1998

  • Fokstuen S, Arbenz U, Artan S, Dutly F, Bauersfeld U, Brecevic L, Fasnacht M, Röthlisberger B, Schinzel A. 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clin Genet 1998;53:63-69
  • Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich D, Schinzel AA. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet 1998; 35: 130-136
  • Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A. Isochromosomes 12q und 9p: parental origin and possible mechanisms of formation. Eur J Hum Genet 1998: 6, 140-144
  • Riesewijk AM, Blagitko N, Schinzel AA, Hu L, Schulz U, Hamel BCJ, Ropers HH, Kalscheuer VM. Evidence against a major role of PEG1/MEST in Silver-Russell syndrome. Eur J hum Genet (1998) 6, 114-120
  • Moser C, Hany A, Spiegel R. Familiäre Riesenhämangiome der Leber. Praxis 1998; 87:461-468
  • Baumer A, Dutly F, Balmer D, Riegel M, Tükel T, Krajewska-Walasek M, Schinzel AA. High level of unequal meiotic crossovers at the origin of the 22q11 and 7q11.23 deletions. Hum Mol Genet, 1998; 7: 887-894
  • Schinzel A, Gundelfinger R, Dutly F, Baumer A, Binkert F. A 5-year old girl with interstitial deletion of 3p14: clinical, psychologic, cytogenetic, and molecular studies. Am J Med Genet 1998;77:302-305
  • Chrzanowska KH, Krajewska-Walasek MK, Kus J, Michalkiewicz J, Maziarka D, Wolski JK, Brecewic L, Madalinski K. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency. Clin Genet 1998: 53: 308-312
  • Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze W, Brondum-Nielsen K, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. Maternal meiosis I non-disjunciotn of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet, 1998;7: 1011-1019
  • Berkhoff M, Sturzenegger M, Spiegel R, Rösler KM, Hess CW. X-chromosomale bulbospinale Muskelatrophie (Kennedy-Syndrom). Schweiz Med Wochenschr 1998; 128; 817-23
  • Grob M, Wyss M, Spycher MA, Domman S, Schinzel A, Burg G, Trüeb RM. Histopathologic and ultrastructural study of lupus-like skin lesions in a pation with Bloom syndrome. J Cutan Pathol 1998; 25; 275-279
  • Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A. Seven cases of Wiedemann-Beckwith syndrom, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet 1998;79: 347-353
  • Merienne K, Jacquot S, Trivier e, Rossi A, Scott C, Schinzel A, Castellan C, Kress W, Hanauer A. Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. J Med Genet 1998; 335: 890-894
  • Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. A chromosomal deletion map of human malformations. Am J Hum Genet 1998; 63: 1153-1159
  • Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A. Germline mosaicims in Coffin-Lowry syndrome. Eur J Hum Genet 1998;6: 578-582