1991

ZORA Publication List

Publications

• Robinson, Wendy P; Bottani, Armand; Yagang, Xie; Balakrishman, Jaya; Binkert, Franz; Mächler, Marco; Prader, Andrea; Schinzel, Albert (1991). Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. American Journal of Human Genetics, 49(6):1219-1234.
• Lorenz, Peter; Bollmann, Rainer; Hinkel, Georg Klaus; Mächler, Marco; Siegert, Gabriele; Stamminger, Gudrun; Wendisch, Jörg; Ziemer, Sabine (1991). False‐negative prenatal exclusion of Wiskott‐Aldrich syndrome by measurement of fetal platelet count and size. Prenatal Diagnosis, 11(11):819-825.
• Lorda-Sanchez, Isabel; Binkert, Franz; Maechler, Marco; Schinzel, Albert (1991). A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation. American Journal of Human Genetics, 49(5):1034-1040.
• Spiegel, Roland; Mächler, Marco; Stocker, H P; Boltshauser, Eugen; Schmid, Werner (1991). Neurofibromatosis Type 1: genetic studies with DNA markers in 38 families. Schweizerische Medizinische Wochenschrift, 121(40):1445-52.
• Bottani, Armand; Xie, Yagang; Binkert, Franz; Schinzel, Albert (1991). A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus. Human Genetics, 87(6):748-750.
• Gal, Andreas; Artlich, Andreas; Ludwig, Michael; Niemeyer, Günter; Olek, Klaus; Schwinger, Eberhard; Schinzel, Albert (1991). Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics, 11(2):468-470.
• Petersen, Michael B; Adelsberger, Patricia A; Schinzel, Albert A; Binkert, Franz; Hinkel, Georg K; Antonarakis, Stylianos E (1991). Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal. American Journal of Human Genetics, 49(3):529-536.
• Tommerup, Niels; Søndergaard, F; Hanauer, A; Oberle, I; Bang, J; Barbi, B; Bech, B; Davies, K; Froster-Iskenius, U; Gustavson, K-H; van der Hagen, C B; Heiberg, Arvid; Kristoffersen, U; Mikkelsen, Margareta; Miny, Peter; Nielsen, K B; Rasmussen, Kim; Schinzel, Albert; Tranebjaerg, Lisbeth; Tønnesen, T; Wahlström, J (1991). Early prenatal diagnosis of the fragile site AT Xq27.3 associated with Martin-Bell syndrome. Prenatal Diagnosis, 11(8):609-619.
• Schinzel, Albert; Binkert, Franz; Lillington, Debra M; Sands, Margaret; Stocks, Richard J; Lindenbaum, Richard H; Matthews, Helen; Sheridan, Hilary (1991). Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype. Journal of Medical Genetics, 28(5):352-355.
• Schinzel, Albert (1991). Tetrasomy 12p (Pallister-Killian syndrome). Journal of Medical Genetics, 28(2):122-125.
• Schinzel, Albert A (1991). Uniparental disomy and gene localization. American Journal of Human Genetics, 48(2):424-425.
• Pratt, Victoria M; Trofatter, James A; Schinzel, Albert; Dlouhy, S R; Conneally, P M; Hodes, M E (1991). A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus‐Merzbacher disease. American Journal of Medical Genetics, 38(1):136-139.
• Frézal, J; Schinzel, Albert; Neil, D L (1991). Report of the committee on clinical disorders, chromosome aberrations and uniparental disomy. Cytogenetic and Genome Research, 58(3-4):986-1052.
• Lorda-Sanchez, Isabel; Petersen, Michael B; Binkert, Franz; Maechler, Marco; Schmid, Werner; Adelsberger, Patricia A; Antonarakis, Stylianos E; Schinzel, Albert (1991). A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21. Human Genetics, 87(1):54-56.
• Guardamagna, O; Spada, M; Ponzone, A; Viora, E; Ponzone, R; Binkert, F; Matasovic, A; Kierat, L; Blau, N (1991). Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy. Pteridines, 3(1-2):19-21.
• Braegger, C; Bottani, A; Halle, F; Giedion, Andres; Leumann, E; Seger, R; Willi, U; Schinzel, Albert (1991). Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. Journal of Medical Genetics, 28(1):56-59.
• Petersen, Michael B; Schinzel, Albert A; Binkert, Franz; Tranebjaerg, Lisbeth; Mikkelsen, Margareta; Collins, Felicity A; Economou, Effrosini P; Antonarakis, Stylianos E (1991). Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome. American Journal of Human Genetics, 48(1):65-71.