Found: 9

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  • Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 19, p. 3579, doi. 10.1093/hmg/ddp306
    By:
    • Vissers, Lisenka E.L.M.;
    • Bhatt, Samarth S.;
    • Janssen, Irene M.;
    • Xia, Zhilian;
    • Lalani, Seema R.;
    • Pfundt, Rolph;
    • Derwinska, Katarzyna;
    • de Vries, Bert B.A.;
    • Gilissen, Christian;
    • Hoischen, Alexander;
    • Nesteruk, Monika;
    • Wisniowiecka-Kowalnik, Barbara;
    • Smyk, Marta;
    • Brunner, Han G.;
    • Cheung, Sau Wai;
    • van Kessel, Ad Geurts;
    • Veltman, Joris A.;
    • Stankiewicz, Pawel
    Publication type:
    Article

  • Characterization of a recurrent 15q24 microdeletion syndrome.

    Published in:
    Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016
    By:
    • Sharp, Andrew J.;
    • Selzer, Rebecca R.;
    • Veltman, Joris A.;
    • Gimelli, Stefania;
    • Gimelli, Giorgio;
    • Striano, Pasquale;
    • Coppola, Antonietta;
    • Regan, Regina;
    • Price, Sue M.;
    • Knoers, Nine V.;
    • Eis, Peggy S.;
    • Brunner, Han G.;
    • Hennekam, Raoul C.;
    • Knight, Samantha J.L.;
    • de Vries, Bert B.A.;
    • Zuffardi, Orsetta;
    • Eichler, Evan E.
    Publication type:
    Article

  • MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

    Published in:
    European Journal of Human Genetics, 2004, v. 12, n. 1, p. 24, doi. 10.1038/sj.ejhg.5201080
    By:
    • Kleefstra, Tjitske;
    • Yntema, Helger G.;
    • Nillesen, Willy M.;
    • Oudakker, Astrid R.;
    • Mullaart, Reinier A.;
    • Geerdink, Niels;
    • Bokhoven, Hans van;
    • de Vries, Bert B.A.;
    • Sistermans, Erik A.;
    • Hamel, Ben C.J.
    Publication type:
    Article

  • The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 315, doi. 10.1002/ajmg.c.31413
    By:
    • Vandeweyer, Geert;
    • Helsmoortel, Céline;
    • Van Dijck, Anke;
    • Vulto‐van Silfhout, Anneke T.;
    • Coe, Bradley P.;
    • Bernier, Raphael;
    • Gerdts, Jennifer;
    • Rooms, Liesbeth;
    • van den Ende, Jenneke;
    • Bakshi, Madhura;
    • Wilson, Meredith;
    • Nordgren, Ann;
    • Hendon, Laura G.;
    • Abdulrahman, Omar A.;
    • Romano, Corrado;
    • de Vries, Bert B.A.;
    • Kleefstra, Tjitske;
    • Eichler, Evan E.;
    • Van der Aa, Nathalie;
    • Kooy, R. Frank
    Publication type:
    Article

  • Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study.

    Published in:
    Human Mutation, 2009, v. 30, n. 7, p. 1082, doi. 10.1002/humu.21015
    By:
    • McMullan, Dominic J.;
    • Bonin, Michael;
    • Hehir-Kwa, Jayne Y.;
    • de Vries, Bert B.A.;
    • Dufke, Andreas;
    • Rattenberry, Eleanor;
    • Steehouwer, Marloes;
    • Moruz, Luminita;
    • Pfundt, Rolph;
    • de Leeuw, Nicole;
    • Riess, Angelika;
    • Altug-Teber, Özge;
    • Enders, Herbert;
    • Singer, Sylke;
    • Grasshoff, Ute;
    • Walter, Michael;
    • Walker, Judith M.;
    • Lamb, Catherine V.;
    • Davison, E. Val;
    • Brueton, Louise
    Publication type:
    Article

  • Genomic microarrays in mental retardation: A practical workflow for diagnostic applications.

    Published in:
    Human Mutation, 2009, v. 30, n. 3, p. 283, doi. 10.1002/humu.20883
    By:
    • Koolen, David A.;
    • Pfundt, Rolph;
    • de Leeuw, Nicole;
    • Hehir-Kwa, Jayne Y.;
    • Nillesen, Willy M.;
    • Neefs, Ineke;
    • Scheltinga, Ine;
    • Sistermans, Erik;
    • Smeets, Dominique;
    • Brunner, Han G.;
    • van Kessel, Ad Geurts;
    • Veltman, Joris A.;
    • de Vries, Bert B.A.
    Publication type:
    Article

  • Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

    Published in:
    Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
    By:
    • de Brouwer, Arjan P.M.;
    • Yntema, Helger G.;
    • Kleefstra, Tjitske;
    • Lugtenberg, Dorien;
    • Oudakker, Astrid R.;
    • de Vries, Bert B.A.;
    • van Bokhoven, Hans;
    • Van Esch, Hilde;
    • Frints, Suzanne G.M.;
    • Froyen, Guy;
    • Fryns, Jean-Pierre;
    • Raynaud, Martine;
    • Moizard, Marie-Pierre;
    • Ronce, Nathalie;
    • Bensalem, Anissa;
    • Moraine, Claude;
    • Poirier, Karine;
    • Castelnau, Laetitia;
    • Saillour, Yoann;
    • Bienvenu, Thierry
    Publication type:
    Article

  • Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 244, doi. 10.1002/ajmg.a.35632
    By:
    • Florisson, Joyce M.G.;
    • Mathijssen, Irene M.J.;
    • Dumee, Belinda;
    • Hoogeboom, Jeannette A.M.;
    • Poddighe, Pino J.;
    • Oostra, Ben A.;
    • Frijns, Jean Pierre;
    • Koster, Linda;
    • de Klein, Annelies;
    • Eussen, Bert;
    • de Vries, Bert B.A.;
    • Swagemakers, Sigrid;
    • van der Spek, Peter J.;
    • Verkerk, Annemieke J.M.H.
    Publication type:
    Article

  • Mutations in TITF-1 are associated with benign hereditary chorea.

    Published in:
    Human Molecular Genetics, 2002, v. 11, n. 8, p. 971, doi. 10.1093/hmg/11.8.971
    By:
    • Breedveld, Guido J.;
    • van Dongen, Jeroen W.F.;
    • Danesino, Cesare;
    • Guala, Andrea;
    • Percy, Alan K.;
    • Dure, Leon S.;
    • Harper, Peter;
    • Lazarou, Lazarus P.;
    • van der Linde, Herma;
    • Joosse, Marijke;
    • Grüters, Annette;
    • MacDonald, Marcy E.;
    • de Vries, Bert B.A.;
    • Arts, Willem Frans M.;
    • Oostra, Ben A.;
    • Krude, Heiko;
    • Heutink, Peter
    Publication type:
    Article