mutations in the LDLR gene

artículo científico publicado en 2012

Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia

artículo científico publicado en 2017

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

artículo científico publicado en 2016

Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry

artículo científico publicado en 2017

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

artículo científico publicado en 2015

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

artículo científico publicado en 2013

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) ⬇️

artículo científico publicado en 2018

Pharmacogenetic profile of a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

artículo científico publicado en 2015

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

artículo científico publicado en 2016

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

artículo científico publicado en 2015

Update of the Portuguese Familial Hypercholesterolaemia Study

artículo científico publicado en 2010

Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations

artículo científico publicado en 2008

Lista de obras de Mafalda Bourbon

A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia.

Cardiovascular risk profile of high school students: a cross-sectional study.

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Characterization of the First PCSK9 Gain of Function Homozygote

ClinVar database of global familial hypercholesterolemia-associated DNA variants

Clinical Genetic Testing for Familial Hypercholesterolemia

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia

Familial hypercholesterolaemia in Portugal

Familial hypercholesterolaemia: A global call to arms

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de Ciudad Bolívar, Venezuela

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

Hepatitis B and C prevalence in Portugal: disparity between the general population and high-risk groups.

How good is controlled attenuation parameter and fatty liver index for assessing liver steatosis in general population: correlation with ultrasound

Hypercholesterolemia--a disease with expression from childhood.

Immune cell changes in response to a swimming training session during a 24-h recovery period.

Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia

In vitro functional characterization of missense mutations in the LDLR gene

Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) ⬇️

Pharmacogenetic profile of a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

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

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

Update of the Portuguese Familial Hypercholesterolaemia Study

Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations