Functional Studies on Primary Tubular Epithelial Cells Indicate a Tumor Suppressor Role of SETD2 in Clear Cell Renal Cell Carcinoma von Li, Jun, Kluiver, Joost, Osinga, Jan, Westers, Helga, van Werkhoven, Maaike B, Seelen, Marc A, Sijmons, Rolf H, van den Berg, Anke, Kok, Klaas

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The Effects of Four Different Tyrosine Kinase Inhibitors on Medullary and Papillary Thyroid Cancer Cells von Verbeek, Hans H. G, Alves, Maria M, de Groot, Jan-Willem B, Osinga, Jan, Plukker, John T. M, Links, Thera P, Hofstra, Robert M. W

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Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene von van Tintelen, J. Peter, MD, Tio, Rene A., MD, PhD, Kerstjens-Frederikse, Wilhelmina S., MD, van Berlo, Jop H., MD, Boven, Ludolf G., BSc, Suurmeijer, Albert J.H., MD, PhD, White, Stefan J., PhD, den Dunnen, Johan T., PhD, te Meerman, Gerard J., PhD, Vos, Yvonne J., MSc, van der Hout, Annemarie H., PhD, Osinga, Jan, van den Berg, Maarten P., MD, PhD, van Veldhuisen, Dirk J., MD, PhD, Buys, Charles H.C.M., PhD, Hofstra, Robert M.W., PhD, Pinto, Yigal M., MD, PhD

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Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC development von Duns, Gerben, Hofstra, Robert M.W., Sietzema, Jantine G., Hollema, Harry, van Duivenbode, Inge, Kuik, Angela, Giezen, Cor, Jan, Osinga, Bergsma, Jelkje J., Bijnen, Harrie, van der Vlies, Pieter, van den Berg, Eva, Kok, Klaas

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RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor von MENACHO, Ivan Plaza, KOSTER, Roelof, EGGEN, Bart J. L, HOFSTRA, Robert M. W, VAN DER SLOOT, Almer M, QUAX, Wim J, OSINGA, Jan, VAN DER SLUIS, Tineke, HOLLEMA, Harry, BURZYNSKI, Grzegorz M, GIMM, Oliver, BUYS, Charles H. C. M

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Mutations in SCG10 are not involved in Hirschsprung disease von Alves, Maria M M, Osinga, Jan, Verheij, Joke B G M, Metzger, Marco, Eggen, Bart J L, Hofstra, Robert M W

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A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome von Drost, Mark, Tiersma, Yvonne, Thompson, Bryony A., Frederiksen, Jane H., Keijzers, Guido, Glubb, Dylan, Kathe, Scott, Osinga, Jan, Westers, Helga, Pappas, Lisa, Boucher, Kenneth M., Molenkamp, Siska, Zonneveld, José B., van Asperen, Christi J., Goldgar, David E., Wallace, Susan S., Sijmons, Rolf H., Spurdle, Amanda B., Rasmussen, Lene J., Greenblatt, Marc S., de Wind, Niels, Tavtigian, Sean V.

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Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease von Sribudiani, Yunia, Chauhan, Rajendra K., Alves, Maria M., Petrova, Lucy, Brosens, Erwin, Harrison, Colin, Wabbersen, Tara, de Graaf, Bianca M., Rügenbrink, Tim, Burzynski, Grzegorz, Brouwer, Rutger W.W., van IJcken, Wilfred F.J., Maas, Saskia M., de Klein, Annelies, Osinga, Jan, Eggen, Bart J.L., Burns, Alan J., Brooks, Alice S., Shepherd, Iain T., Hofstra, Robert M.W.

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Mutations in Hirschsprung Disease: When Does a Mutation Contribute to the Phenotype von Hofstra, Robert M.W., Osinga, Jan, Buys, Charles H.C.M.

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Variants in RET Associated With Hirschsprung's Disease Affect Binding of Transcription Factors and Gene Expression von Sribudiani, Yunia, Metzger, Marco, Osinga, Jan, Rey, Amanda, Burns, Alan J, Thapar, Nikhil, Hofstra, Robert M.W

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Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer von Kok, Klaas, Osinga, Jan, Carritt, Ben, Davis, Mary B, van der Hout, Annemarie H, van der Veen, Anneke Y, Landsvater, Rudy M, de Leij, Lou F. M. H, Berendsen, Henk H, Postmus, Pieter E, Poppema, Sibrand, Buys, Charles H. C. M

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Identifying Candidate Hirschsprung Disease–Associated RET Variants von Burzynski, Grzegorz M., Nolte, Ilja M., Bronda, Agnes, Bos, Krista K., Osinga, Jan, Plaza Menacho, Ivan, Twigt, Bas, Maas, Saskia, Brooks, Alice S., Joke Verheij, B.G.M., Charles Buys, H.C.M., Robert Hofstra, M.W.

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A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) von Hofstra, Robert M.W, Osinga, Jan, Tan-Sindhunata, Gita, Wu, Ying, Kamsteeg, Erik-J, Stulp, Rein P, Ravenswaaij-Arts, Conny van, Majoor-Krakauer, Daniëlle, Angrist, Misha, Chakravarti, Aravinda, Meijers, Carel, Buys, Charles H.C.M

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Localizing a putative mutation as the major contributor to the development of sporadic hirschsprung disease to the RET genomic sequence between the promoter region and exon 2 von BURZYNSKI, Grzegorz M, NOLTE, Ilja M, HOFSTRA, Robert M. W, OSINGA, Jan, CECCHERINI, Isabella, TWIGT, Bas, MAAS, Saskia, BROOKS, Alice, VERHEIJ, Joke, MENACHO, Ivan Plaza, BUYS, Charles H. C. M

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MUTYH and the mismatch repair system : partners in crime? von NIESSEN, Renée C, SIJMONS, Rolf H, DE BOCK, Geertruida H, BUYS, Charles H. C. M, KLEIBEUKER, Jan H, HOFSTRA, Robert M. W, OU, J, OLTHOF, Sandra G. M, OSINGA, Jan, LIGTENBERG, Marjolijn J, HOGERVORST, Frans B. L, WEISS, Marjan M, TOPS, Carli M. J, HES, Frederik J

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A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease von Griseri, Paola, Pesce, Barbara, Patrone, Giovanna, Osinga, Jan, Puppo, Francesca, Sancandi, Monica, Hofstra, Robert, Romeo, Giovanni, Ravazzolo, Roberto, Devoto, Marcella, Ceccherini, Isabella

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MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis von Wu, Ying, Nyström-Lahti, Minna, Osinga, Jan, Looman, Maaike W. G., Peltomäki, Päivi, Aaltonen, Lauri A., de la Chapelle, Albert, Hofstra, Robert M. W., Buys, Charles H. C. M.

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Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis von Hayes, V M, Wu, Y, Osinga, J, Mulder, I M, van der Vlies, P, Elfferich, P, Buys, C H, Hofstra, R M

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RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems von Hofstra, Robert M.W., Wu, Ying, Stulp, Rein P., Elfferich, Peter, Osinga, Jan, Maas, Saskia M., Siderius, Liesbeth, Brooks, Alice S., vd Ende, Jenneke J., Heydendael, Vera M.R., Severijnen, René S.V.M., Bax, Klaas M.A., Meijers, Carel, Buys, Charles H.C.M.

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A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) von Brooks, Alice S, Breuning, Martijn H, Osinga, Jan, Smagt, Jasper J vd, Catsman, Corine E, Buys, Charles H C M, Meijers, Carel, Hofstra, Robert M W

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