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mutation disease patient hirschsprung medullary thyroid carcinoma hirschsprung disease syndrome genet thyroid medullary cancer protein marker carcinoma expression receptor study calcitonin family tumours microtubule medullary thyroid cancer biomarker development ret proto-oncogene ednrb level men 2 b analysis retardation anomaly feature imaging scg 10 instability plasma university pentaplex assay system pcr products result tumour defect mtc patients pentaplex table colon microcephaly sample assay enteric interaction proto-oncogene hofstra pediatr genetic amiel j ceccherini i tumor endocrinol erasmus universiteit rotterdam van veelen product kiaa 1279 stage growth treatment detection zebra microsatellite antibody men 2 groningen tyrosine kinase locus lyonnet ret gene mouse eng c
9 Most Recent Publications
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Building a brain in the gut: Development of the enteric nervous system
(Article)
Goldstein, A.M. Hofstra, R.M. Burns, A.J. |
2013-04-01
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Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations
(Article)
Werf, C.S. van der Sribudiani, Y. Verheij, J.B. Carroll, M. O'Loughlin, E. Chen, C.H. Brooks, A.S. Liszewski, M.K. Atkinson, J.P. Hofstra, R.M. |
2013-04-01
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Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats
(Article)
You, J.F. Buhard, O. Collura, A. Flejou, J.F. Duval, A. Hamelin, R. Ligtenberg, M. Kets, C.M. Niessen, R.C. Hofstra, R.M. Wagner, A. Dinjens, W.N.M. Colas, C. Lascols, O. |
2010-12-07
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KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation
(Article)
Alves, M.M. Burzynski, G.M. Shepherd, I.T. Eggen, B.J. Hofstra, R.M. Delalande, J.M. Osinga, J. Goot, A. van der Dolga, A.M. Graaff, E. de Brooks, A.S. Metzger, M. Eisel, U.L.M. |
2010-07-09
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Medullary thyroid carcinoma and biomarkers: Past, present and future
(Article)
Veelen, W. van Groot, J.W.B. de Acton, D.S. Hofstra, R.M. Höppener, J.W.M. Links, T.P. Lips, C.J.M. |
2009-07-01
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Hirschsprung disease, associated syndromes and genetics: A review
(Article)
Amiel, J. Sproat-Emison, E. Brooks, A.S. Antinolo, G. Pontual, L. de Clement-Ziza, M. Munnich, A. Kashuk, C. West, K. Wong, K.K.Y. Lyonnet, S. Chakravarti, A. Garcia-Barcelo, M. Tam, P.K.H. Ceccherini, I. Hofstra, R.M. Fernandez, R. Lantieri, F. Burzynski, G.M. Borrego, S. Pelet, A. Arnold, S. Miao, X. Griseri, P. |
2008-01-01
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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems
(Article)
Brooks, A.S. Breedveld, G.J. Meijers, C. Coo, R.F. de Oostra, B.A. Matera, I. Bertoli Avella, A.M. Burzynski, G.M. Graaff, E. de Tibboel, D. Osinga, J. Boven, L.G. Hurst, J.A. Willems, P.J. Hofstra, R.M. Mancini, G.M.S. Lequin, M.H. |
2005-01-01
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A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)
(Article)
Brooks, A.S. Breuning, M.H. Osinga, J. Smagt, J.J. van der Catsman-Berrevoets, C.E. Buys, C.H.C.M. Meijers, C. Hofstra, R.M. |
1999-01-01
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Constipation as the presenting symptom in de novo multiple endocrine neoplasia type 2B
(Article)
Krijger, R.R. de Brooks, A.S. Harst, E. van der Hofstra, R.M. Bruining, H.A. Molenaar, J.C. Meijers, C. |
1998-01-01
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