1995

ZORA Publication List

Publications

• Schinzel, A., Lorda-Sanchez, I., Binkert, F., Carter, N. P., Bebb, C. E., Ferguson-Smith, M. A., Eiholzer, U., Zachmann, M., & Robinson, W. P. (1995). Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting Journal of Medical Genetics, 32, 957–961. https://doi.org/10.1136/jmg.32.12.957
• Wisser, J., Hebisch, G., Froster, U., Zerres, K., Stallmach, T., Leumann, E., Schinzel, A., & Huch, A. (1995). Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (arpkd) during the early second trimester Prenatal Diagnosis, 15, 868–871. https://doi.org/10.1002/pd.1970150914
• Zimmermann, R., Schmid, W., Binkert, F., Achermann, J., Huch, R., & Huch, A. (1995). Trisomy-21 screening using AFPplus in the eastern part of Switzerland Schweizerische Medizinische Wochenschrift, 125, 1286–1293.
• Kotzot, D., & Schinzel, A. (1995). Marden-Walker syndrome in an adult Clinical Dysmorphology, 4, 260–265.
• Kotzot, D., Bernasconi, F., Brecevic, L., Robinson, W. P., Kiss, P., Kosztolányi, G., Lurie, I. W., Superti-Furga, A., & Schinzel, A. (1995). Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus European Journal of Pediatrics, 154, 477–482. https://doi.org/10.1007/bf02029360
• Robinson, W. P., & Lalande, M. (1995). Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region Human Molecular Genetics, 4, 801–806. https://doi.org/10.1093/hmg/4.5.801
• Brown, D. M., Graemiger, R. A., Hergersberg, M., Schinzel, A., Messmer, E. P., Niemeyer, G., Schneeberger, S. A., Streb, L. M., Taylor, C. M., Kimura, A. E., Weingeist, T. A., Sheffield, V. C., & Stone, E. M. (1995). Genetic Linkage of Wagner Disease and Erosive Vitreoretinopathy to Chromosome 5q13-14 Archives of Ophthalmology, 113, 671. https://doi.org/10.1001/archopht.1995.01100050139045
• Williams, C. A., Angelman, H., Clayton-Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J. H. M., Magenis, R. E., Schinzel, A., Wagstaff, J., Whidden, E. M., & Zori, R. T. (1995). Angelman syndrome: Consensus for diagnostic criteria American Journal of Medical Genetics, 56, 237–238. https://doi.org/10.1002/ajmg.1320560224
• Mehra, S., Schmid, W., & Spiegel, R. (1995). Rapid detection of sex chromosomal aneuploidies by PCR Indian Journal of Medical Research, 101, 111–114.
• Robinson, W. P., Binkert, F., Bernasconi, F., Lorda-Sanchez, I., Werder, E. A., & Schinzel, A. A. (1995). Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection American Journal of Human Genetics, 56, 444–451.
• Lurie, I. W., Ilyina, H. G., Gurevich, D. B., Rumyantseva, N. V., Naumchik, I. V., Castellan, C., Hoeller, A., & Schinzel, A. (1995). Trisomy 2p: Analysis of unusual phenotypic findings American Journal of Medical Genetics, 55, 229–236. https://doi.org/10.1002/ajmg.1320550216
• Schmucker, B., Meindl, A., Achatz, H., Mittermüller, J., Krüger, G., Hergersberg, M., Spiegel, R., Schinzel, A., Belohradsky, B. H., & Murken, J. (1995). A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene Immunodeficiency, 5, 187–192.
• Iannaccone, A., Rispoli, E., Vingolo, E. M., Onori, P., Steindl, K., Rispoli, D., & Pannarale, M. R. (1995). Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa Documenta Ophthalmologica. Advances in Ophthalmology, 90, 129–142. https://doi.org/10.1007/BF01203333
• Kotzot, D., Schmitt, S., Bernasconi, F., Robinson, W. P., Lurie, I. W., Ilyina, H., Méhes, K., Hamel, B. C. J., Otten, B. J., Hergersberg, M., Werder, E., Schoenle, E., & Schinzel, A. (1995). Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation Human Molecular Genetics, 4, 583–587. https://doi.org/10.1093/hmg/4.4.583