Benign and malignant tumors in Rubinstein–Taybi syndrome
Boot, Max V., van Belzen, Martine J., Overbeek, Lucy I., Hijmering, Nathalie, Mendeville, Matias, Waisfisz, Quinten, Wesseling, Pieter, Hennekam, Raoul C., de Jong, Daphne
Published in American journal of medical genetics. Part A (01.03.2018)
Published in American journal of medical genetics. Part A (01.03.2018)
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Journal Article
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL
Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, Belzen, Martine J., Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.
Published in Annals of clinical and translational neurology (01.11.2016)
Published in Annals of clinical and translational neurology (01.11.2016)
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Journal Article
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Diets, Illja J, Waanders, Esmé, Ligtenberg, Marjolijn J, van Bladel, Diede A G, Kamping, Eveline J, Hoogerbrugge, Peter M, Hopman, Saskia, Olderode-Berends, Maran J, Gerkes, Erica H, Koolen, David A, Marcelis, Carlo, Santen, Gijs W, van Belzen, Martine J, Mordaunt, Dylan, McGregor, Lesley, Thompson, Elizabeth, Kattamis, Antonis, Pastorczak, Agata, Mlynarski, Wojciech, Ilencikova, Denisa, van Silfhout, Anneke Vulto, Gardeitchik, Thatjana, de Bont, Eveline S, Loeffen, Jan, Wagner, Anja, Mensenkamp, Arjen R, Kuiper, Roland P, Hoogerbrugge, Nicoline, Jongmans, Marjolijn C
Published in Clinical cancer research (01.04.2018)
Published in Clinical cancer research (01.04.2018)
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Journal Article
Two novel cases expanding the phenotype of SETD2‐related overgrowth syndrome
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.
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
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Journal Article
Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes
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
Published in Brain (London, England : 1878) (01.07.2017)
Published in Brain (London, England : 1878) (01.07.2017)
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Journal Article
Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease
Gardiner, Sarah L., Harder, Aster V.E., Campman, Yvonne J.M., Trompet, Stella, Gussekloo, Jacobijn, van Belzen, Martine J., Boogaard, Merel W., Roos, Raymund A.C., Jansen, Iris E., Pijnenburg, Yolande A.L., Scheltens, Philip, van der Flier, Wiesje M., Aziz, N. Ahmad
Published in Neurobiology of aging (01.01.2019)
Published in Neurobiology of aging (01.01.2019)
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Journal Article
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype
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, van Ravenswaaij-Arts, Conny M. A., Tartaglia, Marco, Hennekam, Raoul C. M.
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
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Journal Article
A Genomewide Screen in a Four-Generation Dutch Family with Celiac Disease: Evidence for Linkage to Chromosomes 6 and 9
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
Published in The American journal of gastroenterology (01.03.2004)
Published in The American journal of gastroenterology (01.03.2004)
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Journal Article
Huntingtin gene repeat size variations affect risk of lifetime depression
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
Published in Translational psychiatry (11.12.2017)
Published in Translational psychiatry (11.12.2017)
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Journal Article
Reply: Late onset Huntington's disease with 29 CAG repeat expansion
Oosterloo, Mayke, Van Belzen, Martine J, Bijlsma, Emilia K, Roos, Raymund A.C
Published in Journal of the neurological sciences (15.09.2016)
Published in Journal of the neurological sciences (15.09.2016)
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Journal Article
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma
van den Oever, Jessica M. E., Bijlsma, Emilia K., Feenstra, Ilse, Muntjewerff, Nienke, Mathijssen, Inge B., Bakker, Egbert, van Belzen, Martine J., Boon, Elles M. J.
Published in Prenatal diagnosis (01.10.2015)
Published in Prenatal diagnosis (01.10.2015)
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Journal Article
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes
de Vries, Tamar I, Monroe, Glen R, van Belzen, Martine J, van der Lans, Christian A, Savelberg, Sanne Mc, Newman, William G, van Haaften, Gijs, Nievelstein, Rutger A, van Haelst, Mieke M
Published in European journal of human genetics : EJHG (01.08.2016)
Published in European journal of human genetics : EJHG (01.08.2016)
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Journal Article
Making (anti-) sense out of huntingtin levels in Huntington disease
Evers, Melvin M, Schut, Menno H, Pepers, Barry A, Atalar, Melek, van Belzen, Martine J, Faull, Richard Lm, Roos, Raymund Ac, van Roon-Mom, Willeke M C
Published in Molecular neurodegeneration (28.04.2015)
Published in Molecular neurodegeneration (28.04.2015)
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Journal Article
A new mutation for Huntington disease following maternal transmission of an intermediate allele
Semaka, Alicia, Kay, Chris, Belfroid, René D.M, Bijlsma, Emilia K, Losekoot, Monique, van Langen, Irene M, van Maarle, Merel C, Oosterloo, Mayke, Hayden, Michael R, van Belzen, Martine J
Published in European journal of medical genetics (01.01.2015)
Published in European journal of medical genetics (01.01.2015)
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Journal Article
A major non-HLA locus in celiac disease maps to chromosome 19
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
Published in Gastroenterology (New York, N.Y. 1943) (01.10.2003)
Published in Gastroenterology (New York, N.Y. 1943) (01.10.2003)
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Journal Article
The interferon gamma gene in celiac disease: augmented expression correlates with tissue damage but no evidence for genetic susceptibility
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
Published in Journal of autoimmunity (01.09.2004)
Published in Journal of autoimmunity (01.09.2004)
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