1995

ZORA Publication List

Publications

• Schinzel, Albert; Lorda-Sanchez, Isabel; Binkert, Franz; Carter, N P; Bebb, C E; Ferguson-Smith, M A; Eiholzer, Urs; Zachmann, M; Robinson, Wendy P (1995). Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting. Journal of Medical Genetics, 32(12):957-961.
• Wisser, Josef; Hebisch, G; Froster, Ursula; Zerres, K; Stallmach, T; Leumann, E; Schinzel, Albert; Huch, A (1995). Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (arpkd) during the early second trimester. Prenatal Diagnosis, 15(9):868-871.
• Zimmermann, Roland; Schmid, Werner; Binkert, Franz; Achermann, Josef; Huch, R; Huch, A (1995). Trisomy-21 screening using AFPplus in the eastern part of Switzerland. Schweizerische Medizinische Wochenschrift, 125(26):1286-93.
• Kotzot, Dieter; Schinzel, Albert (1995). Marden-Walker syndrome in an adult. Clinical Dysmorphology, 4(3):260-265.
• Kotzot, Dieter; Bernasconi, Fabiana; Brecevic, Lukrecija; Robinson, Wendy P; Kiss, P; Kosztolányi, György; Lurie, Iosif W; Superti-Furga, Andrea; Schinzel, Albert (1995). Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. European Journal of Pediatrics, 154(6):477-482.
• Brown, David M; Graemiger, Roman A; Hergersberg, Martin; Schinzel, Albert; Messmer, Elmar P; Niemeyer, Günther; Schneeberger, Simon A; Streb, Luan M; Taylor, Chris M; Kimura, Alan E; Weingeist, Thomas A; Sheffield, Val C; Stone, Edwin M (1995). Genetic Linkage of Wagner Disease and Erosive Vitreoretinopathy to Chromosome 5q13-14. Archives of Ophthalmology, 113(5):671.
• Robinson, W P; Lalande, M (1995). Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region. Human Molecular Genetics, 4(5):801-806.
• Williams, Charles A; Angelman, Harry; Clayton-Smith, Jill; Driscoll, Daniel J; Hendrickson, Jill E; Knoll, Joan H M; Magenis, R Ellen; Schinzel, Albert; Wagstaff, Joseph; Whidden, Elaine M; Zori, Roberto T (1995). Angelman syndrome: Consensus for diagnostic criteria. American Journal of Medical Genetics, 56(2):237-238.
• Mehra, S; Schmid, Werner; Spiegel, Roland (1995). Rapid detection of sex chromosomal aneuploidies by PCR. Indian Journal of Medical Research, 101:111-4.
• Robinson, Wendy P; Binkert, Franz; Bernasconi, Fabiana; Lorda-Sanchez, Isabel; Werder, E A; Schinzel, Albert 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(2):444-51.
• Lurie, Iosif W; Ilyina, Helena G; Gurevich, Dora B; Rumyantseva, Natalja V; Naumchik, Irena V; Castellan, Claudio; Hoeller, Adelheid; Schinzel, Albert (1995). Trisomy 2p: Analysis of unusual phenotypic findings. American Journal of Medical Genetics, 55(2):229-236.
• Kotzot, Dieter; Schmitt, Silke; Bernasconi, Fabiana; Robinson, Wendy P; Lurie, Iosif W; Ilyina, Helena; Méhes, Károly; Hamel, Ben C J; Otten, Barto J; Hergersberg, Martin; Werder, Edmond; Schoenle, Eugen; Schinzel, Albert (1995). Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation. Human Molecular Genetics, 4(4):583-587.
• Iannaccone, A; Rispoli, E; Vingolo, E M; Onori, P; Steindl, Katharina; Rispoli, D; Pannarale, M R (1995). Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa. Documenta ophthalmologica. Advances in ophthalmology, 90(2):129-142.