Pascale Benlian

chu dijon bourgogne

H指数:33

被引数:1.3万

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Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions

基因组新生儿筛查作为罕见病管理范式的转变，重点在于内分泌状况

Annales d Endocrinologie

IF2.9

2026-04-010

PRE

Faivre, Laurence; Level, Camille; Coutant, Regis; Rodien, Patrice; Barlier, Anne; Saveanu, Alexandru; Bouvattier, Claire; Bretones, Patricia; Martinerie, Laetitia; Rossignol, Sylvie; Lenelle, Camille; Roucher, Florence; Binquet, Christine; Pasquier, Laurent; Davoine, Emeline; Cormier, Coline; Bournez, Marie; Maudinas, Raphaelle; Gonnot, Maxime; Lefevre, Augustin; Maraval, Julien; Safraou, Hana; Duffourd, Yannis; Bellanne-Chantelot, Christine; Saint-Martin, Cecile; Bergougnoux, Anne; Mallet, Delphine; Bouligand, Jerome; de Roux, Nicolas; Coppin, Lucie; Diene, Gwenaelle; Poitoux, Christine; Prunier, Delphine; Dieu, Xavier; Burnichon, Nelly; Christin-Maitre, Sophie; Jaillard, Sylvie; Launay, Erika; Rabes, Jean-Pierre; Benlian, Pascale; Di Filippo, Mathilde; Marmontel, Oriane; Bernert, Christine Poitou; Vigouroux, Corinne; Bismuth, Elise; Beltrand, Jacques; Polak, Michel; Giraud, Sophie; Pigny, Pascal; Savagner, Frederique; Petit, Isabelle Olivier; Arnoux, Jean-Baptiste; Beliard, Sophie; Odou, Marie-Francoise; Romanet, Pauline; Molin, Arnaud; Apetrei, Andreea; Richard, Nicolas; Pacot, Laurence; Pasmant, Eric; Hureaux, Marguerite; Vargas, Rosa; Gay-Bellile, Mathilde; Aouchiche, Karine; Carrie, Alain; Chauvet, Margaux; Gallo, Antonio; Lemale, Julie; Moulin, Philippe; Peretti, Noel; Thauvin-Robinet, Christel; Huet, Frederic; Tardy-Guidolet, Veronique

Clinical and neuroimaging features in a case of cerebrotendinous xanthomatosis with a CYP27A1 genotype newly identified in morocco: a literature review of African cases

摩洛哥一例新识别CYP27A1基因型的脑腱黄瘤病的临床和神经影像学特征：非洲病例的文献综述

Neurogenetics

IF1.2

2026-01-260

PRE

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations

CLINICAL CHEMISTRY AND LABORATORY MEDICINE

IF3.7

2024-04-080

PRE

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

NUTRIENTS

IF5

2021-09-2410

OAAI

Administration of the High-Density Lipoprotein Mimetic CER-001 for Inherited Lecithin-Cholesterol Acyltransferase Deficiency

