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CFH Y402H and ARMS2 A69S Polymorphisms and Oral Supplementation with Docosahexaenoic Acid in Neovascular Age-Related Macular Degeneration Patients: The NAT2 Study.
Published in:
PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0130816
By:
- Merle, Bénédicte M. J.;
- Richard, Florence;
- Benlian, Pascale;
- Puche, Nathalie;
- Delcourt, Cécile;
- Souied, Eric H.
Publication type:
Article
rs5888 Variant of SCARB1 Gene Is a Possible Susceptibility Factor for Age-Related Macular Degeneration.
Published in:
PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007341
By:
- Zerbib, Jennyfer;
- Seddon, Johanna M.;
- Richard, Florence;
- Reynolds, Robyn;
- Leveziel, Nicolas;
- Benlian, Pascale;
- Borel, Patrick;
- Feingold, Josué;
- Munnich, Arnold;
- Soubrane, Gisèle;
- Kaplan, Josseline;
- Rozet, Jean-Michel;
- Souied, Eric H.
Publication type:
Article
Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study.
Published in:
2001
By:
- Viola, Sheila;
- Benlian, Pascale;
- Morali, Alain;
- Dobbelaere, Dries;
- Lacaille, Florence;
- Rieu, Daniel;
- Ginies, Jean Louis;
- Maurage, Chantal;
- Meyer, Martine;
- Lachaux, Alain;
- Larchet, Michel;
- Lenearts, Catherine;
- Goulet, Olivier;
- Sarles, Jacques;
- Mouterde, Olivier;
- Girardet, Jean Philippe;
- Viola, S;
- Benlian, P;
- Morali, A;
- Dobbelaere, D
Publication type:
journal article
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
Published in:
Human Genetics, 2002, v. 111, n. 6, p. 501, doi. 10.1007/s00439-002-0813-4
By:
- Amsellem, Sabine;
- Briffaut, Dorothée;
- Carrié, Alain;
- Rabès, Jean Pierre;
- Girardet, Jean Philippe;
- Fredenrich, Alexandre;
- Moulin, Philippe;
- Krempf, Michel;
- Reznik, Yves;
- Vialettes, Bernard;
- Luc de Gennes, Jean;
- Brukert, Eric;
- Benlian, Pascale
Publication type:
Article
Administration of the High-Density Lipoprotein Mimetic CER-001 for Inherited Lecithin-Cholesterol Acyltransferase Deficiency.
Published in:
2021
By:
- Faguer, Stanislas;
- Colombat, Magali;
- Chauveau, Dominique;
- Bernadet-Monrozies, Pauline;
- Beq, Audrey;
- Delas, Audrey;
- Soler, Vincent;
- Labadens, Isabelle;
- Huart, Antoine;
- Benlian, Pascale;
- Schanstra, Joost P.
Publication type:
Case Study
Ontology-guided data preparation for discovering genotype-phenotype relationships.
Published in:
BMC Bioinformatics, 2008, v. 9, p. 1, doi. 10.1186/1471-2105-09-S4-S3
By:
- Coulet, Adrien;
- Smaïl-Tabbone, Malika;
- Benlian, Pascale;
- Napoli, Amedeo;
- Devignes, Marie-Dominique
Publication type:
Article
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Published in:
Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1119, doi. 10.1007/s10545-012-9461-6
By:
- Michot, Caroline;
- Hubert, Laurence;
- Romero, Norma;
- Gouda, Amr;
- Mamoune, Asmaa;
- Mathew, Suja;
- Kirk, Edwin;
- Viollet, Louis;
- Rahman, Shamima;
- Bekri, Soumeya;
- Peters, Heidi;
- McGill, James;
- Glamuzina, Emma;
- Farrar, Michelle;
- Hagen, Maya;
- Alexander, Ian;
- Kirmse, Brian;
- Barth, Magalie;
- Laforet, Pascal;
- Benlian, Pascale
Publication type:
Article
Dynamic Drusen Remodelling in Participants of the Nutritional AMD Treatment-2 (NAT-2) Randomized Trial.
