2008

  • Schulz A, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H. Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome Clinical Genetics 2008;73:62-70
  • Tschach A, Chen W, Erdogan F, Hoeller A, Ropers HH, Castellan C, Ullmann R, Schinzel A Characterization of interstitial Xp duplications in two families by tiling path array CGH American Journal of Medical Genetics 2008;146A:197-203
  • Schinzel A Congenital Malformations. All I wanted to know about congenital developmental defects. Book Review: RE Stevenson, JG Hall, Human Malformations and Related Anomalies, Second Edition, Oxford University Press, Oxford, UK, 2005 Eur J Hum Genet 2008;16:274
  • Kyburz A, Bauersfeld U, Schinzel A, Riegel M, Hug M, Tomaske M, Valsangiacomo Büchel ER The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: Clinical course and cardiac outcome Pediatr Cardiol 2008;29:76-83
  • Koolen DA, Sistermans EA, Nilessen W, Knight SIL, Regan R, Liu YT, Kooy RF, Rooms L, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, van Kessel AG, Nordenskjold M, de Vries BBA Identification of non-recurrent submicroscopic genome imbalancies: the advantage of genome-wide microarrays over targeted approaches Eur J Hum Genet 2008;16:395-400
  • Unger S, Böhm D, Kaiser FJ, Kaulfuss S, Borodzin W, Buiting K, Burfeind P, Böhm J, Barrinuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations Nat Genet 2008;40:287-289
  • Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O Duplications in additino to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation J Med Genet 2008;45:147-154
  • Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature Eur J Med Genet 2008;51:113-123
  • Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations J Med Genet 2008;45:200-209
  • Poretti A, Bartholdi D, Gobara S, Dietrich Alber F, Boltshauser E Gomez-Lopez-Hernandez syndrome: An easily missed diagnosis Eur J Med Genet 2008;51:197-208
  • Gaspar H, Albermann K, Baumer A, Schinzel A Clinical delineation of Giuffrè-Tsukahara syndrome: Another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance Am J Med Genet 2008;146A:1453-1457
  • Schinzel A Chromosomes came first. First years of human chromosomes. The beginnings of human cytogenetics Eur J Hum Genet 2008;16:766-767
  • Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazaurik ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz b, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature Int J Mol Med 2008;21:705-714