1996

ZORA Publication List

Publications

• Dutly, F., & Schinzel, A. (1996). Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome Human Molecular Genetics, 5, 1893–1898. https://doi.org/10.1093/hmg/5.12.1893
• Bernasconi, F., Karagüzel, A., Celep, F., Keser, I., Lüleci, G., Dutly, F., & Schinzel, A. A. (1996). Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q) American Journal of Human Genetics, 59, 1114–1118. https://europepmc.org/article/PMC/1914849
• Das-Kundu, S., Klünemann, H. H., Mieth, D., Spycher, M., Stallmach, T., & Schinzel, A. (1996). Case of the month: A newborn with tight skin and joint contractures European Journal of Pediatrics, 155, 987–989. https://doi.org/10.1007/bf02282893
• Mitchell, J., Schinzel, A., Langlois, S., Gillessen-Kaesbach, G., Schuffenhauer, S., Michaelis, R., Abeliovich, D., Lerer, I., Christian, S., Guitart, M., McFadden, D. E., & Robinson, W. P. (1996). Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences American Journal of Medical Genetics, 65, 133–136. https://doi.org/10.1002/(sici)1096-8628(19961016)65:2<133::aid-ajmg10>3.0.co;2-r
• Robinson, W. P., Langlois, S., Schuffenhauer, S., Horsthemke, B., Michaelis, R. C., Christian, S., Ledbetter, D. H., & Schinzel, A. (1996). Cytogenetic and age-dependent risk factors associated with uniparental disomy 15 Prenatal Diagnosis, 16, 837–844. https://doi.org/10.1002/(sici)1097-0223(199609)16:9<837::aid-pd956>3.0.co;2-7
• Barber, J. C. K. (1996). Human cytogenetics database (3.5 inch/90 mm diskette) Trends in Genetics : Tig, 12, 279. https://doi.org/10.1016/0168-9525(96)81456-9
• Weigell-Weber, M., Kryenbühl, C., Büchi, E. R., & Spiegel, R. (1996). Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina Molecular Vision, 2, 6. http://www.molvis.org/molvis/v2/a6/
• Robinson, W. P., Waslynka, J., Bernasconi, F., Wang, M., Clark, S., Kotzot, D., & Schinzel, A. (1996). Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion Genomics, 34, 17–23. https://doi.org/10.1006/geno.1996.0237
• Schinzel, A. (1996). Uniparental Disomy and Genomic Imprinting in Humans Acta Geneticae Medicae et Gemellologiae, Twin Research, 45, 145–152. https://doi.org/10.1017/s0001566000001239
• Evans, C. D., Searle, A. G., Schinzel, A. A., & Winter, R. M. (1996). The dysmorphic human-mouse homology database (DHMHD): an interactive World-Wide Web resource for gene mapping Journal of Medical Genetics, 33, 289–294. https://doi.org/10.1136/jmg.33.4.289
• Weigell-Weber, M., Schmid, W., & Spiegel, R. (1996). Psychiatric symptoms and CAG expansion in Huntington’s disease. American Journal of Medical Genetics, 67, 53–57. https://doi.org/10.1002/(SICI)1096-8628(19960216)67:1<53::AID-AJMG9>3.0.CO;2-T
• Robinson, W. P., Bernasconi, F., Dutly, F., Lefort, G., Romain, D. R., Binkert, F., & Schinzel, A. A. (1996). Molecular studies of translocations and trisomy involving chromosome 13 American Journal of Medical Genetics, 61, 158–163. https://doi.org/10.1002/(SICI)1096-8628(19960111)61:2<158::AID-AJMG11>3.0.CO;2-T
• Kotzot, D., Bundscherer, G., Bernasconi, F., Brecevic, L., Lurie, I. W., Basaran, S., Baccicchetti, C., Höller, A., Castellan, C., Braun-Quentin, C., Pfeiffer, R. A., & Schinzel, A. (1996). Isochromosome 18p Results from Maternal Meiosis II Nondisjunction European Journal of Human Genetics, 4, 168–174. https://doi.org/10.1159/000472191
• Spiegel, R., La Spada, A. R., Kress, W., Fischbeck, K. H., & Schmid, W. (1996). Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy Human Mutation, 8, 32–37. https://doi.org/10.1002/(SICI)1098-1004(1996)8:1<32::AID-HUMU4>3.0.CO;2-R