Yvonne Vos, PhD

MSc: Chemistry, Free University Amsterdam, 1982

PhD: "Genetics of L1 Syndrome" University of Groningen, 2010

See PubMed for her papers

Email: Y.J.Vos umcg.nl

Keywords: L1 syndrome, mutation analysis, genotype-phenotype analysis

Publications

• Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review Knopperts AP, Nielsen M, Niessen RC, Tops CM, Jorritsma B, Varkevisser J, Wijnen J, Siezen CL, Heine-Bröring RC, van Kranen HJ, Vos YJ, Westers H, Kampman E, Sijmons RH, Hes FJ. Fam Cancer. 2013 Mar;12(1):43-50.

• Adducted thumbs: A clinical clue to genetic diagnosis Verhagen JM, Schrander-Stumpel CT, Blezer MM, Weber JW, Schrander JJ, Rubio-Gozalbo ME, Bakker JA, Stegmann AP, Vos YJ, Frints SG. Eur J Med Genet. 2012 Dec 7. doi:pii: S1769-7212(12)00311-4. 10.1016/j.ejmg.2012.11.004. [Epub ahead of print]

• Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines Herkert JC, Niessen RC, Olderode-Berends MJ, Veenstra-Knol HE, Vos YJ, van der Klift HM, Scheenstra R, Tops CM, Karrenbeld A, Peters FT, Hofstra RM, Kleibeuker JH, Sijmons RH. Eur J Cancer. 2011;47(7):965-82.

• Congenital hydrocephalus in clinical practice: a genetic diagnostic approach Verhagen JM, Schrander-Stumpel CT, Krapels IP, de Die-Smulders CE, van Lint FH, Willekes C, Weber JW, Gavilanes AW, Macville MV, Stegmann AP, Engelen JJ, Bakker J, Vos YJ, Frints SG. Eur J Med Genet. 2011;54(6):e542-7.

• Screening for germline DND1 mutations in testicular cancer patients Sijmons RH, Vos YJ, Herkert JC, Bos KK, Holzik MF, Hoekstra-Weebers JE, Hofstra RM, Hoekstra HJ. Fam Cancer. 2010;9(3):439-42. Free PMC article

• A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome Van Riel E, Ausems MG, Hogervorst FB, Kluijt I, van Gijn ME, van Echtelt J, Scheidel-Jacobse K, Hennekam EF, Stulp RP, Vos YJ, Offerhaus GJ, Menko FH, Gille JJ. Hered Cancer Clin Pract. 2010;8(1):7. Free PMC article

• L1 syndrome. Schrander-Stumpel C, Vos YJ. In: GeneReviews at genetests: Medical Genetics Infomation Resource [online database] Copyright, University of Washington, Seattle, 1997-2004. (2004, updated 2006)
• Van gen naar ziekte; X-gebonden hydrocephalus en L1CAM. CTRM. Schrander-Stumpel, YJ Vos. Ned Tijdschr Geneeskd 2004; 148(29):1441-1443
• X-linked hydrocephalus: a novel missense mutation in the L1CAM gene. L Sztriha, YJ Vos, E Verlind, J Johansen, B Berg. Pediatr. Neurol 2002; 27:293-296

Links

http://www.genetests.org