1992

ZORA Publication List

Publications

• Özçelik, T., Leff, S., Robinson, W., Donlon, T., Lalande, M., Sanjines, E., Schinzel, A., & Francke, U. (1992). Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region Nature Genetics, 2, 265–269. https://doi.org/10.1038/ng1292-265
• Pangalos, C. G., Talbot Jr., C. C., Lewis, J. G., Adelsberger, P. A., Petersen, M. B., Serre, J.-L., Rethoré, M.-O., de Blois, M.-C., Parent, P., Schinzel, A. A., Binkert, F., Boue, J., Corbin, E., Croquette, M. F., Gilgenkrantz, S., de Grouchy, J., Bertheas, M. F., Prieur, M., Raoul, O., … Antonarakis, S. E. (1992). DNA polymorphism analysis in families with recurrence of free trisomy 21 American Journal of Human Genetics, 51, 1015–1027.
• Spiegel, R., Einschenk, I., Schinzel, A., Shelbourne, P., Johnson, K., Boltshauser, E., & Schmid, W. (1992). Molecular genetics diagnosis of Steinert’s myotonic dystrophy. Schweizerische Medizinische Wochenschrift, 122, 1553–1558.
• Murray, J. C., Bennett, S. R., Kwitek, A. E., Small, K. W., Schinzel, A., Alward, W. L. M., Weber, J. L., Bell, G. I., & Buetow, K. H. (1992). Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4 Nature Genetics, 2, 46–49. https://doi.org/10.1038/ng0992-46
• Lorda-Sanchez, I., Binkert, F., Mächler, M., Robinson, W. P., & Schinzel, A. A. (1992). Reduced recombination and paternal age effect in Klinefelter syndrome Human Genetics, 89, 524–530. https://doi.org/10.1007/BF00219178
• Grammatico, P., Modesti, A., Steindl, K., Scarpa, S., Heouaine, A., Picardo, M., & Del Porto, G. (1992). Lentigo maligna. Cytogenetic, ultrastructural, and phenotypic characterization of a primary cell culture Cancer Genetics and Cytogenetics, 60, 141–146. https://doi.org/10.1016/0165-4608(92)90006-t
• Biancalana, V., Briard, M. L., David, A., Gilgenkrantz, S., Kaplan, J., Mathieu, M., Piussan, C., Poncin, J., Schinzel, A., & Oudet, C. (1992). Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2 American Journal of Human Genetics, 50, 981–987.
• Ritzler, J. M., Sawhney, R., Geurts van Kessei, A. H. M., Grzeschik, K.-H., Schinzel, A., & Berchtold, M. W. (1992). The genes for the highly homologous Ca2+-binding proteins oncomodulin and parvalbumin are not linked in the human genome Genomics, 12, 567–572. https://doi.org/10.1016/0888-7543(92)90449-3
• Antonarakis, S. E., Petersen, M. B., McInnis, M. G., Adelsberger, P. A., Schinzel, A. A., Binkert, F., Pangalos, C., Raoul, O., Slaugenhaupt, S. A., Hafez, M., Cohen, M. M., Roulson, D., Hoar, D. I., Rudd, N. L., Warren, A. C., Metaxotou, C., Bartsocas, C., & Chakravarti, A. (1992). The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms American Journal of Human Genetics, 50, 544–550.
• Lorda-Sanchez, I., Binkert, F., Maechler, M., & Schinzel, A. (1992). Molecular study of 45,X conceptuses: Correlation with clinical findings American Journal of Medical Genetics, 42, 487–490. https://doi.org/10.1002/ajmg.1320420414
• Schinzel, A. A., Adelsberger, P. A., Binkert, F., Basaran, S., & Antonarakis, S. E. (1992). No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements American Journal of Human Genetics, 50, 288–293.
• Schmid, W. (1992). Noninvasive screening for chromosome abnormalities in young pregnant patients Archives of Gynecology and Obstetrics, 252 Supp, S36-43.
• Lorda-Sanchez, I., Binkert, F., Hinkel, K. G., Moser, H., Rosenkranz, W., Maechler, M., & Schinzel, A. (1992). Uniparental Origin of Sex Chromosome Polysomies Human Heredity, 42, 193–197. https://doi.org/10.1159/000154066
• Robinson, W. P., Bottani, A., Yagang, X., Balakrishnan, J., Binkert, F., Mächler, M., Prader, A., & Schinzel, A. (1992). Clinical, Molecular, and Cytogenetic Survey of Potential Prader-Willi Syndrome Patients In S. B. Cassidy (Ed.), Prader-Willi syndrome : band other chromosome 15q deletion disorders (No. 61; pp. 53–58). Springer. https://doi.org/10.1007/978-3-642-84283-2_7
• Schinzel, A., Robinson, W. P., Bottani, A., Yagang, X., & Prader, A. (1992). Prader-Willi or Angelman syndrome in familial 15q11→q13 deletion of maternal origin? Human Genetics, 88, 361–362. https://doi.org/10.1007/bf00197279
• Delozier-Blanchet, C. D., Francipane, L., Dahoun-Hadorn, S., Fässli, C., Beck, G., Gigon, U., Spiegel, R., Boltshauser, E., Melki, J., Schmid, W., Braga, S., Bucher, R., König, C., Achermann, J., Binkert, F., Addor, M.-C., Marguerat, P., Pescia, G., Laurini, R. N., … et al. (1992). Genetik / Pränatale Diagnostik In Schweizerischen Gesellschaft für Gynäkologie und Geburtshilfe (Ed.), Verhandlungen der Schweizerischen Gesellschaft für Gynäkologie und Geburtshilfe : Jahresversammlung Montreux, 18.–20. Juni 1992 (pp. 99–109). Springer. https://doi.org/10.1007/978-3-662-37812-0_13