2000

  • Riegel M, Baumer A, Wisser J, Acherman J, Schinzel A. Prenatal diagnosis of mosaicism for a del(22)(q13). Prenat Diagn 2000; 76-79
  • Röthlisberger B, Chranazowska K, Balmer D, Riegel M, Schinzel A. A supernumerary marker chromosome originating from two different regions of chromosome 18. J Med Genet 2000; 121-124
  • Weigell-Weber M, Fokstuen S, Török B, Niemmeyer G, Schinzel A, Hergersberg M. Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p - hot spot for mutations in autosomal dominant cone rod dystrophy? Arch Ophthalmol 2000; 118 : 300
  • Hergersberg M, Glatzel M, Capone A, Achermann S, Hagmann A, Fischer J, Ersch J, Aguzzi A, Boltshauser E. Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muskular weakness. Eur J Pediatr Neur 2000; 35-38
  • Hergersberg M, Weigell-Weber M. Erbliche Schwerhörigkeit: Neue Möglichkeiten der Diagnostik. Schweiz Med Wochenschr 2000; 130 : 485-489
  • Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BCJ, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Maternal uniparental disomy 7 - review and further delineation of the phenotype. Eur J Pediatr 2000; 159 : 247-256
  • Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Berker Karaüzüm S, Krajewska-Walasek M, Lüleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A. Parental origin and mechanisms of formation of cytogenetically recognizable de novo direct and inverted duplications. J Med Genet 2000; 37 : 281-286
  • Faber J, Winterpacht A, Zabel B, Gnoinski W, Schinzel A, Steinmann B, Superti-Furga A. Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling. J Med Genet 2000; 37 : 318-320
  • Malich S, Largo RH, Schinzel A, Molinari L. Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: Variable expression of a major gene defect or parent-child resemblance? Am J Med Genet 2000; 91 : 298-304
  • Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SA. A novel locus (DFNA24) for prelingual non-progressive autosomal dominant non-syndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. Am J Hum Genet 2000; 66 : 1437-1442
  • Stassen HH, Bridler R, Hägele S, Hergersberg M, Mehmann B, Schinzel A, Weisbrod M, Scharfetter C. Schizophrenia and smoking: evidence for a common neurobiological basis? Am J Med Genet 2000; 96 : 173-177
  • Robinson WP, Christian SL, Kuchinka BD, Penaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH. Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15. Clin Genet 2000; 57 : 349-358
  • Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM. A novel locus (DFNA23) for prelingual autosomal dominant hearing loss maps to 14q21-q22 in a Swiss German kindred. Am J Hum Genet 2000; 66 : 1984-1988
  • Baumer A, Belli S, Trüeb RM, Schinzel A. An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. Eur J Hum Genet 2000; 8 : 443-448
  • Fokstuen S, Schinzel A. Unilateral lobar pulmonary agenesis in sibs. J Med Genet 2000; 37 : 557-559
  • Blau N, Scherer-Oppliger T, Baumer A, Riegel M, Matasovic A, Schinzel A, Jaeken J, Thöny B. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. Hum Mutat 2000; 16 : 54-60
  • Weigell-Weber M, Schinzel A, Hergersberg M. Angeborene Innenohrschwer-hörigkeit durch Mutationen im Connexin-26-Gen. Schweiz Med Wochenschr 2000; 130 : 1072-1077
  • Kotzot D, Schinzel A. Paternal meiotic origin in der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome. Eur J Hum Genet 2000; 8 : 709-712
  • Moreira MLA, Riegel M. Two sibs with duplication of 4q31-->qter due to 3:1 meiotic disjunction and mild phenotype. Genet Couns 2000; 11 : 249-259
  • Röthlisberger B, Schinzel A, Kotzot D. A new molecular approach to investigate origin and formation of structural chromosome aberrations. Chromosome Research 2000; 8 : 451-453
  • Achermann S, Addor MC, Schinzel A. Der Anteil pränatal erfasster Fälle von ausgewählten Fehlbildungen in der EUROCAT Studie. Schweiz Med Wochenschr 2000; 130 : 1326-1331
  • Kotzot D, Lurie IW, Méhes K, Werder E, Schinzel A.No evidence of uniparental disomy 2,6,14,16,20, and 22 as a major cause of intrauterine growth retardation. Clin Genet 2000; 58 : 177-180
  • Baumer A, Balmer D, Binkert F, Schinzel A.The parental origin and mechanism of formation of triploidy: a study of 25 cases Eur J Hum Genet 2000;8:911-917
  • Schinzel A.Discrepancies in cytogenetic results between different tissues in two fetuses with Wolf-Hirschhorn syndrome Cytogenet Cell Genet 2000;91:231-233
  • Konrad D, Sossai R, Winklehner HL, Binkert F, Artan S, Schärli AF.Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis Pediatr Surg Int 2000;16:226-228
  • Ginsburg C, Fokstuen S, Schinzel A.The contribution of uniparental disomy to congenital developmental defects in children born to mothers at advanced childbearing age Am J Med Genet 2000;95 :454-460
  • Brecevic L, Basaran S, Dutly F, Röthlisberger B, Schinzel A.Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year-old girl J Med Genet 2000;37 :964-967
  • Hergersberg M.Glossar der molekularen Humangenetik Retina Suisse, Ausstellungsstrasse 36, CH-8005 Zürich, Oktober 2000
  • Fokstuen S, Balakrishnan J, Kotzot D, Hergersberg M, Hobi C. Homozygotosity of the cystic fibrosis (CF) gene allele IVS8 in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD). Mol Hum Reprod 2000; 6 : 669-670