1994

ZORA Publication List

Publications

• Del Porto, G; Vingolo, E M; Steindl, Katharina; Forte, R; Iannaccone, A; Rispoli, E; Pannarale, M R (1994). Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis Graefe's Archive for Clinical and Experimental Ophthalmology, 232(12):717-727.
• Schinzel, Albert (1994). Book review of "Chromosomes: A Synthesis" Journal of Medical Genetics, 31(11):900.
• Muenke, Maximilian; Schell, Ute; Hehr, Andreas; Robin, Nathaniel H; Losken, H Wolfgang; Schinzel, Albert; Pulleyn, Louise J; Rutland, Paul; Reardon, William; Malcolm, Sue; Winter, Robin M (1994). A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome Nature Genetics, 8(3):269-274.
• Schinzel, Albert A; Brecevic, Lukrecija; Bernasconi, Fabiana; Binkert, Franz; Berthet, F; Wuilloud, A; Robinson, Wendy P (1994). Intrachromosomal triplication of 15q11-q13 Journal of Medical Genetics, 31(10):798-803.
• Vingolo, E M; Steindl, Katharina; Forte, R; Zompatori, L; Iannaccone, A; Sciarra, A; Del Porto, G; Pannarale, M R (1994). Autosomal dominant simple microphthalmos Journal of Medical Genetics, 31(9):721-725.
• Chotai, Kokila A; Brueton, Louise A; van Herwerden, Lyn; Garrett, Christine; Hinkel, Georg K; Schinzel, Albert; Mueller, Robert F; Speleman, Frank; Winter, Robin M (1994). Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies American Journal of Medical Genetics, 51(3):270-276.
• Bottani, A; Robinson, W P; Delozier-Blanchet, C D; Engel, E; Morris, M A; Schmitt, B; Thun-Hohenstein, Leonhard; Schinzel, Albert (1994). Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?
• Robinson, Wendy P; Binkert, Franz; Schinzel, Albert A; Basaran, Seher; Mikelsaar, R (1994). Multiple origins of X chromosome tetrasomy Journal of Medical Genetics, 31(5):424-425.
• Bonnet, Damien; Pelet, Anna; Legeai-Mallet, Laurence; Sidi, Daniel; Mathieu, Michèle; Parent, Philippe; Plauchu, Henri; Serville, Françoise; Schinzel, Albert; Weissenbach, Jean; Kachaner, Jean; Munnich, Arnold; Lyonnet, Stanislas (1994). A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12 Nature Genetics, 6(4):405-408.
• Pangalos, Constantinos; Avramopoulos, Dimitros; Blouin, Jean-Louis; Raoul, Odile; deBlois, Marie-Christine; Prieur, Marguerite; Schinzel, Albert A; Gika, Maria; Abazis, Danae; Antonarakis, Stylianos E (1994). Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis American Journal of Human Genetics, 54(3):473-481.
• Robinson, Wendy P; Bernasconi, Fabiana; Basaran, S; Yüksel-Apak, M; Neri, Giovanni; Serville, F; Balicek, P; Haluza, R; Farah, L M S; Luleci, G; Schinzel, Albert A (1994). A somatic origin of homologous Robertsonian translocations and isochromosomes American Journal of Human Genetics, 54(2):290-302.
• Brecevic, Lukrecija; Binkert, Franz; Boltshauser, Eugen; Schinzel, Albert (1994). Fluorescent in situ hybridisation detection of a balanced t(9; 17) translocation in the father of a child with lissencephaly and additional abnormalities. Developmental brain dysfunction, 7(2-3):147-154.
• Schinzel, Albert A; Robinson, Wendy P; Binkert, Franz; Fanconi, A (1994). An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features Clinical Dysmorphology, 3(1):63-69.
• Schinzel, Albert A; Basaran, Seher; Bernasconi, Fabiana; Karaman, B; Yüksel-Apak, Memnune; Robinson, Wendy P (1994). Maternal uniparental disomy 22 has no impact on the phenotype American Journal of Human Genetics, 54(1):21-24.
• Le Merrer, Marline; Legeai-Mallet, Laurence; Jeannin, Patricia Margaritte; Horsthemke, Bernhard; Schinzel, Albert; Plauchu, Henri; Toutain, Annick; Achard, Frédéric; Munnich, Arnold; Maroteaux, Pierre (1994). A gene for hereditary multiple exostoses maps to chromosome 19p Human Molecular Genetics, 3(5):717-722.
• Phipps, Maude E; Latif, Farida; Prowse, Amanda; Payne, Stewart J; Dietz-Band, Jeanne; Leversha, Margaret; Affara, Nabeel A; Moore, Anthony T; Tolmie, John; Schinzel, Albert; Lerman, Michael I; Ferguson-Smith, Malcolm A; Maher, Eamonn R (1994). Molecular genetic analysis of the 3p — syndrome Human Molecular Genetics, 3(6):903-908.