L'équipe
  • Chercheurs

    Stephan COLLINS

    Christel DEPIENNE

    Binnaz YALCIN

  • Doctorants

    Perrine KRETZ

  • Ingénieurs & Techniciens

    Marie-Christine FISCHER

    Christel WAGNER

Médecine translationnelle et neurogénétique

Base génétique des maladies cognitives

Publications

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  • Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

    Depienne C(1,)(2,)(3,)(4,)(5), Nava C(6,)(7,)(8), Keren B(6,)(7), Heide S(7,)(9), Rastetter A(6), Passemard S(10,)(11,)(12), Chantot-Bastaraud S(13), Moutard ML(14,)(15,)(16), Agrawal PB(17), VanNoy G(17), Stoler JM(17), Amor DJ(18,)(19), Billette de Villemeur T(12,)(14,)(15,)(20), Doummar D(14,)(16), Alby C(21,)(22), Cormier-Daire V(23,)(22), Garel C(24), Marzin P(7), Scheidecker S(25), de Saint-Martin A(26,)(27), Hirsch E(26,)(28), Korff C(29), Bottani A(30), Faivre L(31,)(32), Verloes A(11), Orzechowski C(33), Burglen L(12,)(34,)(35), Leheup B(36), Roume J(37), Andrieux J(38), Sheth F(39), Datar C(40), Parker MJ(41), Pasquier L(42), Odent S(42,)(43,)(44), Naudion S(45), Delrue MA(45,)(46), Le Caignec C(47,)(48), Vincent M(47), Isidor B(47,)(48), Renaldo F(10,)(14), Stewart F(49), Toutain A(50), Koehler U(51), Hackl B(52), von Stulpnagel C(52), Kluger G(52,)(53), Mller RS(54,)(55,)(8), Pal D(56,)(8), Jonson T(57), Soller M(58), Verbeek NE(59), van Haelst MM(59), de Kovel C(59), Koeleman B(59,)(60,)(8), Monroe G(59,)(60), van Haaften G(59,)(60); DDD Study, Attie-Bitach T(21,)(22), Boutaud L(21,)(22), Heron D(7,)(9,)(20), Mignot C(61,)(62,)(63,)(64).

    Hum Genet Apr 2017;136:463-479.

  • Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

    Heide S(1), Keren B(2), Billette de Villemeur T(3), Chantot-Bastaraud S(4), Depienne C(5), Nava C(6), Mignot C(7), Jacquette A(7), Fonteneau E(2), Lejeune E(2), Mach C(2), Marey I(7), Whalen S(8), Lacombe D(9), Naudion S(9), Rooryck C(9), Toutain A(10), Caignec CL(11), Haye D(12), Olivier-Faivre L(13), Masurel-Paulet A(13), Thauvin-Robinet C(13), Lesne F(7), Faudet A(7), Ville D(14), des Portes V(14), Sanlaville D(15), Siffroi JP(4), Moutard ML(3), Heron D(16).

    J Pediatr 8 mars 2017;185:160-166.

  • Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

    Marsh AP(1)(2), Heron D(3)(4)(5), Edwards TJ(6)(7), Quartier A(8), Galea C(9), Nava C(3)(10), Rastetter A(10), Moutard ML(11)(12)(13), Anderson V(14), Bitoun P(15), Bunt J(6), Faudet A(3), Garel C(16), Gillies G(1), Gobius I(6), Guegan J(17), Heide S(3)(4), Keren B(3)(10), Lesne F(3), Lukic V(18), Mandelstam SA(2)(19)(20), McGillivray G(21), McIlroy A(14), Meneret A(10)(22), Mignot C(3)(4)(5), Morcom LR(6), Odent S(23)(24), Paolino A(6), Pope K(1), Riant F(25), Robinson GA(26), Spencer-Smith M(14)(27), Srour M(28)(29), Stephenson SE(1)(2), Tankard R(30)(31), Trouillard O(10), Welniarz Q(10)(32), Wood A(14)(33), Brice A(3)(10), Rouleau G(29)(34), Attie-Bitach T(35)(36), Delatycki MB(1)(2)(37), Mandel JL(8)(38), Amor DJ(1)(2), Roze E(10)(22), Piton A(8)(38), Bahlo M(30)(31), Billette de Villemeur T(5)(11)(12)(39), Sherr EH(40), Leventer RJ(2)(41)(42), Richards LJ(6)(43), Lockhart PJ(1)(2), Depienne C(3)(8)(10)(38).

    Nat Genet Apr 2017;49:511-514.

  • Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.

    White JK(1), Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC; Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP.

    Cell 18 juillet 2013;154:452-64.

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Université de Strasbourg
INSERM
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