Published in:
PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149219
By:
- Querques, Giuseppe;
- Merle, Bénédicte M. J.;
- Pumariega, Nicole M.;
- Benlian, Pascale;
- Delcourt, Cécile;
- Zourdani, Alain;
- Leisy, Heather B.;
- Lee, Michele D.;
- Smith, R. Theodore;
- Souied, Eric H.
Publication type:
Article
Diagnosis scoring for clinical identification of children with heterozygous familial hypercholesterolemia.
Published in:
2009
By:
- Benlian P;
- Turquet A;
- Carrat F;
- Amsellem S;
- Sanchez L;
- Briffaut D;
- Girardet JP;
- Benlian, Pascale;
- Turquet, Anne;
- Carrat, Fabrice;
- Amsellem, Sabine;
- Sanchez, Lydie;
- Briffaut, Dorothée;
- Girardet, Jean Philippe
Publication type:
journal article
[InlineMediaObject not available: see fulltext.]European Guidelines on Cardiovascular Disease Prevention in Clinical Practice (Version 2012)
Published in:
2012
By:
- Perk, Joep;
- Backer, Guy;
- Gohlke, Helmut;
- Graham, Ian;
- Reiner, Željko;
- Verschuren, W.;
- Albus, Christian;
- Benlian, Pascale;
- Boysen, Gudrun;
- Cifkova, Renata;
- Deaton, Christi;
- Ebrahim, Shah;
- Fisher, Miles;
- Germano, Giuseppe;
- Hobbs, Richard;
- Hoes, Arno;
- Karadeniz, Sehnaz;
- Mezzani, Alessandro;
- Prescott, Eva;
- Ryden, Lars
Publication type:
Journal Article
[InlineMediaObject not available: see fulltext.]European Guidelines on Cardiovascular Disease Prevention in Clinical Practice (Version 2012).
Published in:
International Journal of Behavioral Medicine, 2012, v. 19, n. 4, p. 403, doi. 10.1007/s12529-012-9242-5
By:
- Perk, Joep;
- Backer, Guy;
- Gohlke, Helmut;
- Graham, Ian;
- Reiner, Željko;
- Verschuren, W.;
- Albus, Christian;
- Benlian, Pascale;
- Boysen, Gudrun;
- Cifkova, Renata;
- Deaton, Christi;
- Ebrahim, Shah;
- Fisher, Miles;
- Germano, Giuseppe;
- Hobbs, Richard;
- Hoes, Arno;
- Karadeniz, Sehnaz;
- Mezzani, Alessandro;
- Prescott, Eva;
- Ryden, Lars
Publication type:
Article
ClinVar database of global familial hypercholesterolemia‐associated DNA variants.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1631, doi. 10.1002/humu.23634
By:
- Iacocca, Michael A.;
- Chora, Joana R.;
- Carrié, Alain;
- Freiberger, Tomáš;
- Leigh, Sarah E.;
- Defesche, Joep C.;
- Kurtz, C. Lisa;
- DiStefano, Marina T.;
- Santos, Raul D.;
- Humphries, Steve E.;
- Mata, Pedro;
- Jannes, Cinthia E.;
- Hooper, Amanda J.;
- Wilemon, Katherine A.;
- Benlian, Pascale;
- O'Connor, Robert;
- Garcia, John;
- Wand, Hannah;
- Tichy, Lukáš;
- Sijbrands, Eric J.
Publication type:
Article
Erratum: Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
Published in:
Human Mutation, 2005, v. 26, n. 6, p. 592, doi. 10.1002/humu.9386
By:
- Allard, Delphine;
- Amsellem, Sabine;
- Abifadel, Marianne;
- Trillard, Mélanie;
- Devillers, Martine;
- Luc, Gérald;
- Krempf, Michel;
- Reznik, Yves;
- Girardet, Jean-Philippe;
- Fredenrich, Alexandre;
- Junien, Claudine;
- Varret, Mathilde;
- Boileau, Catherine;
- Benlian, Pascale;
- Rabès, Jean-Pierre
Publication type:
Article
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
Published in:
Human Mutation, 2005, v. 26, n. 5, p. 497, doi. 10.1002/humu.9383
By:
- Allard, Delphine;
- Amsellem, Sabine;
- Abifadel, Marianne;
- Trillard, Mélanie;
- Devillers, Martine;
- Luc, Gérald;
- Krempf, Michel;
- Reznik, Yves;
- Girardet, Jean-Philippe;
- Fredenrich, Alexandre;
- Junien, Claudine;
- Varret, Mathilde;
- Boileau, Catherine;
- Benlian, Pascale;
- Rabès, Jean-Pierre
Publication type:
Article
European Guidelines on cardiovascular disease prevention in clinical practice (version 2012).
