Found: 6

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  • Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1432, doi. 10.1038/ejhg.2009.72
    By:
    • van Silfhout, Anneke T.;
    • van den Akker, Peter C.;
    • Dijkhuizen, Trijnie;
    • Verheij, Joke B. G. M.;
    • Olderode-Berends, Maran J. W.;
    • Kok, Klaas;
    • Sikkema-Raddatz, Birgit;
    • van Ravenswaaij-Arts, Conny M. A.
    Publication type:
    Article

  • Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

    Published in:
    Familial Cancer, 2021, v. 20, n. 4, p. 263, doi. 10.1007/s10689-021-00237-1
    By:
    • Postema, Floor A. M.;
    • Hopman, Saskia M. J.;
    • de Borgie, Corianne A. J. M.;
    • Aalfs, Cora M.;
    • Anninga, Jakob K.;
    • Berger, Lieke P. V.;
    • Bleeker, Fonnet E.;
    • Dommering, Charlotte J.;
    • van Eijkelenburg, Natasha K. A.;
    • Hammond, Peter;
    • van den Heuvel-Eibrink, Marry M.;
    • Hol, Janna A.;
    • Kors, Wijnanda A.;
    • Letteboer, Tom G. W.;
    • Loeffen, Jan L. C. M.;
    • Meijer, Lisethe;
    • Olderode-Berends, Maran J. W.;
    • Wagner, Anja;
    • Hennekam, Raoul C.;
    • Merks, Johannes H. M.
    Publication type:
    Article

  • The incidence of consecutive manifestations in Von Hippel-Lindau disease.

    Published in:
    Familial Cancer, 2019, v. 18, n. 3, p. 369, doi. 10.1007/s10689-019-00131-x
    By:
    • van der Horst-Schrivers, Anouk N. A.;
    • Sluiter, Wim J.;
    • Kruizinga, Roeliene C.;
    • van Leeuwaarde, Rachel S.;
    • Giles, Rachel;
    • Olderode-Berends, Maran J. W.;
    • Links, Thera P.
    Publication type:
    Article

  • SNP association study in PMS2-associated Lynch syndrome.

    Published in:
    Familial Cancer, 2018, v. 17, n. 4, p. 507, doi. 10.1007/s10689-017-0061-3
    By:
    • ten Broeke, Sanne W.;
    • Elsayed, Fadwa A.;
    • Pagan, Lisa;
    • Olderode-Berends, Maran J. W.;
    • Garcia, Encarna Gomez;
    • Gille, Hans J. P.;
    • van Hest, Liselot P.;
    • Letteboer, Tom G. W.;
    • van der Kolk, Lizet E.;
    • Mensenkamp, Arjen R.;
    • van Os, Theo A.;
    • Spruijt, Liesbeth;
    • Redeker, Bert J. W.;
    • Suerink, Manon;
    • Vos, Yvonne J.;
    • Wagner, Anja;
    • Wijnen, Juul T.;
    • Steyerberg, E. W.;
    • Tops, Carli M. J.;
    • van Wezel, Tom
    Publication type:
    Article

  • Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

    Published in:
    Genes, Chromosomes & Cancer, 2009, v. 48, n. 8, p. 737, doi. 10.1002/gcc.20678
    By:
    • Niessen, Renée C.;
    • Hofstra, Robert M. W.;
    • Westers, Helga;
    • Ligtenberg, Marjolijn J. L.;
    • Kooi, Krista;
    • Jager, Paul O. J.;
    • de Groote, Marloes L.;
    • Dijkhuizen, Trijnie;
    • Olderode-Berends, Maran J. W.;
    • Hollema, Harry;
    • Kleibeuker, Jan H.;
    • Sijmons, Rolf H.
    Publication type:
    Article

  • Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2023, v. 115, n. 1, p. 93, doi. 10.1093/jnci/djac188
    By:
    • Hendricks, Linda A J;
    • Hoogerbrugge, Nicoline;
    • Mensenkamp, Arjen R;
    • Brunet, Joan;
    • Lleuger-Pujol, Roser;
    • Høberg-Vetti, Hildegunn;
    • Haavind, Marianne Tveit;
    • Innella, Giovanni;
    • Turchetti, Daniela;
    • Aretz, Stefan;
    • Spier, Isabel;
    • Tischkowitz, Marc;
    • Jahn, Arne;
    • Links, Thera P;
    • Olderode-Berends, Maran J W;
    • Blatnik, Ana;
    • Leter, Edward M;
    • Evans, D Gareth;
    • Woodward, Emma R;
    • Steinke-Lange, Verena
    Publication type:
    Article