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Publications de Jean-Louis MANDEL

  • A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

    Masurel-Paulet A(1,)(2), Piton A(3,)(4), Chancenotte S(5), Redin C(3,)(4), Thauvin-Robinet C(1,)(2), Henrenger Y(4), Minot D(1), Creppy A(3,)(4), Ruffier-Bourdet M(5), Thevenon J(1,)(2), Kuentz P(2), Lehalle D(1), Curie A(6), Blanchard G(6), Ghosn E(7), Bonnet M(5), Archimbaud-Devilliers M(5), Huet F(1,)(2), Perret O(8), Philip N(8), Mandel JL(3,)(4), Faivre L(1,)(2).

    Am J Med Genet A 3 juin 2016

  • Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.

    Tabet R(1), Moutin E(2), Becker JA(1), Heintz D(3), Fouillen L(4), Flatter E(1), Krezel W(1), Alunni V(1), Koebel P(1), Dembélé D(1), Tassone F(5), Bardoni B(6), Mandel JL(7), Vitale N(8), Muller D(2), Le Merrer J(1), Moine H(9).

    Proc Natl Acad Sci U S A 28 juin 2016

  • Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

    Schaefer E(1,)(2), Stoetzel C(1), Scheidecker S(1), Geoffroy V(1), Prasad MK(1), Redin C(3), Missotte I(4), Lacombe D(5), Mandel JL(3,)(6,)(7), Muller J(1,)(6), Dollfus H(1,)(2).

    J Hum Genet May 2016

  • Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

    Miguet M(1), Thevenon J(2,)(3), Laugel V(4,)(5), Lefebvre M(2), Bourchany A(2), Riviere JB(3,)(6), Duffourd Y(3,)(6), Schaefer E(1), Antal MC(7), Abida R(8), Weingertner AS(9), Kremer V(10), Vabres P(3,)(11), Morice-Picard F(12), Gonzales M(13), Lipsker D(14), Fraitag S(15), Mandel JL(16), Chelly J(16), Dollfus H(1,)(5), Faivre L(2,)(3), Thauvin-Robinet C(2,)(3), Calmels N(16), El Chehadeh S(1).

    Prenat Diagn 9 novembre 2016

  • Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

    Mattioli F(1), Piton A(1,)(2), Gérard B(2), Superti-Furga A(3), Mandel JL(1,)(2,)(4), Unger S(5).

    Am J Med Genet A 7 avril 2016

  • Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.

    Mallaret M(1,)(2,)(3), Renaud M(2,)(3,)(4), Redin C(2), Drouot N(2), Muller J(2,)(5), Severac F(6), Mandel JL(2,)(5,)(7), Hamza W(8), Benhassine T(8), Ali-Pacha L(9), Tazir M(9,)(10), Durr A(11,)(12), Monin ML(13), Mignot C(13), Charles P(14), Van Maldergem L(15), Chamard L(16), Thauvin-Robinet C(17), Laugel V(18), Burglen L(19), Calvas P(20), Fleury MC(3), Tranchant C(2,)(3,)(4), Anheim M(21,)(22,)(23), Koenig M(24).

    J Neurol Jul 2016

  • Améliorer l’homme par la génétique

    Mandel Jean Louis

    Revue d'éthique et de théologie morale 2015 2015 2015

  • Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.

    Hrabe de Angelis M, Nicholson G, Selloum M, White JK, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs H, Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, Amann G, AndrE P, Atkins S, Auburtin A, Ayadi A, Becker J, Becker L, Bedu E, Bekeredjian R, Birling MC, Blake A, Bottomley J, Bowl MR, Brault V, Busch DH, Bussell JN, Calzada-Wack J, Cater H, Champy MF, Charles P, Chevalier C, Chiani F, Codner GF, Combe R, Cox R, Dalloneau E, Dierich A, Di Fenza A, Doe B, Duchon A, Eickelberg O, Esapa CT, Fertak LE, Feigel T, Emelyanova I, Estabel J, Favor J, Flenniken A, Gambadoro A, Garrett L, Gates H, Gerdin AK, Gkoutos G, Greenaway S, Glasl L, Goetz P, Da Cruz IG, Gotz A, Graw J, Guimond A, Hans W, Hicks G, Holter SM, Hofler H, Hancock JM, Hoehndorf R, Hough T, Houghton R, Hurt A, Ivandic B, Jacobs H, Jacquot S, Jones N, Karp NA, Katus HA, Kitchen S, Klein-Rodewald T, Klingenspor M, Klopstock T, Lalanne V, Leblanc S, Lengger C, le Marchand E, Ludwig T, Lux A, McKerlie C, Maier H, Mandel JL, Marschall S, Mark M, Melvin DG, Meziane H, Micklich K, Mittelhauser C, Monassier L, Moulaert D, Muller S, Naton B, Neff F, Nolan PM, Nutter LM, Ollert M, Pavlovic G, Pellegata NS, Peter E, Petit-Demouliere B, Pickard A, Podrini C, Potter P, Pouilly L, Puk O, Richardson D, Rousseau S, Quintanilla-Fend L, Quwailid MM, Racz I, Rathkolb B, Riet F, Rossant J, Roux M, Rozman J, Ryder E, Salisbury J, Santos L, Schable KH, Schiller E, Schrewe A, Schulz H, Steinkamp R, Simon M, Stewart M, Stoger C, Stoger T, Sun M, Sunter D, Teboul L, Tilly I, Tocchini-Valentini GP, Tost M, Treise I, Vasseur L, Velot E, Vogt-Weisenhorn D, Wagner C, Walling A, Wattenhofer-Donze M, Weber B, Wendling O, Westerberg H, Willershauser M, Wolf E, Wolter A, Wood J, Wurst W, Yildirim AO, Zeh R, Zimmer A, Zimprich A; EUMODIC Consortium, Holmes C, Steel KP, Herault Y, Gailus-Durner V, Mallon AM, Brown SD.

    Nat Genet Sep 2015

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