ANNALS OF INTERNAL MEDICINE

IF15.2

2021-07-0114

PRE

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

OPHTHALMOLOGY

IF9.5

2019-03-01104

OAAI

Colijn, Johanna M.; den Hollander, Anneke, I; Demirkan, Ayse; Cougnard-Gregoire, Audrey; Verzijden, Timo; Kersten, Eveline; Meester-Smoor, Magda A.; Merle, Benedicte M. J.; Papageorgiou, Grigorios; Ahmad, Shahzad; Mulder, Monique T.; Costa, Miguel Angelo; Benlian, Pascale; Bertelsen, Geir; Bron, Alain M.; Claes, Birte; Creuzot-Garcher, Catherine; Erke, Maja Gran; Fauser, Sascha; Foster, Paul J.; Hammond, Christopher J.; Hense, Hans-Werner; Hoyng, Carel B.; Khawaja, Anthony P.; Korobelnik, Jean-Francois; Piermarocchi, Stefano; Segato, Tatiana; Silva, Rufino; Souied, Eric H.; Williams, Katie M.; van Duijn, Cornelia M.; Delcourt, Cecile; Klaver, Caroline C. W.; Acar, Niyazi; Altay, Lebriz; Anastosopoulos, Eleftherios; Azuara-Blanco, Augusto; Berendschot, Tos; Bergen, Arthur; Binquet, Christine; Bird, Alan; Bobak, Martin; Larsen, Morten Bogelund; Boon, Camiel; Bourne, Rupert; Bretillon, Lionel; Broe, Rebecca; Bron, Alain; Buitendijk, Gabrielle; Cachulo, Maria Luz; Capuano, Vittorio; Carriere, Isabelle; Chakravarthy, Usha; Chan, Michelle; Chang, Petrus; Colijn, Johanna; Cree, Angela; Cumberland, Phillippa; Cunha-Vaz, Jose; Daien, Vincent; De Jong, Eiko; Deak, Gabor; Delyfer, Marie-Noelle; den Hollander, Anneke; Dietzel, Martha; Faria, Pedro; Farinha, Claudia; Finger, Robert; Fletcher, Astrid; Foster, Paul; Founti, Panayiota; Gorgels, Theo; Grauslund, Jakob; Grus, Franz; Hammond, Christopher; Heesterbeek, Thomas; Hermann, Manuel; Hoehn, Rene; Hogg, Ruth; Holz, Frank; Hoyng, Carel; Jansonius, Nomdo; Janssen, Sarah; de Jonga, Eiko; Khawaja, Anthony; Klaver, Caroline; Lamparter, Julia; Le Goff, Melanie; Lehtimaki, Terho; Leung, Irene; Lotery, Andrew; Mauschitz, Matthias; Meester, Magda; Merle, Benedicte; Westrup, Verena Meyer Zu; Midena, Edoardo; Miotto, Stefania; Mirshahi, Alireza; Mohan-Said, Sadek; Mueller, Michael; Muldrew, Alyson; Murta, Joaquim; Nickels, Stefan; Nunes, Sandrina; Owen, Christopher; Peto, Tunde; Pfeiffer, Norbert; Prokofyeva, Elena; Rahi, Jugnoo; Raitakari, Olli; Rauscher, Franziska; Ribeiro, Luisa; Rougier, Marie-Benedicte; Rudnicka, Alicja; Sahel, Jose; Salonikiou, Aggeliki; Sanchez, Clarisa; Schick, Tina; Schmitz-Valckenberg, Steffen; Schuster, Alexander; Schweitzer, Cedric; Shehata, Jasmin; Silvestri, Giuliana; Simader, Christian; Souied, Eric; Speckauskas, Martynas; Springelkamp, Henriet; Tapp, Robyn; Topouzis, Fotis; van Leeuwen, Elisa; Verhoeven, Virginie; Vingerling, Hans; Von Hanno, Therese; Williams, Katie; Wolfram, Christian; Yip, Jennifer; Zerbib, Jennyfer; Ajana, Soufiane; Arango-Gonzalez, Blanca; Arndt, Verena; Bhatia, Vaibhav; Bhattacharya, Shomi S.; Biarnes, Marc; Borrell, Anna; Buehren, Sebastian; Calado, Sofia M.; Dammeier, Sascha; de Jong, Eiko K.; De la Cerda, Berta; Diaz-Corrales, Francisco J.; Diether, Sigrid; Emri, Eszter; Endermann, Tanja; Ferraro, Lucia L.; Garcia, Miriam; Heesterbeek, Thomas J.; Honisch, Sabina; Kilger, Ellen; Langen, Hanno; Lengyel, Imre; Luthert, Phil; Maugeais, Cyrille; Meester-Smoor, Magda; Inserm, Benedicte M. J. Merle; Mones, Jordi; Nogoceke, Everson; Pool, Frances M.; Rodriguez, Eduardo; Ueffing, Marius; Bartz-Schmidt, Karl U. Ulrich; van Leeuwen, Elisabeth M.; Zumbansen, Markus

