Publications by authors named "Mathilde Di Filippo"

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Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.
Manon Levy, Alexandre Janin, Oriane Marmontel, Anthony Fourier, Séverine Nony, Mathilde Di Filippo

Atherosclerosis· December 2025

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A rare gain of function variant of hepatic lipase attenuates hypercholesterolaemia and atherosclerosis in mice via an LDL receptor-independent mechanism.
Thibaud Sotin, Xiaoke Ge, Milena Schönke, Lucie Vince, Amélie Thouzeau, Mathilde Di Filippo

Cardiovasc Res· July 2025

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Interference of hypertriglyceridemia on total cholesterol assay with the new CHOL2 Abbott method on Architect analyser.
Mélina Terrasse, Denis Monneret, Laurent Desmurs, Fanny Zhao, Sabine Zaepfel, Mathilde Di Filippo

Clin Chem Lab Med· June 2025

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Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia.
Zoé Henry, Alexandre Janin, Séverine Nony, Oriane Marmontel, Sybil Charrière, Mathilde Di Filippo

Atherosclerosis· June 2025

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KILDA: identifying KIV-2 repeats from kmers.
Corentin Molitor, Timothy Labidi, Antoine Rimbert, Bertrand Cariou, Mathilde Di Filippo

NAR Genom Bioinform· June 2025

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Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.
Laurie Surles, Alexandre Janin, Corentin Molitor, Nicolas Chatron, Myriam Moret, Mathilde Di Filippo

Clin Genet· March 2025

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Prevalence of Liver Steatosis and Fibrosis in Adults With Primary Hypobetaliproteinemia: Results From the HYPOCHOL Study.
Sarra Smati, Matthieu Wargny, Jerome Boursier, Philippe Moulin, Mathilde Di Filippo

Clin Gastroenterol Hepatol· January 2025

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The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Yara Azar, Thomas E Ludwig, Hugo Le Bon, Thea Bismo Strøm, Olivier Bluteau, Mathilde Di-Filippo

Atherosclerosis· December 2024

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Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic mutations.
Mathilde Bonnot Ruget, Philippe Moulin, Cécile Pagan, David Cheillan, Oriane Marmontel, Mathilde Di Filippo

Clin Chem Lab Med· August 2024

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Evaluation of biochemical algorithms to screen dysbetalipoproteinemia in ε2ε2 and rare variants carriers.
Louise Michenaud, Nathanaël Marrié, Antoine Rimbert, Oriane Marmontel, Sybil Charrière, Mathilde Di Filippo

Clin Chem Lab Med· July 2024

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Combination of heterozygous APOB gene mutation with PNPLA3 and TM6SF2 variants promotes steatotic liver disease, cirrhosis and HCC development.
Yasmina Chouik, Mathilde Di Filippo, Sylvie Radenne, Jérôme Dumortier, Philippe Moulin

Liver Int· June 2024

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Assessment of three equations to calculate plasma LDL cholesterol concentration in fasting and non-fasting hypertriglyceridemic patients.
Joséphine Vasse, Audrey Lassartesse, Oriane Marmontel, Sybil Charrière, Caroline Bouveyron, Mathilde Di Filippo

Clin Chem Lab Med· January 2024

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Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation c.1468C>T.
Zoé Henry, Alexandre Janin, Séverine Nony, Oriane Marmontel, Bertrand Cariou, Mathilde Di Filippo

Clin Chem Lab Med· November 2023

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Efficacy of daratumumab in refractory primary Sjögren disease.
Gaetane Nocturne, Oriane Marmontel, Mathilde di Filippo, Pascale Chretien, Roman Krzysiek

RMD Open· September 2023

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Additive Effect of Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Oriane Marmontel, Yara Abou-Khalil, Olivier Bluteau, Bertrand Cariou, Valérie Carreau, Mathilde Di Filippo

Arterioscler Thromb Vasc Biol· July 2023

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A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.
Xavier Vanhoye, Claire Bardel, Antoine Rimbert, Philippe Moulin, Pierre-Antoine Rollat-Farnier, Mathilde Di Filippo

Transl Res· May 2023

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New CRISPR Technology for Creating Cell Models of Lipoprotein Assembly and Secretion.
Narasimha Anaganti, Atrayee Chattopadhyay, Mathilde Di Filippo, M Mahmood Hussain

Curr Atheroscler Rep· May 2023

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Factors Predicting Statin Initiation During Childhood in Familial Hypercholesterolemia: Importance of Genetic Diagnosis.
Noel Peretti, Alexandre Vimont, Emmanuel Mas, Jean Ferrières, Patrick Tounian, Mathilde Di Filippo

J Pediatr· February 2023

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Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis.
Jean-Baptiste Bonnet, Philippe Couvert, Mathilde Di-Filippo, Florian Boissiere, Jean-Paul Cristol

J Intern Med· January 2023

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Pseudohyponatremia: interference of hyperglycemia on indirect potentiometry.
Charles R Lefèvre, Charles Gibert, Laure Maucorps, Joséphine Vasse, Marie Michel, Mathilde Di Filippo

Clin Chem Lab Med· January 2023

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A meal rich in palm oil or butter modifies the sphingolipid profile of postprandial triglyceride-rich lipoproteins from type 2 diabetic women.
Marie Michèle Boulet, Catherine Calzada, Magali Pettazzoni, Taïssia Lelekov-Boissard, Charline Buisson, Mathilde Di Filippo

Biochimie· December 2022

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Guidance for the diagnosis and treatment of hypolipidemia disorders.
Cindy Bredefeld, M Mahmood Hussain, Maurizio Averna, Dennis D Black, Mitchell F Brin, Mathilde Di Filippo

J Clin Lipidol· December 2022

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Variants in the Gene Are Associated With a Favorable Cardiometabolic Risk Profile.
Antoine Rimbert, Ming W Yeung, Nawar Dalila, Chris H L Thio, Haojie Yu, Mathilde Di Filippo

Arterioscler Thromb Vasc Biol· October 2022

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Identification of a Gain-of-Function Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Wieneke Dijk, Mathilde Di Filippo, Sander Kooijman, Robin van Eenige, Antoine Rimbert

Circulation· September 2022

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Molecular Spectrum in a French Cohort with Primary Dyslipidemia.
Yara Abou Khalil, Oriane Marmontel, Jean Ferrières, François Paillard, Cécile Yelnik, Mathilde Di-Filippo

Int J Mol Sci· May 2022

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