4 research departments
750 employees
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55 research teams
16 ERC laureates
260 publications per year
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Jean-Louis MANDEL publications

  • 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 June 3, 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

  • 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

  • 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

  • 20 ans apres: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

    Piton A(1), Poquet H(2), Redin C(1), Masurel A(3), Lauer J(4), Muller J(5), Thevenon J(6), Herenger Y(4), Chancenotte S(7), Bonnet M(8), Pinoit JM(9), Huet F(3), Thauvin-Robinet C(6), Jaeger AS(4), Le Gras S(10), Jost B(10), Gérard B(4), Peoc'h K(11), Launay JM(11), Faivre L(6), Mandel JL(12).

    Eur J Hum Genet Jun 2014

  • Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

    Redin C(1), Gérard B(2), Lauer J(2), Herenger Y(2), Muller J(3), Quartier A(1), Masurel-Paulet A(4), Willems M(5), Lesca G(6), El-Chehadeh S(4), Le Gras S(7), Vicaire S(7), Philipps M(7), Dumas M(7), Geoffroy V(8), Feger C(7), Haumesser N(1), Alembik Y(9), Barth M(10), Bonneau D(10), Colin E(10), Dollfus H(11), Doray B(9), Delrue MA(12), Drouin-Garraud V(13), Flori E(9), Fradin M(14), Francannet C(15), Goldenberg A(13), Lumbroso S(16), Mathieu-Dramard M(17), Martin-Coignard D(18), Lacombe D(12), Morin G(17), Polge A(16), Sukno S(19), Thauvin-Robinet C(4), Thevenon J(4), Doco-Fenzy M(20), Genevieve D(5), Sarda P(5), Edery P(6), Isidor B(21), Jost B(7), Olivier-Faivre L(4), Mandel JL(22), Piton A(1).

    J Med Genet Nov 2014

  • The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

    Mallaret M(1), Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M.

    Brain Feb 2014

  • Adult centronuclear myopathies: A hospital-based study.

    Echaniz-Laguna A, Biancalana V, Böhm J, Tranchant C, Mandel JL, Laporte J.

    Rev Neurol (Paris) Aug-Sep 2013

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