2005

  • So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughranJ, McKenzie F, Opitz JM, Cox T, Schweiger S Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations Am J Med Genet 2005; 132A: 1-7
  • Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A Mosaic Imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome Eur J Hum Genet 2005; 13:273-277
  • Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen G-JB, Breuning MH, Hennekam RC, Peters DJM Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease Am J Hum Genet 2005;76:572-580
  • Schinzel A Chromosome Aberrations pp. 235-251, in: Paediatric Neurology. Theory and Practice. Ed. Christos P. Panteliadis and Rudolf Korinthenberg, 2005. Georg Thieme, Stuttgart-New York
  • De Scipio C, Schneider L, Young TL, Wassermann N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AGL, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome Am J Med Genet 2005;134A:3-11
  • Riegel M, Hargreaves P, Baumer A, Guc-Scekic M, Ignjatovic M, Schinzel A Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21 Eur J Med Genet 2005;48:167-174
  • Riegel M, Baumer A, Süss J, Schinzel A An unusual reciprocal translocation detected by subtelomeric FISH: Interstitial and not terminal Am J Med Genet 2005; 135A:86-90
  • Kloeckener-Gruissem B, Betts DR, Zankl A, Berger W, Güngör T A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9 Am J Med Genet 2005; 136A/138A:31-37/19
  • Vermeesch JR, Melotte C, Salden I, Riegel M, Trifnov V, Polityko A, Rumyantseva N, Naumchik I, Starke H, Matthijs G, Schinzel A, Fryns J-P, Liehr T Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype Eur J Med Genet 2005; 48:319-327
  • Manguoglu E, Berker-Karaüzüm S, Baumer A, Mihçi E, Taçoy S, Lüleci G, Schinzel A A case with de novo interstitial deletion of chromosome 7q21.1-q22 Genet Couns 2005;16:155-159