1993

ZORA Publication List

Publications

• Spiegel, R., Weigell-Weber, M., Hergersberg, M., & Schmid, W. (1993). Direct genetic diagnosis in Huntington’s chorea. Schweizerische Medizinische Wochenschrift, 123, 2271–2277.
• Robinson, W. P., Bernasconi, F., Mutirangura, A., Ledbetter, D. H., Langlois, S., Malcolm, S., Morris, M. A., & Schinzel, A. A. (1993). Nondisjunction of chromosome 15: origin and recombination American Journal of Human Genetics, 53, 740–751.
• Schinzel, A. A., Robinson, W. P., Binkert, F., Torresani, T., & Werder, E. A. (1993). Exclusively paternal X chromosomes in a girl with short stature Human Genetics, 92, 175–178. https://doi.org/10.1007/BF00219687
• Robinson, W. P., Wagstaff, J., Bernasconi, F., Baccichetti, C., Artifoni, L., Franzoni, E., Suslak, L., Shih, L. Y., Aviv, H., & Schinzel, A. 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, 756–760. https://doi.org/10.1136/jmg.30.9.756
• Ya-gang, X., Robinson, W. P., Spiegel, R., Binkert, F., Ruefenacht, U., & Schinzel, A. A. (1993). Parental origin of the supernumerary chromosome in trisomy 18 Clinical Genetics, 44, 57–61. https://doi.org/10.1111/j.1399-0004.1993.tb03847.x
• Grammatico, P., Scarpa, S., Picardo, M., Steindl, K., Nazzaro-Porro, M., & Del Porto, G. (1993). Karyotype modifications in human malignant melanoma cell cultures after treatment with azelaic acid Mutation Research, 300, 119–123. https://doi.org/10.1016/0165-1218(93)90129-2
• Bunge, S., Wedemann, H., David, D., Terwilliger, D. J., van den Born, L. I., Aulehla-Scholz, C., Samanns, C., Horn, M., Ott, J., Schwinger, E., Schinzel, A., Denton, M. J., & Gal, A. (1993). Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa Genomics, 17, 230–233. https://doi.org/10.1006/geno.1993.1309
• McGinniss, M. J., Rosenberg, C., Stetten, G., Schinzel, A. A., Binkert, F., Petersen, M. B., Kearns, W. G., Kazazian, H. H., Pearson, P. L., & Antonarakis, S. 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, 647–651. https://doi.org/10.1002/ajmg.1320460609
• Schinzel, A. (1993). Genomic imprinting: Consequences of uniparental disomy for human disease American Journal of Medical Genetics, 46, 683–684. https://doi.org/10.1002/ajmg.1320460616
• Schinzel, A. (1993). Trisomy 8 and trisomy 9 are distinctly different clinical entities American Journal of Medical Genetics, 46, 603–604. https://doi.org/10.1002/ajmg.1320460530
• Savoldelli, G., Binkert, F., Achermann, J., & Schmid, W. (1993). Ultrasound screening for chromosomal anomalies in the first trimester of pregnancy Prenatal Diagnosis, 13, 513–518. https://doi.org/10.1002/pd.1970130613
• Robinson, W. P., Spiegel, R., & Schinzel, A. A. (1993). Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination Human Genetics, 91, 181–184. https://doi.org/10.1007/BF00222722
• Gurrieri, F., Trask, B. J., van den Engh, G., Krauss, C. M., Schinzel, A., Pettenati, M. J., Schindler, D., Dietz-Band, J., Vergnaud, G., Scherer, S. W., Tsui, L.-C., & Muenke, M. (1993). Physical mapping of the holoprosencephaly critical region on chromosome 7q36 Nature Genetics, 3, 247–251. https://doi.org/10.1038/ng0393-247
• Antonarakis, S. E., Avramopoulos, D., Blouin, J.-L., Talbot, C. C., & Schinzel, A. 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, 146–150. https://doi.org/10.1038/ng0293-146
• Stuhrmann, M., Spangenberg, A., Schinzel, A., & Schmidtke, J. (1993). Linkage Analysis in Malattia Leventinese, an Autosomal Dominant form of Macular Degeneration In J. G. Hollyfield, R. E. Anderson, & M. M. LaVail (Eds.), Retinal Degeneration (pp. 49–52). Plenum Press. https://doi.org/10.1007/978-1-4615-2974-3_5
• Schinzel, A. (1993). Karyotype-phenotype correlations in autosomal chromosomal aberrations Progress in Clinical and Biological Research, 384, 19–31.
• Glenn, C. C., Nicholls, R. D., Robinson, W. P., Saitoh, S., Nllkawa, N., Schlnzel, A., Horsthemke, B., & Driscoll, D. J. (1993). Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients Human Molecular Genetics, 2, 1377–1382. https://doi.org/10.1093/hmg/2.9.1377
• Bunge, S., Steglich, C., Zuther, C., Beck, M., Morris, C. P., Schwinger, E., Schinzel, A., Hopwood, J. J., & Gal, A. (1993). Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome) Human Molecular Genetics, 2, 1871–1875. https://doi.org/10.1093/hmg/2.11.1871
• Robinson, W. P., Binkert, F., Giné, R., Vazquez, C., Müller, W., Rosenkranz, W., & Schinzel, A. (1993). Clinical and Molecular Analysis of Five(Inv) Dup(15) Patients European Journal of Human Genetics, 1, 37–50. https://doi.org/10.1159/000472386
• Zhong, J., Spiegel, R., Boltshauser, E., & Schmid, W. (1993). Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis Human Molecular Genetics, 2, 1491–1492. https://doi.org/10.1093/hmg/2.9.1491

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