Published in:
European Heart Journal, 2012, v. 33, n. 14, p. 1635
By:
- Perk, Joep;
- De Backer, Guy;
- Gohlke, Helmut;
- Graham, Ian;
- Reiner, Željko;
- Verschuren, Monique;
- Albus, Christian;
- Benlian, Pascale;
- Boysen, Gudrun;
- Cifkova, Renata;
- Deaton, Christi;
- Ebrahim, Shah;
- Fisher, Miles;
- Germano, Giuseppe;
- Hobbs, Richard;
- Hoes, Arno;
- Karadeniz, Sehnaz;
- Mezzani, Alessandro;
- Prescott, Eva;
- Ryden, Lars
Publication type:
Article
Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia.
Published in:
Human Mutation, 1998, v. 11, p. S141, doi. 10.1002/humu.1380110148
By:
- Foubert, Luc;
- De Gennes, Jean Luc;
- Benlian, Pascale;
- Truffert, Jacqueline;
- Miao, Li;
- Hayden, Michael R.
Publication type:
Article
A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.
Published in:
Human Mutation, 1997, v. 10, n. 3, p. 179, doi. 10.1002/(SICI)1098-1004(1997)10:3<179::AID-HUMU1>3.0.CO;2-E
By:
- Foubert, Luc;
- Bruin, Taco;
- Gennes, Jean Luc De;
- Ehrenborg, Ewa;
- Furioli, Jean;
- Kastelein, John;
- Benlian, Pascale;
- Hayden, Michael
Publication type:
Article
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.
Published in:
Human Mutation, 1996, v. 7, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C
By:
- Benlian, Pascale;
- de Gennes, Jean Luc;
- Dairou, François;
- Hermelin, Brigitte;
- Ginon, Isabelle;
- Villain, Elizabeth;
- Lagarde, Jean Pierre;
- Federspiel, Marie Christine;
- Bertrand, Véronique;
- Bernard, Chantal;
- Bereziat, Gilbert
Publication type:
Article
Recurrent missense mutations at the first and second base of codon Arg<sup>243</sup> in human lipoprotein lipase in patients of different ancestries.
Published in:
Human Mutation, 1994, v. 3, n. 1, p. 52, doi. 10.1002/humu.1380030109
By:
- Ma, Yuanhong;
- Liu, Ming-Sun;
- Chitayat, David;
- Bruin, Taco;
- Beisiegel, Ulrike;
- Benlian, Pascale;
- Foubert, Luc;
- De Gennes, Jean Luc;
- Funke, Harald;
- Forsythe, Ian;
- Blaichman, Shirley;
- Papanikolaou, Maria;
- Erkelens, D. W.;
- Kastelein, John;
- Brunzell, John D.;
- Hayden, Michael R.
Publication type:
Article
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.
Published in:
Nutrients, 2021, v. 13, n. 10, p. 3347, doi. 10.3390/nu13103347
By:
- Schnebelen-Berthier, Coralie;
- Acar, Niyazi;
- Simon, Emilie;
- Thabuis, Clémentine;
- Bourdillon, Anne;
- Mathiaud, Adeline;
- Dauchet, Luc;
- Delcourt, Cécile;
- Benlian, Pascale;
- Crochet, Martine;
- Defoort, Sabine;
- Tailleux, Anne;
- Staels, Bart;
- Bretillon, Lionel;
- Lecerf, Jean-Michel
Publication type:
Article
Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.
Published in:
2024
By:
- Bonnot Ruget, Mathilde;
- Moulin, Philippe;
- Pagan, Cécile;
- Cheillan, David;
- Marmontel, Oriane;
- Raverot, Gerald;
- Benlian, Pascale;
- Di Filippo, Mathilde
Publication type:
Letter

Found: 21