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A PCSK9 variant and familial combined hyperlipidaemia

Journal of medical genetics, 2008-12, Vol.45 (12), p.780-786

2008

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Genetic heterogeneity of autosomal dominant hypercholesterolemia

Clinical genetics, 2008-01, Vol.73 (1), p.1-13

2008

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

American journal of human genetics, 1993-05, Vol.52 (5), p.875-883

1993

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Nasopharyngeal carriage of SARS-CoV-2 among health personnel with symptoms suggestive of COVID-19 in a University Hospital in the Paris suburbs

La revue de medecine interne, 2020-08, Vol.41 (8), p.510-516

2020

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Évaluation par RT-PCR du portage nasopharyngé du SARS-Cov-2 chez les personnels de santé symptomatiques suspects de COVID-19 dans un CHU de la banlieue parisienne

La revue de medecine interne, 2020-08, Vol.41 (8), p.510-516

2020

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

Atherosclerosis, 2009-04, Vol.203 (2), p.449-453

2009

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Familial hypercholesterolemia: A largely underestimated cardiovascular risk

Annales de cardiologie et d'angeiologie, 2018-02, Vol.67 (1), p.1-8

2018

Volltextzugriff (PDF)

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

Human molecular genetics, 1993-08, Vol.2 (8), p.1263-1266

1993

Volltextzugriff (PDF)

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

Clinica chimica acta, 2008-06, Vol.392 (1), p.25-29

2008

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A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

American journal of human genetics, 1999-05, Vol.64 (5), p.1378-1387

1999

Volltextzugriff (PDF)

Molecular spectrum of PCSK9-based FH in FRANCE, The French P.(SER127ARG) founder variant

Atherosclerosis, 2021-08, Vol.331, p.e213-e214

2021

Volltextzugriff (PDF)

Prevalence of familial hypercholesterolemia in patients presenting with premature acute coronary syndrome

European heart journal, 2021-10, Vol.42 (Supplement_1)

2021

Volltextzugriff (PDF)

Software and database for the analysis of mutations in the human LDL receptor gene

Nucleic acids research, 1997-01, Vol.25 (1), p.172

1997

Volltextzugriff (PDF)

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

Clinica chimica acta, 2006-11, Vol.373 (1), p.62-69

2006

Volltextzugriff (PDF)

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

Clinical genetics, 2004-02, Vol.65 (2), p.158-161

2004

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

The Lancet (British edition), 1993-01, Vol.341 (8839), p.237-237

1993

Volltextzugriff (PDF)

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

Annales d'endocrinologie, 2007-06, Vol.68 (2-3), p.138-146

2007

Volltextzugriff (PDF)

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

Arteriosclerosis, thrombosis, and vascular biology, 2000-10, Vol.20 (10), p.E76

2000

Volltextzugriff (PDF)

SFP-P057 – Hépatologie, gastro-entérologie et nutrition – La maladie d’Anderson : identification d’une nouvelle mutation du gène SARA2

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2008-06, Vol.15 (5), p.961-961

2008

Volltextzugriff (PDF)

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Nature genetics, 2003-06, Vol.34 (2), p.154-156

2003

Volltextzugriff (PDF)

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

Journal of clinical lipidology, 2019-01, Vol.13 (1), p.201-212

2019

Volltextzugriff (PDF)

Hypercholestérolémie familiale : un risque cardiovasculaire largement sous-estimé

Annales de cardiologie et d'angéiologie, 2018-02, Vol.67 (1), p.1-8

2018

Volltextzugriff (PDF)

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

Journal of medical genetics, 1994-01, Vol.31 (1), p.33-36

1994

Volltextzugriff (PDF)

High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry

Atherosclerosis, 2018-10, Vol.277, p.334-340

2018

Volltextzugriff (PDF)

Involvement of U2-spliceosome in autosomal dominant hypercholesterolemia

Atherosclerosis, 2023-08, Vol.379, p.S16-S17

2023

Volltextzugriff (PDF)

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A PCSK9 variant and familial combined hyperlipidaemia

Genetic heterogeneity of autosomal dominant hypercholesterolemia

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

Nasopharyngeal carriage of SARS-CoV-2 among health personnel with symptoms suggestive of COVID-19 in a University Hospital in the Paris suburbs

Évaluation par RT-PCR du portage nasopharyngé du SARS-Cov-2 chez les personnels de santé symptomatiques suspects de COVID-19 dans un CHU de la banlieue parisienne

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

Familial hypercholesterolemia: A largely underestimated cardiovascular risk

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

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

A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

Molecular spectrum of PCSK9-based FH in FRANCE, The French P.(SER127ARG) founder variant

Prevalence of familial hypercholesterolemia in patients presenting with premature acute coronary syndrome

Software and database for the analysis of mutations in the human LDL receptor gene

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

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

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

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

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

SFP-P057 – Hépatologie, gastro-entérologie et nutrition – La maladie d’Anderson : identification d’une nouvelle mutation du gène SARA2

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

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

Hypercholestérolémie familiale : un risque cardiovasculaire largement sous-estimé

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

High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry

Involvement of U2-spliceosome in autosomal dominant hypercholesterolemia

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