Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
van der Klift, Heleen M., Mensenkamp, Arjen R., Drost, Mark, Bik, Elsa C., Vos, Yvonne J., Gille, Hans J.J.P., Redeker, Bert E.J.W., Tiersma, Yvonne, Zonneveld, José B.M., García, Encarna Gómez, Letteboer, Tom G.W., Olderode-Berends, Maran J.W., van Hest, Liselotte P., van Os, Theo A., Verhoef, Senno, Wagner, Anja, van Asperen, Christi J., ten Broeke, Sanne W., Hes, Frederik J., de Wind, Niels, Nielsen, Maartje, Devilee, Peter, Ligtenberg, Marjolijn J.L., Wijnen, Juul T., Tops, Carli M.J.
Published in Human mutation (01.11.2016)
Published in Human mutation (01.11.2016)
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Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation
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Published in European journal of cancer (1990) (01.07.2017)
Published in European journal of cancer (1990) (01.07.2017)
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Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study
Postema, Floor A M, Hopman, Saskia M J, de Borgie, Corianne A J M, Hammond, Peter, Hennekam, Raoul C, Merks, Johannes H M, Aalfs, Cora M, Anninga, Jakob K, Berger, Lieke PV, Bleeker, Fonnet E, de Bont, Eveline SJM, de Borgie, Corianne AJM, Dommering, Charlotte J, van Eijkelenburg, Natasha KA, Hammond, Peter, Hennekam, Raoul C, van den Heuvel-Eibrink, Marry M, Hopman, Saskia MJ, Jongmans, Marjolijn CJ, Kors, Wijnanda A, Letteboer, Tom GW, Loeffen, Jan LCM, Merks, Johannes HM, Olderode-Berends, Maran JW, Postema, Floor AM, Wagner, Anja
Published in BMJ open (01.01.2017)
Published in BMJ open (01.01.2017)
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Split hand foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism
VAN SILFHOUT, Anneke T, VAN DEN AKKER, Peter C, DIJKHUIZEN, Trijnie, VERHEIJ, Joke Bgm, OLDERODE-BERENDS, Maran Jw, KOK, Klaas, SIKKEMA-RADDATZ, Birgit, VAN RAVENSWAAIJ-ARTS, Conny Ma
Published in European journal of human genetics : EJHG (01.11.2009)
Published in European journal of human genetics : EJHG (01.11.2009)
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