Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

Por Stulp, Rein P, Herkert, Johanna C, Karrenbeld, Arend, Mol, Bart, Vos, Yvonne J, Sijmons, Rolf H
Publicado em 2008

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

Por Sentner, Christiaan P, Vos, Yvonne J, Niezen-Koning, Klary N, Mol, Bart, Smit, G Peter A.
Publicado em 2012

First report of a de novo germline mutation in the MLH1 gene

Por Stulp, Rein P, Vos, Yvonne J, Mol, Bart, Karrenbeld, Arend, de Raad, Monique, van der Mijle, Huub JC, Sijmons, Rolf H
Publicado em 2006

Screening for germline DND1 mutations in testicular cancer patients

Por Sijmons, Rolf H., Vos, Yvonne J., Herkert, Johanna C., Bos, Krista K., Holzik, Martijn F. Lutke, Hoekstra-Weebers, Josette E. H. M., Hofstra, Robert M. W., Hoekstra, Harald J.
Publicado em 2010

A novel pathogenic <it>MLH1 </it>missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

Por van Riel Els, Ausems Margreet GEM, Hogervorst Frans BL, Kluijt Irma, van Gijn Marielle E, van Echtelt Jeanne, Scheidel-Jacobse Karen, Hennekam Eric FAM, Stulp Rein P, Vos Yvonne J, Offerhaus G Johan A, Menko Fred H, Gille Johan JP
Publicado em 2010-08-01

A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

Por van Riel, Els, Ausems, Margreet GEM, Hogervorst, Frans BL, Kluijt, Irma, van Gijn, Marielle E, van Echtelt, Jeanne, Scheidel-Jacobse, Karen, Hennekam, Eric FAM, Stulp, Rein P, Vos, Yvonne J, Offerhaus, G Johan A, Menko, Fred H, Gille, Johan JP
Publicado em 2010

Structural Variation of Chromosomes in Autism Spectrum Disorder

Por Marshall, Christian R., Noor, Abdul, Vincent, John B., Lionel, Anath C., Feuk, Lars, Skaug, Jennifer, Shago, Mary, Moessner, Rainald, Pinto, Dalila, Ren, Yan, Thiruvahindrapduram, Bhooma, Fiebig, Andreas, Schreiber, Stefan, Friedman, Jan, Ketelaars, Cees E.J., Vos, Yvonne J., Ficicioglu, Can, Kirkpatrick, Susan, Nicolson, Rob, Sloman, Leon, Summers, Anne, Gibbons, Clare A., Teebi, Ahmad, Chitayat, David, Weksberg, Rosanna, Thompson, Ann, Vardy, Cathy, Crosbie, Vicki, Luscombe, Sandra, Baatjes, Rebecca, Zwaigenbaum, Lonnie, Roberts, Wendy, Fernandez, Bridget, Szatmari, Peter, Scherer, Stephen W.
Publicado em 2008