P. Benlian

发表

European Guidelines on Cardiovascular Disease Prevention in Clinical Practice (Version 2012)

Shah Ebrahim, Ian Graham, Jose Luis Zamorano, 2012, International Journal of Behavioral Medicine.

Complete List of Publications

S. Mandrup, M. Chavent, P. Bladon, 2010 .

Response by sex to statin plus ezetimibe or statin monotherapy: A pooled analysis of 22,231 hyperlipidemic patients

B. Abramson, P. Benlian, M. Hanson, 2011, Lipids in Health and Disease.

Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.

M. Hayden, L. Foubert, P. Benlian, 1996, The New England journal of medicine.

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana

G. Thomas, G. Béréziat, P. Benlian, 1995, Human Genetics.

Rapid communication Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa

A. Munnich, E. Souied, G. Coscas, 1998 .

Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa

A. Munnich, E. Souied, G. Soubrane, 1998, Vision Research.

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B‐100

G. Béréziat, E. Villain, P. Benlian, 1996, Human mutation.

PCSK9 Dominant Negative Mutant Results in Increased LDL Catabolic Rate and Familial Hypobetalipoproteinemia

M. Krempf, R. Guérois, C. Langhi, 2009, Arteriosclerosis, thrombosis, and vascular biology.

ClinVar database of global familial hypercholesterolemia‐associated DNA variants

Marina T. DiStefano, J. Knowles, S. Humphries, 2018, Human mutation.

Nutritional AMD Treatment Phase I (NAT-1): Feasibility of Oral DHA Supplementation in Age-Related Macular Degeneration

E. Souied, G. Soubrane, G. Coscas, 2009, European journal of ophthalmology.

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

C. Junien, M. Krempf, G. Luc, 2005, Human mutation.

The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration.

A. Munnich, P. Amouyel, E. Souied, 1998, American journal of ophthalmology.

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

M. Krempf, J. Ferrières, E. Bruckert, 2018, Atherosclerosis.

Diagnosis Scoring for Clinical Identification of Children With Heterozygous Familial Hypercholesterolemia

F. Carrat, J. Girardet, S. Amsellem, 2009, Journal of pediatric gastroenterology and nutrition.

UvA-DARE ( Digital Academic Repository ) A single Ser 259 Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

M. Hayden, J. Kastelein, L. Foubert, 1997 .

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

M. Hayden, J. Kastelein, L. Foubert, 1997, Human mutation.

Assessment of French patients with LPL deficiency for French Canadian mutations.

M. Hayden, L. Foubert, J. Girardet, 1997, Journal of medical genetics.

Magnitude of HDL Cholesterol Variation After High-Dose Atorvastatin Is Genetically Determined at the LDL Receptor Locus in Patients With Homozygous Familial Hypercholesterolemia

E. Bruckert, I. Beucler, S. Amsellem, 2003, Arteriosclerosis, thrombosis, and vascular biology.

Development of new quantitative mass spectrometry and semi-automatic isofocusing methods for the determination of Apolipoprotein E typing.

S. Lehmann, A. Gabelle, J. Vialaret, 2016, Clinica chimica acta; international journal of clinical chemistry.

Circulating omega-3 Fatty acids and neovascular age-related macular degeneration.

E. Souied, C. Delcourt, A. Bassols, 2014, Investigative ophthalmology & visual science.

The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration

A. Munnich, P. Amouyel, E. Souied, 1998 .

Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families.

A. Soutar, V. Clavey, S. Lestavel, 2001, Atherosclerosis.

Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144.

J. W. Chisholm, M. Savoldelli, P. Benlian, 1999, Atherosclerosis.

Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early‐onset chylomicronemia

M. Hayden, L. Foubert, L. Miao, 1998, Human mutation.

Compound Heterozygosity for Frameshift Mutations in the Gene for Lipoprotein Lipase in a Patient nset Chylomicronernia

M. Hayden, L. Foubert, L. Miao, 1998 .

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

M. Hayden, S. Langlois, L. Foubert, 1996, American journal of human genetics.

Platelet cytosolic free calcium concentration in primary hypertension.

P. Benlian, M. Devynck, K. le Quan Sang, 1985, Journal of hypertension. Supplement : official journal of the International Society of Hypertension.

Relationship between lipoprotein lipase and high density lipoprotein cholesterol in mice: modulation by cholesteryl ester transfer protein and dietary status.

