1994

ZORA Publication List

Publications

• Del Porto, G., Vingolo, E. M., Steindl, K., 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, 717–727. https://doi.org/10.1007/BF00184274
• Schinzel, A. (1994). Book review of “Chromosomes: A Synthesis.” Journal of Medical Genetics, 31, 900. https://doi.org/10.1136/jmg.31.11.900-b
• Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., & Winter, R. M. (1994). A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome Nature Genetics, 8, 269–274. https://doi.org/10.1038/ng1194-269
• Schinzel, A. A., Brecevic, L., Bernasconi, F., Binkert, F., Berthet, F., Wuilloud, A., & Robinson, W. P. (1994). Intrachromosomal triplication of 15q11-q13 Journal of Medical Genetics, 31, 798–803. https://doi.org/10.1136/jmg.31.10.798
• Vingolo, E. M., Steindl, K., Forte, R., Zompatori, L., Iannaccone, A., Sciarra, A., Del Porto, G., & Pannarale, M. R. (1994). Autosomal dominant simple microphthalmos Journal of Medical Genetics, 31, 721–725. https://doi.org/10.1136/jmg.31.9.721
• Chotai, K. A., Brueton, L. A., van Herwerden, L., Garrett, C., Hinkel, G. K., Schinzel, A., Mueller, R. F., Speleman, F., & Winter, R. M. (1994). Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies American Journal of Medical Genetics, 51, 270–276. https://doi.org/10.1002/ajmg.1320510320
• Bottani, A., Robinson, W. P., Delozier-Blanchet, C. D., Engel, E., Morris, M. A., Schmitt, B., Thun-Hohenstein, L., & Schinzel, A. (1994). Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype? American Journal of Medical Genetics, 51, 35–40. https://doi.org/10.1002/ajmg.1320510109
• Robinson, W. P., Binkert, F., Schinzel, A. A., Basaran, S., & Mikelsaar, R. (1994). Multiple origins of X chromosome tetrasomy Journal of Medical Genetics, 31, 424–425. https://doi.org/10.1136/jmg.31.5.424
• Bonnet, D., Pelet, A., Legeai-Mallet, L., Sidi, D., Mathieu, M., Parent, P., Plauchu, H., Serville, F., Schinzel, A., Weissenbach, J., Kachaner, J., Munnich, A., & Lyonnet, S. (1994). A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12 Nature Genetics, 6, 405–408. https://doi.org/10.1038/ng0494-405
• Pangalos, C., Avramopoulos, D., Blouin, J.-L., Raoul, O., deBlois, M.-C., Prieur, M., Schinzel, A. A., Gika, M., Abazis, D., & Antonarakis, S. E. (1994). Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis American Journal of Human Genetics, 54, 473–481.
• Trüeb, R., Burg, G., Bottani, A., & Schinzel, A. (1994). Ectodermal dysplasia with corkscrew hairs: Observation of probable autosomal dominant tricho-odonto-onychodysplasia with syndactyly Journal of the American Academy of Dermatology, 30, 289–290. https://doi.org/10.1016/s0190-9622(08)81934-2
• Robinson, W. P., Bernasconi, F., Basaran, S., Yüksel-Apak, M., Neri, G., Serville, F., Balicek, P., Haluza, R., Farah, L. M. S., Luleci, G., & Schinzel, A. A. (1994). A somatic origin of homologous Robertsonian translocations and isochromosomes American Journal of Human Genetics, 54, 290–302.
• Brecevic, L., Binkert, F., Boltshauser, E., & Schinzel, A. (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, 147–154. https://psycnet.apa.org/record/1995-22026-001
• Schinzel, A. A., Robinson, W. P., Binkert, F., & Fanconi, A. (1994). An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features Clinical Dysmorphology, 3, 63–69. https://doi.org/10.1097/00019605-199401000-00009
• Schinzel, A. A., Basaran, S., Bernasconi, F., Karaman, B., Yüksel-Apak, M., & Robinson, W. P. (1994). Maternal uniparental disomy 22 has no impact on the phenotype American Journal of Human Genetics, 54, 21–24.
• Le Merrer, M., Legeai-Mallet, L., Jeannin, P. M., Horsthemke, B., Schinzel, A., Plauchu, H., Toutain, A., Achard, F., Munnich, A., & Maroteaux, P. (1994). A gene for hereditary multiple exostoses maps to chromosome 19p Human Molecular Genetics, 3, 717–722. https://doi.org/10.1093/hmg/3.5.717
• Phipps, M. E., Latif, F., Prowse, A., Payne, S. J., Dietz-Band, J., Leversha, M., Affara, N. A., Moore, A. T., Tolmie, J., Schinzel, A., Lerman, M. I., Ferguson-Smith, M. A., & Maher, E. R. (1994). Molecular genetic analysis of the 3p — syndrome Human Molecular Genetics, 3, 903–908. https://doi.org/10.1093/hmg/3.6.903