1993

ZORA Publication List

Publications

• Spiegel, Roland; Weigell-Weber, Maike; Hergersberg, Martin; Schmid, Werner (1993). Direct genetic diagnosis in Huntington's chorea. Schweizerische Medizinische Wochenschrift, 123(48):2271-2277.
• Robinson, Wendy P; Wagstaff, J; Bernasconi, Fabiana; Baccichetti, Carlo; Artifoni, L; Franzoni, E; Suslak, L; Shih, L Y; Aviv, H; Schinzel, Albert A (1993). Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. Journal of Medical Genetics, 30(9):756-760.
• Robinson, Wendy P; Bernasconi, Fabiana; Mutirangura, Apiwat; Ledbetter, David H; Langlois, Sylvie; Malcolm, Sue; Morris, Michael A; Schinzel, Albert A (1993). Nondisjunction of chromosome 15: origin and recombination. American Journal of Human Genetics, 53(3):740-51.
• Schinzel, Albert A; Robinson, Wendy P; Binkert, Franz; Torresani, Toni; Werder, Edmond A (1993). Exclusively paternal X chromosomes in a girl with short stature. Human Genetics, 92(2):175-178.
• Ya-gang, Xie; Robinson, Wendy P; Spiegel, Roland; Binkert, Franz; Ruefenacht, Urszula; Schinzel, Albert A (1993). Parental origin of the supernumerary chromosome in trisomy 18. Clinical Genetics, 44(2):57-61.
• Bunge, Susanna; Wedemann, H; David, D; Terwilliger, D J; van den Born, L Ingeborgh; Aulehla-Scholz, Christa; Samanns, C; Horn, M; Ott, J; Schwinger, E; Schinzel, Albert; Denton, M J; Gal, A (1993). Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa. Genomics, 17(1):230-233.
• McGinniss, Matthew J; Rosenberg, Carla; Stetten, Gail; Schinzel, Albert A; Binkert, Franz; Petersen, Michael B; Kearns, William G; Kazazian, Haig H; Pearson, Peter L; Antonarakis, Stylianos E (1993). Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. American Journal of Medical Genetics, 46(6):647-651.
• Schinzel, Albert (1993). Genomic imprinting: Consequences of uniparental disomy for human disease. American Journal of Medical Genetics, 46(6):683-684.
• Grammatico, P; Scarpa, S; Picardo, M; Steindl, Katharina; Nazzaro-Porro, M; Del Porto, G (1993). Karyotype modifications in human malignant melanoma cell cultures after treatment with azelaic acid. Mutation research, 300(2):119-123.
• Schinzel, Albert (1993). Trisomy 8 and trisomy 9 are distinctly different clinical entities. American Journal of Medical Genetics, 46(5):603-604.
• Savoldelli, Guido; Binkert, Franz; Achermann, Josef; Schmid, Werner (1993). Ultrasound screening for chromosomal anomalies in the first trimester of pregnancy. Prenatal Diagnosis, 13(6):513-518.
• Gurrieri, Fiorella; Trask, Barbara J; van den Engh, Ger; Krauss, Celeste M; Schinzel, Albert; Pettenati, Mark J; Schindler, Detlef; Dietz-Band, Jeanne; Vergnaud, Gilles; Scherer, Stephen W; Tsui, Lap-Chee; Muenke, Maximilian (1993). Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nature Genetics, 3(3):247-251.
• Robinson, Wendy P; Spiegel, Roland; Schinzel, Albert A (1993). Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination. Human Genetics, 91(2):181-184.
• Antonarakis, Stylianos E; Avramopoulos, Dimitros; Blouin, Jean-Louis; Talbot, C Conover; Schinzel, Albert A (1993). Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nature Genetics, 3(2):146-150.
• Bunge, Susanna; Steglich, Cordula; Zuther, Cornelia; Beck, Michael; Morris, C Phillip; Schwinger, Eberhard; Schinzel, Albert; Hopwood, John J; Gal, Andreas (1993). Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Human Molecular Genetics, 2(11):1871-1875.
• Robinson, Wendy P; Binkert, Franz; Giné, Ramon; Vazquez, Carlos; Müller, Wilfried; Rosenkranz, Walter; Schinzel, Albert (1993). Clinical and Molecular Analysis of Five(Inv) Dup(15) Patients. European Journal of Human Genetics, 1(1):37-50.
• Zhong, Jun; Spiegel, Roland; Boltshauser, Eugen; Schmid, Werner (1993). Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis. Human Molecular Genetics, 2(9):1491-1492.
• Glenn, Christopher C; Nicholls, Robert D; Robinson, Wendy P; Saitoh, Shinjl; Nllkawa, Norlo; Schlnzel, Albert; Horsthemke, Bernhard; Driscoll, Daniel J (1993). Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients. Human Molecular Genetics, 2(9):1377-1382.
• Bulting, Karin; Dlttrich, Bärbel; Groß, Stephanle; Greger, Valerle; Lalande, Marc; Robinson, Wendy; Mutirangura, Apiwat; Ledbetter, David; Horsthemke, Bernhard (1993). Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene. Human Molecular Genetics, 2(12):1991-1994.
• Stuhrmann, Manfred; Spangenberg, Astrid; Schinzel, Albert; Schmidtke, Jörg (1993). Linkage Analysis in Malattia Leventinese, an Autosomal Dominant form of Macular Degeneration. In: Hollyfield, Joe G; Anderson, Robert E; LaVail, Matthew M. Retinal Degeneration. New York: Plenum Press, 49-52.

Pagination