M. Hayden, G. Shen, L. Miao, 1997, Journal of lipid research.

Recurrent mutation at aa 792 in the LDL receptor gene in a French patient

C. Junien, C. Boileau, L. Monnier, 1991, Human Genetics.

CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia

J. Fruchart, V. Clavey, S. Lestavel, 2002, Journal of medical genetics.

Combined hyperlipidemia/hyperalphalipoproteinemia associated with premature spontaneous atherosclerosis in mice lacking hepatic lipase and low density lipoprotein receptor.

M. Darmon, A. Bérard, D. Daret, 2006, Atherosclerosis.

Extended haplotypes and linkage disequilibrium between 11 markers at the APOA1-C3-A4 gene cluster on chromosome 11.

J. Ruidavets, C. Boileau, P. Benlian, 1991, American journal of human genetics.

Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method

C. Junien, B. Dastugue, C. Boileau, 1992, Human mutation.

1.P.26 Prevalence of common lipoprotein lipase (LPL) gene mutation Ser447Stop is increased while prevalence of Asn291Ser mutation is decreased in centenarians

H. Zouali, G. Béréziat, P. Benlian, 1997 .

Major Hypertriglyceridemia in HIV-Infected Patients on Antiretroviral Therapy: A Role of the Personal and Family History

M. Guiguet, J. Meynard, P. Benlian, 2004, Infection.

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

Y. Ville, A. Laquérriere, A. Verloes, 2012, European journal of medical genetics.

[European Guidelines on cardiovascular disease prevention in clinical practice (version 2012)].

Shah Ebrahim, Ian Graham, Jose Luis Zamorano, 2013, Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir.

Identification of the haplotype associated with the APOB‐3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation

C. Junien, C. Boileau, P. Benlian, 1993, Human mutation.

Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families.

C. Junien, I. Beucler, P. Benlian, 1991, The Journal of clinical investigation.

Sustained Increase of HDL Cholesterol Over a 72-Week Period in HIV-Infected Patients Exposed to an Antiretroviral Regimen Including Lopinavir/Ritonavir

J. Poirier, K. Lacombe, P. Benlian, 2008, Journal of the International Association of Physicians in AIDS Care.

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

A. Munnich, A. Mamoune, S. Rahman, 2012, Journal of Inherited Metabolic Disease.

Genes of Lipoprotein Metabolism

P. Benlian, 2001 .

DHA supplementation for late onset Stargardt disease: NAT-3 study

E. Souied, G. Soubrane, G. Coscas, 2010, Clinical ophthalmology.

[Genetic factors associated with age-related macular degeneration].

E. Souied, G. Soubrane, G. Coscas, 2010, Medecine sciences : M/S.

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

M. Krempf, P. Moulin, J. Girardet, 2002, Human Genetics.

Genetics of Dyslipidemia

P. Benlian, 2012, Basic Science for the Cardiologist.

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

X. Estivill, P. Talmud, D. Labuda, 2007, Journal of Medical Genetics.

Combination of apolipoprotein E2 and lipoprotein lipase heterozygosity causes severe hypertriglyceridemia during pregnancy.

A. Bongain, P. Benlian, S. Hiéronimus, 2005, Diabetes & metabolism.

Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.

D. Lacombe, C. Wolf, A. Taïeb, 2011, Archives of dermatology.

rs5888 Variant of SCARB1 Gene Is a Possible Susceptibility Factor for Age-Related Macular Degeneration

A. Munnich, E. Souied, G. Soubrane, 2009, PloS one.

Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes.

E. Souied, G. Soubrane, G. Coscas, 2008, Investigative ophthalmology & visual science.

PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.

E. Souied, G. Soubrane, G. Coscas, 2007, Molecular vision.

Familial acromegaly: a specific clinical entity--further evidence from the genetic study of a three-generation family.

A. Calender, C. Blin, S. Giraud, 1995, European journal of endocrinology.

Cholesteryl ester storage disease: a predominant lipa genotype underlies disease manifestations and progression - A review of 12 french cases.

F. Gottrand, N. Peretti, T. Levade, 2014 .

[Epidemiology of age related macular degeneration].

E. Souied, G. Soubrane, G. Coscas, 2009, Journal Francais d'Ophtalmologie.

Ethnic variation and in vivo effects of the -93t-->g promoter variant in the lipoprotein lipase gene.

M. Hayden, J. Ordovás, J. Kastelein, 1997, Arteriosclerosis, thrombosis, and vascular biology.

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

A. Munnich, E. Souied, G. Soubrane, 1996, American journal of ophthalmology.

Apolipoprotein A-I kinetics in heterozygous familial hypercholesterolemia: a stable isotope study.

