Pr LEBRE Anne-Sophie

Fiche personne


coordonnées

Hôpital Robert Debré
Avenue du Général Koenig
51092 REIMS

03 26 78 82 45

aslebre@chu-reims.fr

Territoire

Champagne-Ardenne

Statut

Hospitalo-Universitaire

Recherche

Expertises :
- Clinique:Génétique Médicale

Publications


Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Ruault V, Burger P, Gradels-Hauguel J, Ruiz N, , Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A, , Chaumette B, Sadikovic B, Mandel JL, Geneviève D

Mol Genet Genomic Med. 2024 01;12(1):e2363

Monoallelic Loss of Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.

Salhi S, Doreille A, Dancer MS, Boueilh A, Filipozzi P, El Karoui K, Ponce F, Lebre AS, Raymond L, Mesnard L

Am J Kidney Dis. 2023 10 14;:

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Doreille A, Lombardi Y, Dancer M, Lamri R, Testard Q, Vanhoye X, Lebre AS, Garcia H, Rafat C, Ouali N, Luque Y, Izzedine H, Esteve E, Cez A, Petit-Hoang C, François H, Marchal A, Letavernier E, Frémeaux-Bacchi V, Boffa JJ, Rondeau E, Raymond L, Mesnard L

Kidney Int Rep. 2023 03;8(3):596-605

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