Found: 11

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  • Huntingtin gene repeat size variations affect risk of lifetime depression.

    Published in:
    Translational Psychiatry, 2017, p. 1, doi. 10.1038/s41398-017-0042-1
    By:
    • Gardiner, Sarah L.;
    • van Belzen, Martine J.;
    • Boogaard, Merel W.;
    • van Roon-Mom, Willeke M. C.;
    • Rozing, Maarten P.;
    • van Hemert, Albert M.;
    • Smit, Johannes H.;
    • Beekman, Aartjan T. F.;
    • van Grootheest, Gerard;
    • Schoevers, Robert A.;
    • Oude Voshaar, Richard C.;
    • Roos, Raymund A. C.;
    • Comijs, Hannie C.;
    • Penninx, Brenda W. J. H.;
    • van der Mast, Roos C.;
    • Aziz, N. Ahmad
    Publication type:
    Article

  • EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 5, p. 480, doi. 10.1038/ejhg.2012.200
    By:
    • Losekoot, Monique;
    • van Belzen, Martine J;
    • Seneca, Sara;
    • Bauer, Peter;
    • Stenhouse, Susan A R;
    • Barton, David E
    Publication type:
    Article

  • Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes.

    Published in:
    2017
    By:
    • Stuitje, Geerte;
    • van Belzen, Martine J.;
    • Gardiner, Sarah L.;
    • van Roon-Mom, Willeke M. C.;
    • Boogaard, Merel W.;
    • Tabrizi, Sarah J.;
    • Roos, Raymund A. C.;
    • Aziz, N. A.;
    • REGISTRY Investigators of the European Huntington Disease Network
    Publication type:
    letter

  • CTLA4+49 A/G and CT60 polymorphisms in Dutch coeliac disease patients.

    Published in:
    European Journal of Human Genetics, 2004, v. 12, n. 9, p. 782, doi. 10.1038/sj.ejhg.5201165
    By:
    • Van Belzen, Martine J.;
    • Mulder, Chris J. J.;
    • Zhernakova, Alexandra;
    • Pearson, Peter L.;
    • Houwen, Roderick H. J.;
    • Wijmenga, Cisca
    Publication type:
    Article

  • Making (anti-) sense out of huntingtin levels in Huntington disease.

    Published in:
    Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0018-7
    By:
    • Evers, Melvin M.;
    • Schut, Menno H.;
    • Pepers, Barry A.;
    • Atalar, Melek;
    • van Belzen, Martine J.;
    • Faull, Richard L. M.;
    • Roos, Raymund A. C.;
    • van Roon-Mom, Willeke M. C.
    Publication type:
    Article

  • Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1341, doi. 10.1038/ng1680
    By:
    • Monsuur, Alienke J.;
    • de Bakker, Paul I. W.;
    • Alizadeh, Behrooz Z.;
    • Zhernakova, Alexandra;
    • Bevova, Marianna R.;
    • Strengman, Eric;
    • Franke, Lude;
    • van't Slot, Ruben;
    • van Belzen, Martine J.;
    • Lavrijsen, Ineke C. M.;
    • Diosdado, Begoña;
    • Daly, Mark J.;
    • Mulder, Chris J. J.;
    • Mearin, M. Luisa;
    • Meijer, Jos W. R.;
    • Meijer, Gerrit A.;
    • van Oort, Erica;
    • Wapenaar, Martin C.;
    • Koeleman, Bobby P. C.;
    • Wijmenga, Cisca
    Publication type:
    Article

  • Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 35, doi. 10.1002/ajmg.b.32582
    By:
    • Quarrell, Oliver W.;
    • Clarke, Angus J.;
    • Compton, Cecilia;
    • de Die‐Smulders, Christine E. M.;
    • Fryer, Alan;
    • Jenkins, Sian;
    • Lahiri, Nayana;
    • MacLeod, Rhona;
    • Miedzybrodzka, Zosia;
    • Morrison, Patrick J.;
    • Musgrave, Hannah;
    • O'Driscoll, Mary;
    • Strong, Mark;
    • van Belzen, Martine J.;
    • Vermeer, Sascha;
    • Verschuuren‐Bemelmans, Corien C.;
    • Bijlsma, Emilia K.
    Publication type:
    Article

  • A Genomewide Screen in a Four-Generation Dutch Family with Celiac Disease: Evidence for Linkage to Chromosomes 6 and 9.

    Published in:
    American Journal of Gastroenterology (Springer Nature), 2004, v. 99, n. 3, p. 466, doi. 10.1111/j.1572-0241.2004.04072.x
    By:
    • Belzen, Martine J. van;
    • Vrolijk, Martine M.;
    • Meijer, Jos W.R.;
    • Crusius, J. Bart A.;
    • Pearson, Peter L.;
    • Sandkuijl, Lodewijk A.;
    • Houwen, Roderick H. J.;
    • Wijmenga, Cisca
    Publication type:
    Article

  • Two novel cases expanding the phenotype of <italic>SETD2</italic>‐related overgrowth syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1212, doi. 10.1002/ajmg.a.38666
    By:
    • van Rij, Maartje C.;
    • Hollink, Iris H. I. M.;
    • Terhal, Paulien Anna;
    • Kant, Sarina G.;
    • Ruivenkamp, Claudia;
    • van Haeringen, Arie;
    • Kievit, J. Anneke;
    • van Belzen, Martine J.
    Publication type:
    Article

  • Benign and malignant tumors in Rubinstein–Taybi syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 597, doi. 10.1002/ajmg.a.38603
    By:
    • Boot, Max V.;
    • van Belzen, Martine J.;
    • Overbeek, Lucy I.;
    • Hijmering, Nathalie;
    • Mendeville, Matias;
    • Waisfisz, Quinten;
    • Wesseling, Pieter;
    • Hennekam, Raoul C.;
    • de Jong, Daphne
    Publication type:
    Article

  • CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2681, doi. 10.1002/ajmg.a.37800
    By:
    • Menke, Leonie A.;
    • van Belzen, Martine J.;
    • Alders, Marielle;
    • Cristofoli, Francesca;
    • Ehmke, Nadja;
    • Fergelot, Patricia;
    • Foster, Alison;
    • Gerkes, Erica H.;
    • Hoffer, Mariëtte J. V.;
    • Horn, Denise;
    • Kant, Sarina G.;
    • Lacombe, Didier;
    • Leon, Eyby;
    • Maas, Saskia M.;
    • Melis, Daniela;
    • Muto, Valentina;
    • Park, Soo‐Mi;
    • Peeters, Hilde;
    • Peters, Dorien J. M.;
    • Pfundt, Rolph
    Publication type:
    Article