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Publications de l'IGBMC

  • Antitumor Effects of Lidocaine on Human Breast Cancer Cells: An In Vitro and In Vivo Experimental Trial.

    Chamaraux-Tran TN(1)(2)(3)(4)(5), Mathelin C(2)(3)(4)(5)(6), Aprahamian M(7), Joshi GP(8), Tomasetto C(2)(3)(4)(5), Diemunsch P(9)(5)(7), Akladios C(5)(6)(7).

    Anticancer Res Jan 2018

  • CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

    Bohm J(1), Lornage X(2), Chevessier F(3), Birck C(2), Zanotti S(4), Cudia P(5), Bulla M(6), Granger F(2), Bui MT(7), Sartori M(2), Schneider-Gold C(8), Malfatti E(7), Romero NB(7), Mora M(4), Laporte J(9).

    Acta Neuropathol Jan 2018

  • DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

    Marsh APL(1)(2), Edwards TJ(3)(4), Galea C(5), Cooper HM(3), Engle EC(6)(7)(8)(9)(10)(11), Jamuar SS(6)(7)(8)(12)(13), Meneret A(14)(15), Moutard ML(16)(17)(18), Nava C(14)(19), Rastetter A(14), Robinson G(20), Rouleau G(21)(22), Roze E(14)(15), Spencer-Smith M(23)(24), Trouillard O(14), Billette de Villemeur T(16)(17)(25)(26), Walsh CA(6)(7)(8)(9)(11)(12), Yu TW(6)(11)(12); IRC5 Consortium, Heron D(17)(19), Sherr EH(27), Richards LJ(3)(28), Depienne C(14)(19)(29)(30), Leventer RJ(2)(31)(32), Lockhart PJ(1)(2).

    Hum Mutat Jan 2018

  • Defining the phenotypic spectrum of SLC6A1 mutations.

    Johannesen KM(1)(2), Gardella E(1)(2), Linnankivi T(3), Courage C(4)(5), de Saint Martin A(6)(7), Lehesjoki AE(4)(5), Mignot C(8), Afenjar A(9), Lesca G(10)(11)(12), Abi-Warde MT(6)(7), Chelly J(13)(14), Piton A(13)(14), Merritt JL 2nd(15), Rodan LH(16)(17), Tan WH(16)(17), Bird LM(18), Nespeca M(19), Gleeson JG(20), Yoo Y(21), Choi M(21), Chae JH(22), Czapansky-Beilman D(23), Reichert SC(24), Pendziwiat M(25), Verhoeven JS(26), Schelhaas HJ(26), Devinsky O(27), Christensen J(28), Specchio N(29), Trivisano M(29), Weber YG(30), Nava C(31)(32), Keren B(31)(32), Doummar D(33), Schaefer E(34), Hopkins S(35), Dubbs H(36), Shaw JE(36), Pisani L(36), Myers CT(15), Tang S(37), Tang S(38), Pal DK(38), Millichap JJ(39)(40), Carvill GL(40), Helbig KL(37), Mecarelli O(41), Striano P(42), Helbig I(25)(35), Rubboli G(1)(43), Mefford HC(15), Mller RS(1)(2).

    Epilepsia 8 janvier 2018

  • Identification of genetic elements in metabolism by high-throughput mouse phenotyping.

    Rozman J(1)(2), Rathkolb B(1)(2)(3), Oestereicher MA(1), Schutt C(1), Ravindranath AC(2)(4), Leuchtenberger S(1), Sharma S(2)(5), Kistler M(1), Willershauser M(6)(7)(8), Brommage R(1), Meehan TF(9), Mason J(9), Haselimashhadi H(9); IMPC Consortium, Hough T(10), Mallon AM(10), Wells S(10), Santos L(10), Lelliott CJ(11), White JK(11)(12), Sorg T(13)(14)(15)(16)(17), Champy MF(13)(14)(15)(16)(17), Bower LR(18), Reynolds CL(19), Flenniken AM(20)(21)(22), Murray SA(12), Nutter LMJ(20)(21), Svenson KL(12), West D(23), Tocchini-Valentini GP(24), Beaudet AL(20)(21), Bosch F(25), Braun RB(12), Dobbie MS(26), Gao X(27), Herault Y(13)(14)(15)(16)(17), Moshiri A(28), Moore BA(29), Kent Lloyd KC(18), McKerlie C(20)(21), Masuya H(30), Tanaka N(30), Flicek P(9), Parkinson HE(9), Sedlacek R(31), Seong JK(32), Wang CL(33), Moore M(34), Brown SD(10), Tschop MH(2)(35)(36), Wurst W(37)(38)(39)(40), Klingenspor M(6)(7)(8), Wolf E(2)(3), Beckers J(1)(2)(41), Machicao F(42), Peter A(2)(42)(43), Staiger H(2)(43)(44), Haring HU(2)(42)(43), Grallert H(2)(5)(45), Campillos M(2)(4), Maier H(1), Fuchs H(1), Gailus-Durner V(1), Werner T(46), Hrabe de Angelis M(47)(48)(49).

    Nat Commun 18 janvier 2018

  • Integrin a6 loss promotes colitis-associated colorectal cancer. Response to: "Integrin a6 variants and colorectal cancer" by Beaulieu JF.

    De Arcangelis A(1)(2)(3)(4), Chamaillard M(5), Simon-Assmann P(4)(6), Labouesse M(7).

    Gut 3 janvier 2018

  • KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

    Gueneau L(1), Fish RJ(2), Shamseldin HE(3), Voisin N(1), Tran Mau-Them F(4), Preiksaitiene E(5), Monroe GR(6), Lai A(7), Putoux A(8), Allias F(9), Ambusaidi Q(10), Ambrozaityte L(5), Cimbalistiene L(5), Delafontaine J(11), Guex N(11), Hashem M(3), Kurdi W(10), Jamuar SS(12), Ying LJ(13), Bonnard C(14), Pippucci T(15), Pradervand S(16), Roechert B(11), van Hasselt PM(6), Wiederkehr M(1), Wright CF(17); DDD Study, Xenarios I(16), van Haaften G(6), Shaw-Smith C(18), Schindewolf EM(19), Neerman-Arbez M(2), Sanlaville D(8), Lesca G(8), Guibaud L(20), Reversade B(21), Chelly J(4), Kucinskas V(5), Alkuraya FS(22), Reymond A(23).

    Am J Hum Genet 4 janvier 2018

  • Med1 deficiency alters the somatic hypermutation spectrum in murine B cells.

    Gaudot L(1)(2)(3)(4), Thomas-Claudepierre AS(1)(2)(3)(4), Robert I(1)(2)(3)(4), Schiavo E(1)(2)(3)(4), Heyer V(1)(2)(3)(4), Reina-San-Martin B(1)(2)(3)(4).

    Eur J Immunol 2 janvier 2018

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