2003

  • Zankl A, Güngör T, Schinzel A Cranio-cerebello-cardiac (3C) syndrome: A follow-up study of the original patient Am J Med Genet 2003;118A:55-59
  • Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions Hum Mol Genet 2003;12:1-10
  • Schinzel A Holger W. Höhn zum 60. Geburtstag medgen 2003;15:87
  • Zankl A, Rampa A, Schinzel A Brachmann-de Lange Syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative BDLS gene mutation? Am J Med Genet 2003;120A:358-361
  • De Vries BBA, Winter R, Schinzel A, van Ravenswaaij-Arts C Telomeres: a diagnosis at the end of the chromosomes J Med Genet 2003;40:385-398
  • Piram A, Ortolan D, Peres LC, Monteiro Pina-Neto J, Riegel M, Schinzel A Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation Am J Med Genet 2003;118A:247-252
  • Riegel M, Baumer A, Schinzel A No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver-Russell syndrome cases Clin Genet 2003;64:252-254
  • Baumer A, Dres D, Basaran S, Isçi H, Dehgan T, Schinzel A Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy Cytogenet Genome Res 2003;101:5-7
  • Niedrist D, Schinzel A Chromosomenaberrationen und Epilepsie Epileptologie 2003;20:96-105
  • Horsthemke B, Lich C, Buiting K, Achmann R, Aulehla-Scholz C, Baumer A, Bürger J, Dworniczak B, Gläser D, Holinski-Feder E, Janssen B, Kleinle S, Kochhan L, Krasemann E, Kraus C, Kroisel P, Plendl H, Purmann S, Sander G, Skladny H, Spitzer E, Thamm-Mücke B, Varon-Mateeva R, Weinhäusel A, Weirich H Problems in detecting mosaic DNA methylation in Angelman syndrome Eur J Hum Genet 2003;11:913-915
  • de Azevedo Moreira LM, Magalhães Freitas L, Ferreira Gusmão FA, Riegel M New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl Birth Defects Res (A) 2003;67:985-988
  • Zankl A, Molinari L ABase - a tool for the rapid assessment of anthropometric measurements on handheld computers Am J Med Genet 2003;121A:146-150
  • Schinzel A, Riegel M, Baumer A Microdeletion Syndromes Nature Encyclopedia of the Human Genome (Ed. Cooper DN et. al., Nature Publishing Group, 2003);4:950-954
  • Schinzel A, Baumer A Uniparental Disomy Nature Encyclopedia of the Human Genome (Ed. Cooper DN et. al., Nature Publishing Group, 2003);5:695-699