Navigation auf


Institute of Medical Genetics News, Events & Publications


ZORA note on the authors' stated information

  • In the exportable list, publications with less than 30 authors are transferred 1:1 to ZORA. No author names are deleted. --> Reason: complete metadata per publication, also for further use (e.g. in Swisscovery).
  • For publications with more (>30) authors, the authors are automatically truncated to the number 30 during import. In the same step, an "et al" is created.  If this leaves out UZH authors, they were added at the end, after "et al".
  • More information: Varia | University Library Zurich | UZH
  • For the complete listing of authors in order of publication, please use the authors list at the original publication. Or alternatively use the text file at the bottom of this page.

Exportable List

ZORA Publication List

Download Options




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