2002

  • Isochromosomes. Wiley Encyclopedia of Molecular Medicine, Vol. 5, pp1832-1834. J. Wiley + Sons, Inc., New York (2002).
  • Schinzel A. Chromosome deletions and duplications. Wiley Encyclopedia of Molecular Medicine, Vol. 5, pp830-832. J. Wiley + Sons, Inc., New York (2002).
  • Czakó M, Riegel M, Morava E, Schinzel A, Kosztolányi G. Patient with rheumatoid arthritis and a MCA/MR syndrome due to unbalanced transmission of a paternal translocation t(18;20)(p11.1;p11.1). Am J Med Genet 2002;108:226-228.
  • Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A. Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. Prenat Diagn 2002; 22:418-421.
  • Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Brohammer M, Hergersberg M, de la Chapelle A, Weber BHF, Wissinger B, Meindl A, Pusch CM. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet 2002; 10:449-456.
  • Zankl A, Eberle L Molinari L, Schinzel A. Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years. Am J Med Genet 2002; 111:388-391.
  • Baumer A, Giovannucci Uzielli ML, Guarducci S, Lapi E, Röthlisberger B, Schinzel A. Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. Am J Med Genet 2002; 113:101-104.
  • Schinzel A. Werner Schmid, 13.2.1930 – 3.1.2002. medgen 2002; 14:88-89.
  • Riegel M, Schinzel A. Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palat: Another clefting gene locus on proximal 2q? Am J Med Genet 2002; 111 and 113:76-80 and 313.
  • Mutter M, Binkert F, Schinzel A. Down syndrome livebirth rate in the eastern part of Switzerland between 1980 and 1996 stays constant in spite of growing numbers of prenatally diagnosed and subsequently terminated cases. Prenat Diagn 2002; 22:835-836.
  • Schinzel A. Werner Schmid, 1930-2002. Cytogenet Genome Res 2002; 97:5-6.
  • Dorn T, Schinzel A. Genetik, gegenwärtiger Stand (in der Schweiz) und absehbare Entwicklungen. In: Krämer G, Wieser H-G Hrsg.). Epilepsie-Bericht Schweiz (2002). Hippocampus-Verlag, Bad Honneff, 2002, S. 40-45.
  • Baumer A. Analysis of the methylaton status of imprinted genes based on methylation-specific polymerase chain reaction combined with denaturing high-performance liquid chromatography. Methods 2002; 27:139-143.
  • Matin MM, Baumer A, Hornby DP. An analythical method for the deletion of methylation differences at specific chromosomal loci using primer extension and lon, pair reverse phase HPLC. Hum Mutat 2002; 20:305-311.
  • Binkert F, Mutter M, Schinzel A. Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996. Swiss Med Weekly 2002; 132:478-484.
  • Schwartz IV, Felix TM, Riegel M, Schuler-Faccini L. Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma. Clin Dysmorphol 2002; 11:199-202.
  • De Molfetta GA, Felix TM, Riegel M, Ferraz VE, Pina Neto JM. A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. Arq Neuropsiquiatr 2002; 60:1011-1014.