2007

  • Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D, Petersen MB, Shears D, Stolte-Dijkstra I, Van Hagen JM, Ala-Kokko L, Männikkö M, Mortier GR A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies Am J Med Genet 2007;143A:258-264
  • Rochat MK, Riegel M, Schinzel AA Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review Am J Med Genet 2007;143A:399-408
  • Tyshchenko NA, Riegel M, Evseenkova EG, Zerova TE, Gorovenko NG, Schinzel A Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations Eur J Med Genet 2007;50:128-132
  • Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJM Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300 J Med Genet 2007;44:327-333
  • Ceylaner G, Ceylaner S, Danışman N, Ergün A, Ekici E, Schinzel A, Baumer A Chromosomal heteromorphisms may help fort he diagnosis of uniparental disomy (UPD): a case report Prenat Diagn 2007;27:1072-1074
  • Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome J Med Genet 2007;44:651-656
  • Baumer A, Basaran S, Taralczak M, Cefle K, Ozturk S, Palanduz S, Schinzel A Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male Cytogenet Genome Res 2007;18:38-41
  • De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vtro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero B, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previdero C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients J Med Genet 2007;44:750-762