Search Results - "van Belzen, M J"

The SNAP-25 gene is associated with cognitive ability : evidence from a family-based study in two independent Dutch cohorts by GOSSO, M. F, DE GEUS, E. J. C, VAN BELZEN, M. J, POLDERMAN, T. J. C, HEUTINK, P, BOOMSMA, D. I, POSTHUMA, D

“…The synaptosomal-associated protein of 25 kDa (SNAP-25) gene plays an integral role in synaptic transmission, and is differentially expressed in the mammalian…”
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Keloids in Rubinstein-Taybi syndrome: a clinical study by van de Kar, A.L., Houge, G., Shaw, A.C., de Jong, D., van Belzen, M.J., Peters, D.J.M., Hennekam, R.C.M.

“…Summary Background Rubinstein–Taybi syndrome (RSTS) is a multiple congenital anomalies–intellectual disability syndrome. One of the complications is keloid…”
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Defining the contribution of the HLA region to cis DQ2-positive coeliac disease patients by van Belzen, M J, Koeleman, B P C, Crusius, J B A, Meijer, J W R, Bardoel, A F J, Pearson, P L, Sandkuijl, L A, Houwen, R H J, Wijmenga, C

“…The major genetic susceptibility to coeliac disease is contributed by the human leukocyte antigen (HLA) region. The primary association is with the HLA-DQ2…”
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The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008) by van Rij, MC, de Koning Gans, PAM, van Belzen, MJ, Roos, RAC, Geraedts, JPM, De Rademaeker, M, Bijlsma, EK, de Die-Smulders, CEM

“…We aimed to study reproductive behaviour of couples opting for prenatal diagnosis (PND) and pre‐implantation genetic diagnosis (PGD) for Huntington's disease…”
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Intergenerational CAG repeat instability is highly heritable in Huntington's disease by Aziz, N A, van Belzen, M J, Roos, R A C

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Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008 by van Rij, MC, de Koning Gans, PAM, Aalfs, CM, Elting, M, Ippel, PF, Maat-Kievit, JA, Vermeer, S, Verschuuren-Bemelmans, CC, van Belzen, MJ, Belfroid, RDM, Losekoot, M, Geraedts, JPM, Roos, RAC, Tibben, A, de Die-Smulders, CEM, Bijlsma, EK

“…This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands…”
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A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening by Gerkes, E. H., Fock, J. M., den Dunnen, W. F. A., van Belzen, M. J., van der Lans, C. A., Hoving, E. W., Fakkert, I. E., Smith, M. J., Evans, D. G., Olderode-Berends, M. J. W.

“…Childhood meningiomas are rare. Recently, a new hereditary tumor predisposition syndrome has been discovered, resulting in an increased risk for spinal and…”
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Genetic analysis of psychiatric disorders in humans by Van Belzen, M. J., Heutink, P.

“…Psychiatric disorders place a large burden not only on affected individuals and their families but also on societies and health services. Current treatment is…”
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Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression by Gardiner, S L, van Belzen, M J, Boogaard, M W, van Roon-Mom, W M C, Rozing, M P, van Hemert, A M, Smit, J H, Beekman, A T F, van Grootheest, G, Schoevers, R A, Oude Voshaar, R C, Comijs, H C, Penninx, B W J H, van der Mast, R C, Roos, R A C, Aziz, N A

“…Depression is one of the most prevalent and debilitating psychiatric disorders worldwide. Recently, we showed that both relatively short and relatively long…”
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A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia by VAN BELZEN, M. J, HIEL, J. A. P, WEEMAES, C. M. R, GABREËLS, F. J. M, VAN ENGELEN, B. G. M, SMEETS, D. F. C. M, VAN DEN HEUVEL, L. P. W. J

“…Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, elevated alpha-fetoprotein…”
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The tissue transglutaminase gene is not a primary factor predisposing to celiac disease by van Belzen, M.J., Mulder, C.J.J., Pearson, P.L., Houwen, R.H.J., Wijmenga, C.

“…OBJECTIVES: The aim of this study was to determine whether the tissue transglutaminase (tTG) gene is a causal factor in the pathogenesis of celiac disease…”
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IL12B and IRF1 gene polymorphisms and susceptibility to celiac disease by Seegers, D., Borm, M. E. A., Van Belzen, M. J., Mulder, C. J. J., Bailing, J., Crusius, J. B. A., Meijer, J. W. R., Wijmenga, C., Peña, A. S., Bouma, G.