T Magot, M. Krempf, J. Marchini, 1999, Journal of lipid research.

Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population.

E. Souied, G. Soubrane, G. Coscas, 2005, Molecular vision.

Comparison of a new method for the direct and simultaneous assessment of LDL- and HDL-cholesterol with ultracentrifugation and established methods.

F. Carrat, G. Béréziat, O. Chazouilleres, 2000, Clinical chemistry.

[Characteristic pathological associations in multiple endocrine neoplasia type 1].

P. Benlian, J. Chigot, G. Turpin, 1996, Presse medicale.

Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology Consortia.

Christine Binquet, Elena Prokofyeva, Usha Chakravarthy, 2018, Ophthalmology.

Increased High Density Lipoprotein-levels associated with Age-related Macular degeneration. Evidence from the EYE-RISK and E3 Consortia

C. M. van Duijn, H. Hense, C. Klaver, 2018 .

CFH Y402H and ARMS2 A69S Polymorphisms and Oral Supplementation with Docosahexaenoic Acid in Neovascular Age-Related Macular Degeneration Patients: The NAT2 Study

E. Souied, C. Delcourt, F. Richard, 2015, PloS one.

Extended Haplotypes and Linkage Disequilibrium between I I Markers at the APOA IC 3-A 4 Gene Cluster on Chromosome

C. Junien, G., J., 2006 .

Assessment ofFrench patients withLPL deficiency forFrench Canadian mutations

M. Hayden, J. Girardet, P. Benlian, 1997 .

Oral docosahexaenoic acid in the prevention of exudative age-related macular degeneration: the Nutritional AMD Treatment 2 study.

E. Souied, C. Delcourt, Theodore Smith, 2013, Ophthalmology.

Genotypic influences on severity of exudative age-related macular degeneration.

J. Sahel, E. Souied, G. Soubrane, 2010, Investigative ophthalmology & visual science.

CANDIDATE GENE APPROACH TO TYPE IIa HYPERCHOLESTEROLAEMIA

C. Junien, P. Benlian, P. Douste-Blazy, 1989, The Lancet.

Dynamic Drusen Remodelling in Participants of the Nutritional AMD Treatment-2 (NAT-2) Randomized Trial

R. T. Smith, E. Souied, C. Delcourt, 2016, PloS one.

The ALGOVUE Clinical Trial: Effects of the Daily Consumption of Eggs Enriched with Lutein and Docosahexaenoic Acid on Plasma Composition and Macular Pigment Optical Density

J. Lecerf, L. Dauchet, C. Delcourt, 2021, Nutrients.

[New progress and new tools for the study of molecular genetics in dyslipoproteinemia].

P. Benlian, 2001, Bulletin de l'Academie nationale de medecine.

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

M. Hayden, J. Kastelein, D. Chitayat, 1994, Human mutation.

Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele.

M. Hayden, J. Frohlich, S. Pimstone, 1997, Atherosclerosis.

Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.

L. Foubert, J. Hamelin, D. Brault, 1995, Journal of lipid research.

Apolipoprotein E polymorphism, a marker of disease severity in primary biliary cirrhosis?

O. Chazouilleres, C. Corpechot, V. Barbu, 2001, Journal of hepatology.

[Epidemiology of age related macular degeneration].

E. Souied, G. Soubrane, G. Coscas, 2009, Journal francais d'ophtalmologie.

Uva-dare (digital Academic Repository) a Single Ser 259arg Mutation in the Gene for Lipoprotein Lipase Causes Chylomicronemia in Moroccans of Berber Ancestry a Single Ser259arg Mutation in the Gene for Lipoprotein Lipase Causes Chylomicronemia in Moroccans of Berber Ancestry

J. Kastelein, L. Foubert, P. Benlian, 2022 .

SNP-Converter: An Ontology-Based Solution to Reconcile Heterogeneous SNP Descriptions for Pharmacogenomic Studies

Amedeo Napoli, Adrien Coulet, Marie-Dominique Devignes, 2006, DILS.

Apolipoprotein B Arg3500Gln Mutation Prevalence in Children With Hypercholesterolemia: A French Multicenter Study

J. Sarles, O. Goulet, J. Girardet, 2001, Journal of pediatric gastroenterology and nutrition.

European Guidelines on Cardiovascular Disease Prevention in Clinical Practice (Version 2012)

A. Hoes, J. Zamorano, F. Zannad, 2012, International Journal of Behavioral Medicine.

Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes.

E. Souied, G. Soubrane, G. Coscas, 2008, Investigative ophthalmology & visual science.