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

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Publications de Jamel CHELLY

  • Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

    Broix L(1,)(2,)(3,)(4,)(5), Jagline H(1,)(2,)(3,)(4), L Ivanova E(1,)(2,)(3,)(4), Schmucker S(1,)(2,)(3,)(4), Drouot N(1,)(2,)(3,)(4), Clayton-Smith J(6), Pagnamenta AT(7), Metcalfe KA(6), Isidor B(8), Louvier UW(9), Poduri A(10), Taylor JC(7), Tilly P(1,)(2,)(3,)(4), Poirier K(5), Saillour Y(5), Lebrun N(5), Stemmelen T(1,)(2,)(3,)(4), Rudolf G(1,)(2,)(3,)(4), Muraca G(5), Saintpierre B(5), Elmorjani A(5); Deciphering Developmental Disorders study, Moïse M(11), Weirauch NB(12), Guerrini R(13), Boland A(14), Olaso R(14), Masson C(15), Tripathy R(16), Keays D(16), Beldjord C(17), Nguyen L(11), Godin J(1,)(2,)(3,)(4), Kini U(18), Nischké P(15), Deleuze JF(14), Bahi-Buisson N(19), Sumara I(1,)(2,)(3,)(4), Hinckelmann MV(1,)(2,)(3,)(4), Chelly J(1,)(2,)(3,)(4,)(20).

    Nat Genet nov 2016 2016

  • Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

    Marey I(1), Ben Yaou R(2,)(3), Deburgrave N(1), Vasson A(1), Nectoux J(1,)(4), Leturcq F(1,)(2), Eymard B(3), Laforet P(3), Behin A(3), Stojkovic T(3), Mayer M(5), Tiffreau V(6), Desguerre I(7), Boyer FC(8), Nadaj-Pakleza A(9), Ferrer X(10), Wahbi K(11), Becane HM(3), Claustres M(12,)(13), Chelly J(1,)(4), Cossee M(12,)(13).

    J Neuromuscul Dis 27 mai 2016

  • Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

    Mirzaa GM(1), Conti V(2), Timms AE(3), Smyser CD(4), Ahmed S(5), Carter M(6), Barnett S(7), Hufnagel RB(8), Goldstein A(9), Narumi-Kishimoto Y(10), Olds C(5), Collins S(5), Johnston K(11), Deleuze JF(12), Nitschké P(13), Friend K(14), Harris C(7), Goetsch A(15), Martin B(16), Boyle EA(17), Parrini E(2), Mei D(2), Tattini L(2), Slavotinek A(18), Blair E(19), Barnett C(20), Shendure J(16), Chelly J(21), Dobyns WB(22), Guerrini R(23).

    Lancet Neurol Dec 2015

  • Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

    Nectoux J(1), de Cid R(2), Baulande S(3), Leturcq F(4), Urtizberea JA(5), Penisson-Besnier I(6), Nadaj-Pakleza A(6), Roudaut C(2), Criqui A(3), Orhant L(7), Peyroulan D(8), Ben Yaou R(9), Nelson I(9), Cobo AM(5), Arné-Bes MC(10), Uro-Coste E(10), Nitschke P(11), Claustres M(12), Bonne G(13), Lévy N(14), Chelly J(1), Richard I(2), Cossée M(12).

    Eur J Hum Genet Jul 2015

  • Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

    Massouridès E(1), Polentes J(1), Mangeot PE(2), Mournetas V(3), Nectoux J(4), Deburgrave N(4), Nusbaum P(4), Leturcq F(4), Popplewell L(5), Dickson G(5), Wein N(6), Flanigan KM(6), Peschanski M(3), Chelly J(7), Pinset C(3).

    Skelet Muscle 14 novembre 2015

  • Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

    Ramos-Brossier M(1), Montani C(2), Lebrun N(1), Gritti L(2), Martin C(3), Seminatore-Nole C(1), Toussaint A(4), Moreno S(1), Poirier K(1), Dorseuil O(1), Chelly J(1), Hackett A(5), Gecz J(6), Bieth E(7), Faudet A(8), Heron D(8), Frank Kooy R(9), Loeys B(9), Humeau Y(3), Sala C(2), Billuart P(10).

    Hum Mol Genet 15 février 2015

  • Rare ACTG1 variants in fetal microlissencephaly.

    Poirier K(1), Martinovic J(2), Laquerrière A(3), Cavallin M(4), Fallet-Bianco C(5), Desguerre I(6), Valence S(7), Grande-Goburghun J(8), Francannet C(9), Deleuze JF(10), Boland A(10), Chelly J(11), Bahi-Buisson N(12).

    Eur J Med Genet Aug 2015

  • Variants in CUL4B are associated with cerebral malformations.

    Vulto-van Silfhout AT(1), Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP.

    Hum Mutat Jan 2015

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