“…Summary Celiac disease (CD) is a common gastro‐intestinal disorder resulting from permanent intolerance to wheat gliadins and related proteins in rye and…”
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Polymorphisms in the genes encoding interferon-γ and interferon-γ receptors in multiple sclerosis by Schrijver, H. M., Hooper-van Veen, T., Van Belzen, M. J., Crusius, J. B. A., Peña, A. S., Barkhof, F., Polman, C. H., Uitdehaag, B. M. J.

“…Summary Genome screens suggest that several genes, each contributing to a small extent, are involved in multiple sclerosis (MS) susceptibility. Simultaneous…”
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Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect by Wijmenga, Cisca, Monsuur, Alienke J, Bakker, Paul I W de, Alizadeh, Behrooz Z, Zhernakova, Alexandra, Bevova, Marianna R, Strengman, Eric, Franke, Lude, Slot, Ruben van't, Belzen, Martine J van, Lavrijsen, Ineke C M, Diosdado, Begoña, Daly, Mark J, Mulder, Chris J J, Mearin, M Luisa, Meijer, Jos W R, Meijer, Gerrit A, Oort, Erica van, Wapenaar, Martin C, Koeleman, Bobby P C

“…Celiac disease is probably the best-understood immune-related disorder. The disease presents in the small intestine and results from the interplay between…”
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A major non-HLA locus in celiac disease maps to chromosome 19 by Van Belzen, Martine J, Meijer, Jos W.R, Sandkuijl, Lodewijk A, Bardoel, Alfons F.J, Mulder, Chris J.J, Pearson, Peter L, Houwen, Roderick H.J, Wijmenga, Cisca

“…Background & aims : The pathogenesis of celiac disease is still unknown despite its well-known association with human leukocyte antigen (HLA)-DQ2 and DQ8. It…”
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IL 12B and IRF1 gene polymorphisms and susceptibility to celiac disease by Seegers, D, Borm, MEA, van Belzen, MJ, Mulder, CJJ, Bailing, J, Crusius, JBA, Meijer, JWR, Wijmenga, C, Pena, A S, Bouma, G

“…Celiac disease (CD) is a common gastro-intestinal disorder resulting from permanent intolerance to wheat gliadins and related proteins in rye and barley. In…”
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CTLA4+49 A/G and CT60 polymorphisms in Dutch coeliac disease patients by VAN BELZEN, Martine J, MULDER, Chris J. J, ZHERNAKOVA, Alexandra, PEARSON, Peter L, HOUWEN, Roderick H. J, WIJMENGA, Cisca

“…Coeliac disease is an autoimmune disorder, characterised by villous atrophy of the small intestine, which results from a T-cell-mediated response to…”
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The tissue transglutaminase gene is not a primary factor predisposing to celiac disease by van Belzen, M J, Mulder, C J J, Pearson, P L, Houwen, R H J, Wijmenga, C

“…The aim of this study was to determine whether the tissue transglutaminase (tTG) gene is a causal factor in the pathogenesis of celiac disease (CD). A total of…”
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The interferon gamma gene in celiac disease: augmented expression correlates with tissue damage but no evidence for genetic susceptibility by Wapenaar, Martin C., van Belzen, Martine J., Fransen, Justin H., Fariña Sarasqueta, Aranzazu, Houwen, Roderick H.J., Meijer, Jos W.R., Mulder, Chris J.J., Wijmenga, Cisca

“…Celiac disease (CD) is a complex genetic disorder characterized by gluten intolerance. The Th1 immune response, with a key position for interferon gamma…”
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A Genomewide Screen in a Four-Generation Dutch Family with Celiac Disease: Evidence for Linkage to Chromosomes 6 and 9 by VAN BELZEN, Martine J, VROLIJK, Martine M, MEIJER, Jos W. R, CRUSIUS, J. Bart A, PEARSON, Peter L, SANDKUIJL, Lodewijk A, HOUWEN, Roderick H. J, WIJMENGA, Cisca

“…Celiac disease is caused by the interaction of multiple genes and environmental factors. Inheritance of the disease shows a complex pattern with a 10% sibling…”
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