4 départements de recherche
750 employés
45 nationalités
55 équipes de recherche
16 lauréats ERC
260 publications par an
24000 m² de laboratoires

Soutenez-nous via

Fondation universite de Strasbourg

Publications de Jean-Louis MANDEL

  • Fragile X syndrome.

    Hagerman RJ(1)(2), Berry-Kravis E(3), Hazlett HC(4), Bailey DB Jr(5), Moine H(6)(7)(8)(9), Kooy RF(10), Tassone F(1)(11), Gantois I(12)(13), Sonenberg N(12)(13), Mandel JL(6)(7)(8)(9), Hagerman PJ(1)(11).

    Nat Rev Dis Primers 29 septembre 2017

  • Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

    Quartier A(1,)(2,)(3,)(4), Poquet H(5,)(6), Gilbert-Dussardier B(7), Rossi M(8), Casteleyn AS(9), Portes VD(10), Feger C(11), Nourisson E(11), Kuentz P(5,)(6), Redin C(1,)(2,)(3,)(4), Thevenon J(5,)(6), Mosca-Boidron AL(12), Callier P(12), Muller J(11,)(13), Lesca G(8), Huet F(6), Geoffroy V(13), El Chehadeh S(6,)(14), Jung M(1,)(2,)(3,)(4), Trojak B(15), Le Gras S(1,)(2,)(3,)(4), Lehalle D(5), Jost B(1,)(2,)(3,)(4), Maury S(14), Masurel A(6), Edery P(8), Thauvin-Robinet C(5,)(6), Gerard B(11), Mandel JL(1,)(2,)(3,)(4,)(11,)(16,)(17), Faivre L(5,)(6), Piton A(1,)(11).

    Eur J Hum Genet Apr 2017

  • 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

  • Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

    Mattioli F(1), Schaefer E(2), Magee A(3), Mark P(4), Mancini GM(5), Dieterich K(6), Von Allmen G(7), Alders M(8), Coutton C(9), van Slegtenhorst M(5), Vieville G(9), Engelen M(8), Cobben JM(8), Juusola J(10), Pujol A(11), Mandel JL(12), Piton A(13).

    Am J Hum Genet 5 janvier 2017

  • 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 Dec 2016

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

IGBMC - CNRS UMR 7104 - Inserm U 964
1 rue Laurent Fries / BP 10142 / 67404 Illkirch CEDEX / France Tél +33 (0)3 88 65 32 00 / Fax +33 (0)3 88 65 32 01 / directeur.igbmc@igbmc.fr