ClinVar database of global familial hypercholesterolemia-associated DNA variants

HUMAN MUTATION

IF3.7

2018-10-1185

OAAI

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

CLINICA CHIMICA ACTA

IF2.9

2016-02-0122

PREAI

CHOLESTERYL ESTER STORAGE DISEASE: A PREDOMINANT LIPA GENOTYPE UNDERLIES DISEASE MANIFESTATIONS AND PROGRESSION - A REVIEW OF 12 FRENCH CASES.

ATHEROSCLEROSIS

IF5.7

2014-08-011

PREAI

PHENOTYPICAL AND MOLECULAR CHARACTERIZATION OF FAMILIAL HETEROZYGOUS HYPOBETALIPOPROTEINEMIA (FHBL)

ATHEROSCLEROSIS

IF5.7

2014-08-010

PREAI

Circulating Omega-3 Fatty Acids and Neovascular Age-Related Macular Degeneration

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2014-03-2896

PREAI

Oral Docosahexaenoic Acid in the Prevention of Exudative Age-Related Macular Degeneration The Nutritional AMD Treatment 2 Study

OPHTHALMOLOGY

IF9.5

2013-08-01122

PREAI

The Fifth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice (constituted by representatives of nine societies and by invited experts) Developed with the special contribution of the European Association for Cardiovascular Prevention & Rehabilitation (EACPR) (vol 33, pg 1635, 2012)

EUROPEAN HEART JOURNAL

IF35.6

2012-09-0124

OAAI

Perk, J.; De Backer, G.; Gohlke, H.; Graham, I.; Reiner, Z.; Verschuren, W. M. M.; Albus, C.; Benlian, P.; Boysen, G.; Cifkova, R.; Deaton, C.; Ebrahim, S.; Fisher, M.; Germano, G.; Hobbs, R.; Hoes, A.; Karadeniz, S.; Mezzani, A.; Prescott, E.; Ryden, L.; Scherer, M.; Syvaenne, M.; Cooney, M. T.; Bax, J.; Baumgartner, H.; Ceconi, C.; Dean, V.; Deaton, C.; Fagard, R.; Funck-Brentano, C.; Hasdai, D.; Hoes, A.; Kirchhof, P.; Knuuti, J.; Kolh, P.; McDonagh, T.; Moulin, C.; Popescu, B. A.; Reiner, Z.; Sechtem, U.; Sirnes, P. A.; Tendera, M.; Torbicki, A.; Vahanian, A.; Windecker, S.; Funck-Brentano, C.; Sirnes, P. A.; Aboyans, V.; Ezquerra, E. A.; Baigent, C.; Brotons, C.; Burell, G.; Ceriello, A.; De Sutter, J.; Deckers, J.; Del Prato, S.; Diener, H. C.; Fitzsimons, D.; Fras, Z.; Hambrecht, R.; Jankowski, P.; Keil, U.; Kirby, M.; Larsen, M. L.; Mancia, G.; Manolis, A. J.; McMurray, J.; Pajak, A.; Parkhomenko, A.; Rallidis, L.; Rigo, F.; Rocha, E.; Ruilope, L. M.; van der Velde, E.; Vanuzzo, D.; Viigimaa, M.; Volpe, M.; Wiklund, O.; Wolpert, C.

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

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY

IF7.5

2012-07-04163

OAAI

European Guidelines on cardiovascular disease prevention in clinical practice (version 2012) The Fifth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice (constituted by representatives of nine societies and by invited experts) Developed with the special contribution of the European Association for Cardiovascular Prevention & Rehabilitation (EACPR)

ATHEROSCLEROSIS

IF5.7

2012-07-010

OAAI

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

欧洲心血管疾病临床预防指南 (2012版)