2006

  • Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllermann M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J Angelman syndrome 2005: Updated consensus for diagnostic criteria Am J Med Genet 2006;140A:413-418
  • Riegel M, Wisser J, Baumer A, Schinzel A Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations Prenat Diagn 2006;26:221-225
  • Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshasuer E, Schinzel A, Berger W, Mátyás G Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene Clin Genet 2006;69:319-326
  • Gaspar H, Michel-Calemard L, Morel Y, Wisser J, Stallmach T, Schinzel A Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy Prenat Diagn 2006;26:392-393
  • Niedrist D, Riegel M, Achermann J, Schinzel A Survival with trisomy 18 – data from Switzerland Am J Med Genet 2006;140A:952-959
  • Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W Identification of the genetic defect in the original Wagner syndrome family Molecular Vision 2006;12:350-355
  • Santos RLP, Häfner FM, Huygen PLM, Linder TE, Schinzel AA, Spillmann T Leal SM Phenotypic characterization of DFNA 24: Prelingual sensorineural hearing impairment Audiol Neurotol 2006;11:269-275
  • Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D Pre- and postnatal findings in trisomy 17 mosaicism Am J Med Genet 2006;140A:1628-1636
  • Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BBA, Van Ravenswaaj CMA, Schinzel A European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities Eur J Med Genet 2006;49:279-291
  • Koolen DA, Vissers LELM, Pfundt R, de Leeuw N, Knight SJL, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid B-M, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BBA A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism Nat Genet 2006;38:999-1001
  • Schinzel A, Klinische Beispiele von Chromosomenaberrationen In: Murken J, Grimm T, Holinski-Feder E, Taschenlehrbuch Humangenetik, 7.A., Thieme (Stuttgart/New York) 2006, S. 199-234
  • Niedrist D, Riegel M, Achermann J, Rousson V, Schinzel A Trisomy 18: Changes in sex ratio during intrauterine life Am J Med Genet 2006;140A:2365-2367
  • Borodzin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: Detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations Hum Mutat 2006; MiB #920:Online
  • Kniestedt C, Taralczak M, Thiel MA, Stuermer J, Baumer A, Gloor BP A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs’ endothelial dystrophy Ophthalmology 2006; 113:1791.e1-8
  • Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tönnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24) Ann Hum Genet 2006; 70:958-964
  • Pajic B, Weigell-Weber M, Schipper I, Kryenbuhl C, Buchi ER, Spiegel R, Hergersberg M A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy Retina 2006;26(8):947-953