1992

ZORA Publikationsliste

Publikationen

• Özçelik, Tayfun; Leff, Stuart; Robinson, Wendy; Donlon, Tim; Lalande, Marc; Sanjines, Elvira; Schinzel, Albert; Francke, Uta (1992). Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region Nature Genetics, 2(4):265-269.
• Pangalos, Constantinos G; Talbot Jr., Conover C; Lewis, John G; Adelsberger, Patricia A; Petersen, Michael B; Serre, Jean-Louis; Rethoré, Marie-Odile; de Blois, Marie-Christine; Parent, Philipe; Schinzel, Albert A; Binkert, Franz; Boue, Joelle; Corbin, Elisabeth; Croquette, M F; Gilgenkrantz, Simone; de Grouchy, Jean; Bertheas, M F; Prieur, Marguerite; Raoul, Odile; Serville, Framcoise; Siffroi, J P; Thepot, Francois; Lejeune, Jerome; Antonarakis, Stylianos E (1992). DNA polymorphism analysis in families with recurrence of free trisomy 21 American Journal of Human Genetics, 51(5):1015-1027.
• Spiegel, Roland; Einschenk, I; Schinzel, Albert; Shelbourne, P; Johnson, K; Boltshauser, Eugen; Schmid, Werner (1992). Molecular genetics diagnosis of Steinert's myotonic dystrophy Schweizerische Medizinische Wochenschrift, 122(42):1553-1558.
• Murray, Jeffrey C; Bennett, Steven R; Kwitek, Anne E; Small, Kent W; Schinzel, Albert; Alward, Wallace L M; Weber, James L; Bell, Graeme I; Buetow, Kenneth H (1992). Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4 Nature Genetics, 2(1):46-49.
• Lorda-Sanchez, Isabel; Binkert, Franz; Mächler, Marco; Robinson, Wendy P; Schinzel, Albert A (1992). Reduced recombination and paternal age effect in Klinefelter syndrome Human Genetics, 89(5):524-530.
• Grammatico, P; Modesti, A; Steindl, Katharina; 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(2):141-146.
• Biancalana, V; Briard, M L; David, A; Gilgenkrantz, Simone; Kaplan, J; Mathieu, Michèle; Piussan, C; Poncin, J; Schinzel, Albert; 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(5):981-987.
• Antonarakis, Stylianos E; Petersen, Michael B; McInnis, Melvin G; Adelsberger, Patricia A; Schinzel, Albert A; Binkert, Franz; Pangalos, Constantine; Raoul, Odile; Slaugenhaupt, Susan A; Hafez, Mohamed; Cohen, Maimon M; Roulson, Diane; Hoar, David I; Rudd, Noreen L; Warren, Andrew C; Metaxotou, Caterina; Bartsocas, Christos; Chakravarti, Aravinda (1992). The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms American Journal of Human Genetics, 50(3):544-550.
• Ritzler, J M; Sawhney, R; Geurts van Kessei, A H M; Grzeschik, K -H; Schinzel, Albert; 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(3):567-572.
• Lorda-Sanchez, Isabel; Binkert, Franz; Maechler, Marco; Schinzel, Albert (1992). Molecular study of 45,X conceptuses: Correlation with clinical findings American Journal of Medical Genetics, 42(4):487-490.
• Schinzel, Albert A; Adelsberger, Patricia A; Binkert, Franz; 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(2):288-293.
• Schinzel, Albert; Robinson, Wendy P; Bottani, Armand; Yagang, Xie; Prader, Andrea (1992). Prader-Willi or Angelman syndrome in familial 15q11→q13 deletion of maternal origin? Human Genetics, 88(3):361-362.
• Lorda-Sanchez, Isabel; Binkert, Franz; Hinkel, Klaus Georg; Moser, Hans; Rosenkranz, Walter; Maechler, Marco; Schinzel, Albert (1992). Uniparental Origin of Sex Chromosome Polysomies Human Heredity, 42(3):193-197.
• Robinson, W P; Bottani, Armand; Yagang, Xie; Balakrishnan, J; Binkert, Franz; Mächler, Marco; Prader, Andrea; Schinzel, Albert (1992). Clinical, Molecular, and Cytogenetic Survey of Potential Prader-Willi Syndrome Patients In: Cassidy, Suzanne B . Prader-Willi syndrome : band other chromosome 15q deletion disorders (1st ed.). Berlin, Heidelberg: Springer, 53-58.
• Schmid, Werner (1992). Noninvasive screening for chromosome abnormalities in young pregnant patients Archives of Gynecology and Obstetrics, 252 Supp:S36-43.
• Delozier-Blanchet, C D; Francipane, L; Dahoun-Hadorn, S; Fässli, C; Beck, G; Gigon, U; Spiegel, Roland; Boltshauser, Eugen; Melki, J; Schmid, Werner; Braga, S; Bucher, R; König, Ch; Achermann, J; Binkert, Franz; Addor, M-C; Marguerat, Ph; Pescia, G; Laurini, R N; Maillard, C; Hohlfeld, P; Pexieder, T; Weihs, D; Extermann, Ph; Paccaud, Fred; Bischoff, P; Dao, L; Dahoun, S; Salvoldelli, G; Heron, O; et al (1992). Genetik / Pränatale Diagnostik In: Schweizerischen Gesellschaft für Gynäkologie und Geburtshilfe . Verhandlungen der Schweizerischen Gesellschaft für Gynäkologie und Geburtshilfe : Jahresversammlung Montreux, 18.–20. Juni 1992. Berlin, Heidelberg: Springer, 99-109.