2002

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ZORA note on the authors' stated information

In the exportable list, publications with less than 30 authors are transferred 1:1 to ZORA. No author names are deleted. --> Reason: complete metadata per publication, also for further use (e.g. in Swisscovery).
For publications with more (>30) authors, the authors are automatically truncated to the number 30 during import. In the same step, an "et al" is created. If this leaves out UZH authors, they were added at the end, after "et al".
More information: Varia | University Library Zurich | UZH
For the complete listing of authors in order of publication, please use the authors list at the original publication. Or alternatively use the text file at the bottom of this page.

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Publications

Koch, Andreas; Buheitel, Gernot; Hofbeck, Michael; Rauch, Anita; Kraus, Cornelia; Tassabehji, Mayada; Singer, Helmut (2002). Spectrum of arterial obstructions caused by one elastin gene point mutation. European Journal of Pediatrics, 162(1):53-54.
Baumer Wolz, Alessandra; Giovannucci Uzielli, M L; Guarducci, S; Lapi, Elisabetta; Röthlisberger, B; Schinzel, Albert (2002). Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. American Journal of Medical Genetics, 113(1):101-104.
Thiel, Christian T; Kraus, Cornelia; Rauch, Anita; Ekici, Arif B; Rautenstrauss, Bernd; Reis, André (2002). A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. European Journal of Human Genetics, 11(2):170-178.
Matin, Maryam M; Baumer Wolz, Alessandra; Hornby, David P (2002). An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC. Human Mutation, 20(4):305-311.
Binkert, Franz (2002). Werner Schmid 1930-2002. American Journal of Medical Genetics, 112(2):231-232.
Zankl, Andreas; Eberle, Lukas; Molinari, Luciano; Schinzel, Albert (2002). Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years. American Journal of Medical Genetics, 111(4):388-391.
Mutter, Michael; Binkert, Franz; Schinzel, Albert (2002). Down syndrome livebirth rate in the eastern part of Switzerland between 1980 and 1996 stays constant in spite of growing numbers of prenatally diagnosed and subsequently terminated cases. Prenatal Diagnosis, 22(9):835-836.
Binkert, Franz; Mutter, Michael; Schinzel, Albert (2002). Impact of prenatal diganosis on the prevalence of live births with Down sysndrome in the eastern half of Switzerland 1980-1996. Swiss Medical Weekly, 132(3334):478-484.
Binkert, Franz; Mutter, Michael; Schinzel, Albert (2002). Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996. Swiss Medical Weekly, 132(33-34):478-484.
Riegel, Mariluce; Schinzel, Albert (2002). Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?. American Journal of Medical Genetics, 111(1):76-80.
Wutz, Krisztina; Sauer, Christian; Zrenner, Eberhart; Lorenz, Birgit; Alitalo, Tiina; Broghammer, Martina; Hergersberg, Martin; de la Chapelle, Albert; Weber, Bernhard H F; Wissinger, Bernd; Meindl, Alfons; Pusch, Carsten M (2002). Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. European Journal of Human Genetics, 10(8):449-456.
Baumer Wolz, Alessandra (2002). Analysis of the methylation status of imprinted genes based on methylation-specific polymerase chain reaction combined with denaturing high-performance liquid chromatography. Methods, 27(2):139-43.
Schlegel, Monika; Baumer Wolz, Alessandra; Riegel, Mariluce; Wiedemann, Ute; Schinzel, Albert (2002). Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. Prenatal Diagnosis, 22(5):418-21.
Czakó, Márta; Riegel, Mariluce; Morava, Eva; Schinzel, Albert; Kosztolányi, György (2002). Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1). American Journal of Medical Genetics, 108(3):226-228.
Zweier, Christiane; Albrecht, Beate; Mitulla, Beate; Behrens, Rolf; Beese, Maike; Gillessen-Kaesbach, Gabriele; Rott, Hans-Dieter; Rauch, Anita (2002). "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. American Journal of Medical Genetics, 108(3):177-181.
Schmid, Werner (2002). BSE und die variante Creutzfeldt-Jakob-Krankheit (vCJD). Swiss Medical Forum, 2(10):217-218.
Koch, Andreas; Hofbeck, Michael; Buheitel, Gernot; Dörr, Helmuth-Günther; Rauch, Anita; Rauch, Ralf; Singer, Helmut (2002). Hypoparathyroidism in conotruncal heart defects. European Journal of Pediatrics, 161(4):208-211.
Rauch, Ralf; Rauch, Anita; Koch, Andreas; Kumpf, Matthias; Dufke, Andreas; Singer, Helmut; Hofbeck, Michael (2002). Cervical origin of the subclavian artery as a specific marker for monosomy 22q11. American Journal of Cardiology, 89(4):481-484.
Schinzel, Albert (2002). Isochromosomes. In: Kazazian, Haig H; et al. Wiley Encyclopedia of Molecular Medicine. New York: Wiley, 1832-1834.
Schinzel, Albert (2002). Chromosome Deletions and Duplications. In: Kazazian, Haig H; et al. Wiley Encyclopedia of Molecular Medicine. New York: Wiley, 830-832.

