2001

  • Martinez M-J, Binkert F, Schinzel A, Kotzot D. No Evidence of dup(7)(p11.2p13) in Silver-Russell Syndrome Am J Med Genet 2001 99; 335-337
  • Schinzel A, Niedrist D. Chromosome Imbalances Associated With Epilepsy Am J Med Genet (Semin. Med. Genet.) 2001 106; 119-124
  • Weymann S, Yonekawa Y, Khan N, Martin E, Heppner F L, Schinzel A, Kotzot D. Severe Arterial Occlusive Disorder and Brachysyndactyly in a Boy: A Further Case of Grange Syndrome? Am J Med Genet 2001 99; 190-195
  • Jung HH, Hergersberg M, Kneifel S, Alkadhi H, Schiess R, Weigell-Weber M, Daniels G, Kollias S, Hess K. McLeod Syndrome: A Novel Mutation, Predominant Psy-chiatric Manifestations, and Distinct Striatal Imaging Findings Ann Neurol 2001 49; 384-392
  • Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome Clin Genet 2001 59; 99-105
  • Dorn T, Riegel M, Schinzel A, Siegel AM, Krämer G. Epilepsy and trisomy 19q - different seizure patterns in a brother and a sister Epilepsy Res 2001 47; 119-126
  • Baumer A, Wiedemann U, Hergersberg M, Schinzel A. A novel MSP/DHPLC method für the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms Human Mutation 2001 17; 423-430
  • Riegel M, Morava E, Czako M, Kosztolanyi G, Schinzel A. Distal Deletion, del(2)(q33.3q33.3), in a Patient With Severe Growth Deficiency and Minor Anomalies Am J Med Genet 2001 102; 227-230
  • Courtens W, Vroman S, Vandenhove J, Wiedemann U, Schinzel A. Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7) Prenat Diagn 2001 21; 642-648
  • Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes Hum Genet 2001 109; 286-294
  • Röthlisberger B, Zerova TE, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A. Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child J Med Genet 2001 38; 885-888
  • Kotzot D, Röthlisberger B, Riegel M, Schinzel A. Maternal uniparental isodisomy 11q13-->qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13-->qter J Med Genet 2001 38; 876-881
  • Riegel M, Baumer A, Piram A, Ortolan D, Peres LC, Pina-Neto JM. De novo unbalan-ced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21 Genet Couns 2001 12; 69-75
  • Fokstuen S, Vrticka K, Riegel M, Da Silva V, Baumer A, Schinzel A. Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2 Eur J Pediatr 2001 160; 54-57
  • Wirth J, Back E, Hüttenhofer A, Northwang H-G, Lich C, Gross S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers H-H, Horsthemke B, Buiting K. A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15 Hum Mol Genet 2001 10; 201-210
  • Bruder CEG, Hirvelä C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Gareth Evans D, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Markku S, Hung G, Mathiesen T, Möller C, Pulst SM, Harder H, Heiberg A, Honda M, MIchihito N, Sahlén S, Blennow E, Albertson DG, Pinkel D, Dumanski JP. High resolution deletion analysis of constitutional DNA from neuro-fibromatosis type 2 (NF2) patients using microarray-CGH Hum Mol Genet 2001 10; 271-282
  • Mikelsaar RV, Varb K, Süvari A, Schinzel A. Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation J Med Genet 2001 38; e2