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Author/Creator Di Filippo, Mathilde

3. Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia. Issue 6 (4th September 2020)

Authors:
Marmontel, Oriane; Rollat‐Farnier, Pierre Antoine; Wozny, Anne‐Sophie; Charrière, Sybil; Vanhoye, Xavier; Simonet, Thomas; Chatron, Nicolas; Collin‐Chavagnac, Delphine; Nony, Séverine; Dumont, Sabrina; Mahl, Muriel; Jacobs, Chantal; Janin, Alexandre; Caussy, Cyrielle; Poinsot, Pierre; Tauveron, I...
Journal:
Clinical genetics
Issue:
Volume 98:Issue 6(2020)
Page Start:
589
Record Type:
Journal Article
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4. Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia. Issue 1 (December 2016)

Authors:
Cuerq, Charlotte; Restier, Lioara; Drai, Jocelyne; Blond, Emilie; Roux, Adeline; Charriere, Sybil; Michalski, Marie-Caroline; Di Filippo, Mathilde; Levy, Emile; Lachaux, Alain; Peretti, Noël
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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7. Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia. Issue 10 (28th July 2022)

Authors:
Dijk, Wieneke; Di Filippo, Mathilde; Kooijman, Sander; van Eenige, Robin; Rimbert, Antoine; Caillaud, Amandine; Thedrez, Aurélie; Arnaud, Lucie; Pronk, Amanda; Garçon, Damien; Sotin, Thibaud; Lindenbaum, Pierre; Ozcariz Garcia, Enrique; Pais de Barros, Jean-Paul; Duvillard, Laurence; Si-Tayeb, Ka...
Journal:
Circulation
Issue:
Volume 146:Issue 10(2022)
Page Start:
724
Record Type:
Journal Article
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9. Lipid profile and cardiovascular risk factors in pediatric liver transplant recipients. (11th January 2016)

Authors:
Roblin, Emilie; Dumortier, Jérôme; Di Filippo, Mathilde; Collardeau‐Frachon, Sophie; Sassolas, Agnès; Peretti, Noël; Serusclat, André; Rivet, Christine; Boillot, Olivier; Lachaux, Alain
Journal:
Pediatric transplantation
Issue:
Volume 20:Number 2(2016:Mar.)
Page Start:
241
Record Type:
Journal Article
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10. Multiple microRNA regulation of lipoprotein lipase gene abolished by 3′UTR polymorphisms in a triglyceride-lowering haplotype harboring p.Ser474Ter. (March 2016)

Authors:
Caussy, Cyrielle; Charrière, Sybil; Meirhaeghe, Aline; Dallongeville, Jean; Lefai, Etienne; Rome, Sophie; Cuerq, Charlotte; Euthine, Vanessa; Delay, Mireille; Marmontel, Oriane; Di Filippo, Mathilde; Lagarde, Michel; Moulin, Philippe; Marçais, Christophe
Journal:
Atherosclerosis
Issue:
Volume 246(2016)
Page Start:
280
Record Type:
Journal Article
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