R H Vossen

Publications (6)32.69 Total impact

• Source

  Available from: Egbert Bakker

  Article: The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.

  E Bakker, C Wijmenga, R H Vossen, G W Padberg, J Hewitt, M van der Wielen, K Rasmussen, R R Frants
  [show abstract] [hide abstract]
  ABSTRACT: Facioscapulohumeral muscular dystrophy (FSHD) has recently been shown to be associated with deletions that are detectable using probe p13E-11 (D4F104S1). Although these deletions reside within large, highly polymorphic restriction fragments (20-300 kb), the "mutant" fragment is usually shorter than 28 kb and can routinely be detected using conventional agarose gel electrophoresis. Yet, the complete visualization of the alleles requires pulsed-field gel electrophoresis (PFGE). Family studies showed that p13E-11 detects two nonallelic loci in this size range, only one of which originates from chromosome 4q35. We have assigned the other p13E-11 locus to chromosome 10qter by linkage analysis in CEPH pedigrees. Knowing the location of both loci improves the diagnostic reliability, as the exact origin of "small" EcoRI fragments can be determined by haplotyping. Since FSHD shows genetic heterogeneity, this 10qter locus became an interesting candidate to be the second FSHD locus. However, analysis of a large chromosome 4-unlinked FSHD family did not provide evidence for linkage on chromosome 10qter.
  Muscle & Nerve 02/1995; 2:S39-44. · 2.37 Impact Factor
• Article: A CA repeat polymorphism at D11S1383.

  J J Saris, R H Vossen, E Bakker
  Human Molecular Genetics 04/1994; 3(3):522. · 7.64 Impact Factor
• Article: Evidence for the absence of intron H of the histidine-rich glycoprotein (HRG) gene: genetic mapping and in situ localization of HRG to chromosome 3q28-q29.

  B C Hennis, R R Frants, E Bakker, R H Vossen, E W van der Poort, L A Blonden, S Cox, P M Khan, N K Spurr, C Kluft
  Genomics 02/1994; 19(1):195-7. · 3.02 Impact Factor
• Article: Dinucleotide repeat polymorphism at D16S533.

  A M Cleton-Jansen, H W Moerland, R H Vossen, D F Callen, M H Breuning, P Devilee
  Human Molecular Genetics 02/1994; 3(1):216. · 7.64 Impact Factor
• Article: The EUROGEM map of human chromosome 4.

  E Bakker, R H Vossen, B P Riley, R Sherrington, G Vergnaud, N M Pearson
  European Journal of HumanGenetics 02/1994; 2(3):210-1. · 4.40 Impact Factor
• Article: A CA-repeat polymorphism near DXS418 (P122).

  E Van De Vosse, P F Booms, R H Vossen, M C Wapenaar, G J Van Ommen, J T Den Dunnen
  Human Molecular Genetics 01/1994; 2(12):2202. · 7.64 Impact Factor