2004

  • Khan N, Schinzel A, Shuknecht B, Baumann F, Østergaard JR, Yonekawa Y Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? Eur Neurol 2004;51:72-77
  • Zankl A, Scheffer H, Schinzel A Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: Odontotrichomelic syndrome or new entity? Am J Med Genet 2004;127A:74-80
  • Nazarenko S, Sazhenova E, Baumer A, Schinzel A Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome Eur J Hum Genet 2004;12:411-414
  • Zankl A, Brooks D, Boltshauser E, Largo R, Schinzel A Natural history of twin disruption sequence Am J Med Genet 2004;127A:133-138
  • Baumer A, Riegel M, Schinzel A Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion J Med Genet 2004;41:413-420
  • Hübner CA, Utermann B, Tinschert S, Krüger G, Ressler B, Steglich C, Schinzel A, Gal A Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing Hum Mutat 2004; 23:526-531
  • Melo DG, Huber J, Giuliani LR, Mazzucatto LF, Riegel M, Pina-Neto JM De novo complex chromosome rearrangement: A study of two patients Genet Couns 2004:15:303-310
  • Czakó M, Riegel M, Morava E, Bajnóczky K, Kosztolányi G Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q Am J Med Genet 2004; 131A:310-312
  • Zerova-Ljubimova TE, Riegel M, Smulskaja NA, Eveenkova EG, Gorovenko NG, Schinzel A Molecular-cytogenetic identification of partial duplication of short arm of chromosome 8 Cytology and Genetics (Ukraine) 2004;4:55-61
  • Zankl A Computer-aided anthropometry in the evaluation of dysmorphic children Pediatrics 2004;114:333-336