Lista de obras - Jean-Pierre Rabès - Dominio Público Uruguay

A PCSK9 variant and familial combined hyperlipidaemia.

artículo científico publicado en 2008

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

artículo científico publicado en 2010

A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.

artículo científico publicado en 2008

After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9

artículo científico publicado en 2007

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

artículo científico publicado en 2000

C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome

scientific article published on 01 August 2007

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

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

artículo científico publicado en 2012

Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy

artículo científico publicado en 1993

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients

artículo científico publicado en 2012

Exome sequencing in suspected monogenic dyslipidemias

artículo científico publicado en 2015

Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.

artículo científico publicado en 2003

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion

artículo científico publicado en 1994

Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico

artículo científico publicado en 2006

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

artículo científico publicado en 2007

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.

artículo científico publicado en 2012

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

artículo científico publicado en 2012

Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method

artículo científico publicado en 2004

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

artículo científico publicado en 2002

Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

artículo científico publicado en 2008

Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs

artículo científico publicado en 2014

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

artículo científico publicado en 2012

Molecular spectrum of autosomal dominant hypercholesterolemia in France

artículo científico publicado en 2010

Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

artículo científico publicado en 2006

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

artículo científico publicado en 2009

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

artículo científico publicado en 2003

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

artículo científico publicado en 1993

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

artículo científico publicado en 1993

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

artículo científico publicado en 2018

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

artículo científico publicado en 2005

PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk

artículo científico publicado en 2014

Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families

artículo científico publicado en 2018

Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015).

artículo científico publicado en 2016

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

artículo científico publicado en 2000

Resistance to high-fat diet in the female progeny of obese mice fed a control diet during the periconceptual, gestation, and lactation periods.

artículo científico publicado en 2006

Single point mutation at Arg506 of factor V associated with APC resistance and venous thromboembolism: improved detection by PCR-mediated site-directed mutagenesis.

artículo científico publicado en 1995

Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents

artículo científico publicado en 2010

The UMD-LDLR database: additions to the software and 490 new entries to the database.

artículo científico publicado en 2002

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene

artículo científico publicado en 2009

Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

artículo científico publicado en 2018

[Anti-PCSK9 in coronary artery disease: genetic progress, therapeutic approaches]

artículo científico publicado en 2015

[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis]

artículo científico publicado en 2006

Lista de obras de Jean-Pierre Rabès

A PCSK9 variant and familial combined hyperlipidaemia.

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.

After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome

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

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients

Exome sequencing in suspected monogenic dyslipidemias

Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion

Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Molecular spectrum of autosomal dominant hypercholesterolemia in France

Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk

Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families

Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015).

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

Resistance to high-fat diet in the female progeny of obese mice fed a control diet during the periconceptual, gestation, and lactation periods.

Single point mutation at Arg506 of factor V associated with APC resistance and venous thromboembolism: improved detection by PCR-mediated site-directed mutagenesis.

Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents

The UMD-LDLR database: additions to the software and 490 new entries to the database.

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene

Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

[Anti-PCSK9 in coronary artery disease: genetic progress, therapeutic approaches]

[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis]