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mutation cancer patient family analysis number study genet department university population genetic deletion syndrome melanoma carrier region probe disease research variant netherland individual testing germline result copy numbers hlrcc pancreatic cancer phenotype leiomyoma counseling table hnpcc sequence marfan syndrome cell cancer member msh 6 mutation fh mutation analysis uterine genome feature hirschsprung disease family members carcinoma colorectal genomic dutch variation uterine leiomyomas fh mutation carriers center tumour cutaneou patient-reported hirschsprung health fbn 1 gene fh germline mutations outcome quality pancreatic level endometrial fbn 1 allele marfan fumarate allele report factor leiomyomatosi hydratase journal model array uptake criteria counselee cell carcinoma
9 Most Recent Publications
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Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
(Article)
Smit, D.L. Mensenkamp, A.R. Hoefsloot, L.H. Moorselaar, R.J.A. van Starink, T.M. Bayley, J.P. Frank, J. Steensel, M.A.M. van Menko, F. Badeloe, S. Breuning, M.H. Simon, M.E.H. Spaendonck, K.Y. van Aalfs, C. Post, J.G. Shanley, S. Krapels, I.P.C. |
2011-01-01
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
(Article)
Dauwerse, J.G. Dixon, J. Zweier, C. Kerr, B. Cobo, A.M. Toral, J.F. Hoogeboom, A.J.M. Lohmann, D.R. Hehr, U. Dixon, M.J. Breuning, M.H. Wieczorek, D. Seland, S. Ruivenkamp, C.A. Haeringen, A. van Hoefsloot, L.H. Peters, D.J.M. Boers, A.C.-d. Daumer-Haas, C. Maiwald, R. |
2010-12-05
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The clinical spectrum of complete FBN1 allele deletions
(Article)
Hilhorst-Hofstee, Y. Hamel, B.C. Moll, H.A. Breuning, M.H. Pals, G. Verheij, J.B. Rijlaarsdam, M.E. Mancini, G.M. Cobben, J.M. Giroth, C. Ruivenkamp, C.A. Hansson, K.B. Timmermans, J. |
2010-11-10
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Genetic testing in familial melanoma: Uptake and implications
(Article)
Snoo, F.A. de Riedijk, S.R. Breuning, M.H. Tibben, A. Mil, A.M. van Bergman, W. Huume, J.A.C. ter Timman, R. Bertina, W. Gruis, N.A. Vasen, H. Haeringen, A. van |
2008-08-01
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Variation of CNV distribution in five different ethnic populations
(Article)
White, S.J. Vissers, L.E.L.M. Dunnen, J.T. den Veltman, J.A. Geurts van Kessel, A.H.M. Menezes, R.X. de Kalay, E. Lehesjoki, A.E. Giordano, P.C. Vosse, E. van de Breuning, M.H. Brunner, H.G. |
2007-09-01
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Analysis of published PKD1 gene sequence variants [3]
(Article)
Gout, A.M. Ravine, D. Thongnoppakhun, W. Yenchitsomanus, P.-T. Deltas, C. Sandford, R. Torra, R. Turco, A.E. Jeffery, S. Fontes, M. Somlo, S. Furu, L.M. Harris, P.C. Smulders, Y.M. Mercier, B. Férec, C. Burtey, S. Pei, Y. Kalaydjieva, L. Bogdanova, N. McCluskey, M. Geon, L.J. Wouters, C.H. Rossetti, S. Reiterova, J. Stekrová, J. San Millan, J.L. Aguiari, G. Senno, L.D. Peters, D. Breuning, M.H. Henske, E.P. Koizumi, A. Inoue, S. Shimizu, Y. |
2007-04-01
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A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis
(Article)
Njajou, O.T. Vaessen, N. Dongen, J.W.F. van Heutink, P. Joosse, M. Berghuis, B. Breuning, M.H. Snijders, P.J.L.M. Rutten, W.P.F. Sandkuijl, L.A. Oostra, B.A. Duijn, C.M. van |
2001-07-20
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Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree
(Article)
Wagner, A. Krimpen, C. van Breuning, M.H. Meer, C. van der Vasen, H.F. Niermeijer, M.F. Lindhout, D. Hendriks, Y. Meijers-Heijboer, E.J. Wijnen, J. Leeuw, W.J. de Morreau, H. Hofstra, R. Tops, C. Cornelisse, C.J. Zwinderman, A.H. Bik, E. Brocker-Vriends, A.H. Fodde, R. |
2001-01-01
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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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