Pagination

Textfile

Publikacations listed at 31/12/2002

Isochromosomes. Wiley Encyclopedia of Molecular Medicine, Vol. 5, pp1832-1834. J. Wiley + Sons, Inc., New York (2002).

Schinzel A. Chromosome deletions and duplications. Wiley Encyclopedia of Molecular Medicine, Vol. 5, pp830-832. J. Wiley + Sons, Inc., New York (2002).

Czakó M, Riegel M, Morava E, Schinzel A, Kosztolányi G. Patient with rheumatoid arthritis and a MCA/MR syndrome due to unbalanced transmission of a paternal translocation t(18;20)(p11.1;p11.1). Am J Med Genet 2002;108:226-228.

Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A. Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. Prenat Diagn 2002; 22:418-421.

Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Brohammer M, Hergersberg M, de la Chapelle A, Weber BHF, Wissinger B, Meindl A, Pusch CM. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet 2002; 10:449-456.

Zankl A, Eberle L Molinari L, Schinzel A. Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years. Am J Med Genet 2002; 111:388-391.

Baumer A, Giovannucci Uzielli ML, Guarducci S, Lapi E, Röthlisberger B, Schinzel A. Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. Am J Med Genet 2002; 113:101-104.

Schinzel A. Werner Schmid, 13.2.1930 – 3.1.2002. medgen 2002; 14:88-89.

Riegel M, Schinzel A. Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palat: Another clefting gene locus on proximal 2q? Am J Med Genet 2002; 111 and 113:76-80 and 313.

Mutter M, Binkert F, Schinzel A. Down syndrome livebirth rate in the eastern part of Switzerland between 1980 and 1996 stays constant in spite of growing numbers of prenatally diagnosed and subsequently terminated cases. Prenat Diagn 2002; 22:835-836.

Schinzel A. Werner Schmid, 1930-2002. Cytogenet Genome Res 2002; 97:5-6.

Dorn T, Schinzel A. Genetik, gegenwärtiger Stand (in der Schweiz) und absehbare Entwicklungen. In: Krämer G, Wieser H-G Hrsg.). Epilepsie-Bericht Schweiz (2002). Hippocampus-Verlag, Bad Honneff, 2002, S. 40-45.

Baumer A. Analysis of the methylaton status of imprinted genes based on methylation-specific polymerase chain reaction combined with denaturing high-performance liquid chromatography. Methods 2002; 27:139-143.

Matin MM, Baumer A, Hornby DP. An analythical method for the deletion of methylation differences at specific chromosomal loci using primer extension and lon, pair reverse phase HPLC. Hum Mutat 2002; 20:305-311.

Binkert F, Mutter M, Schinzel A. Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996. Swiss Med Weekly 2002; 132:478-484.

Schwartz IV, Felix TM, Riegel M, Schuler-Faccini L. Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma. Clin Dysmorphol 2002; 11:199-202.

De Molfetta GA, Felix TM, Riegel M, Ferraz VE, Pina Neto JM. A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. Arq Neuropsiquiatr 2002; 60:1011-1014.

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