1990

ZORA Publication List

Publications

• Farrar, G Jane; Kenna, Paul; Redmond, R; McWilliam, P; Bradley, D G; Humphries, M M; Sharp, E M; Inglehearn, Chris F; Bashir, R; Jay, M; Watty, A; Ludwig, M; Schinzel, Albert; Samanns, C; Gal, A; Bhattacharya, S; Humphries, P (1990). Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline->histidine substitution (codon 23) in pedigrees from Europe. American Journal of Human Genetics, 47(6):941-5.
• Antonarakis, Stylianos E; Adelsberger, Patricia A; Petersen, Michael B; Binkert, Franz; Schinzel, Albert A (1990). Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. American Journal of Human Genetics, 47(6):968-972.
• Schinzel, Albert; Hof, E; Dangel, P; Robinson, Wendy (1990). Familial congenital laryngeal abductor paralysis: different expression in a family with one male and three females affected. Journal of Medical Genetics, 27(11):715-716.
• Mühlebach, T J; Robinson, Wendy; Seger, R A; Mächler, Marco (1990). A second Nsil RFLP at the CYBB locus. Nucleic Acids Research, 18(16):4966.
• Liechti‐Gallati, S; Niederer, B U; Schneider, V; Mächler, Marco; Alkan, M; Malik, N; Braga, S; Moser, H (1990). Haplotype analysis for CF‐linked DNA polymorphisms in Switzerland. Clinical Genetics, 37(6):442-449.
• Hammer, Felix; Scherrer, C; Baumann, H; Briner, J; Schinzel, Albert (1990). Inienzephalie: Pränatale und postnatale Befunde. Geburtshilfe und Frauenheilkunde, 50(6):491-494.
• Schinzel, Albert; Bernasconi, Sergio (1990). Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: A Hitherto Unreported syndrome?. American Journal of Medical Genetics, 36(2):243-246.
• Orth, Ulrike; Schinzel, Albert; Mächler, Marco; Gal, A (1990). X-chromosomal erbliche Nachtblindheit: Erkennen von Überträgerinnen durch Segregationsanalyse mit gekoppelten DNA-Markern. Klinische Monatsblätter für Augenheilkunde, 196(5):269-272.
• Schinzel, Albert (1990). Phocomelia and additional anomalies in two sisters. Human Genetics, 84(6):539-541.
• Murray, J C; Nishimura, D Y; Buetow, K H; Ardinger, H H; Spence, M A; Sparkes, R S; Falk, R E; Falk, P M; Gardner, R J M; Harkness, E M; Glinski, L P; Pauli, Richard M; Nakamura, Y; Schinzel, Albert (1990). Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq. American Journal of Human Genetics, 46(3):486-491.
• Schinzel, Albert (1990). Autistic disorder and additional inv dup(15)(pter→q13) chromosome. American Journal of Medical Genetics, 35(3):447.
• Ott, J; Caesar, J; Mächler, Marco; Schinzel, Albert; Schmid, Werner (1990). Presymptomatic Exclusion of Myotonic Dystrophy in a One-Generation Pedigree of Half-Siblings. Human Heredity, 40(5):305-307.
• Reiser, Peter; Briner, Jakob; Schinzel, Albert (1990). Skeletal muscular changes in Pena-Shokeir Sequence. Journal of Perinatal Medicine, 18(4):267-274.
• Zonana, Jonathan; Schinzel, Albert; Upadhyaya, Meena; Thomas, Nicholas S T; Anton-Lamprecht, Ingrun; Harper, Peter S (1990). Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. American Journal of Medical Genetics, 35(1):132-135.
• Leumann, Ernst P; Schinzel, Albert (1990). Genetics of Primary Hyperoxaluria. In: Spitzer, Adrian; Avner, Ellis A. Inheritance of kidney and urinary tract diseases. Boston: Springer Dordrecht, 317-323.
• Binkert, Franz; Stranzinger, Johanna; Schinzel, Albert (1990). Partial Trisomy of Chromosome 18 (pter→q12) following a Familial 18;21 Translocation rcp(18;21)(q12;q11). Human Heredity, 40(2):81-84.