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Institute of Medical Genetics News, Events & Publications

2003

Table of contents

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

Textfile

Zankl A, Güngör T, Schinzel A Cranio-cerebello-cardiac (3C) syndrome: A follow-up study of the original patient Am J Med Genet 2003;118A:55-59

Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions Hum Mol Genet 2003;12:1-10

Schinzel A Holger W. Höhn zum 60. Geburtstag medgen 2003;15:87

Zankl A, Rampa A, Schinzel A Brachmann-de Lange Syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative BDLS gene mutation? Am J Med Genet 2003;120A:358-361

De Vries BBA, Winter R, Schinzel A, van Ravenswaaij-Arts C Telomeres: a diagnosis at the end of the chromosomes J Med Genet 2003;40:385-398

Piram A, Ortolan D, Peres LC, Monteiro Pina-Neto J, Riegel M, Schinzel A Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation Am J Med Genet 2003;118A:247-252

Riegel M, Baumer A, Schinzel A No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver-Russell syndrome cases Clin Genet 2003;64:252-254

Baumer A, Dres D, Basaran S, Isçi H, Dehgan T, Schinzel A Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy Cytogenet Genome Res 2003;101:5-7

Niedrist D, Schinzel A Chromosomenaberrationen und Epilepsie Epileptologie 2003;20:96-105

Horsthemke B, Lich C, Buiting K, Achmann R, Aulehla-Scholz C, Baumer A, Bürger J, Dworniczak B, Gläser D, Holinski-Feder E, Janssen B, Kleinle S, Kochhan L, Krasemann E, Kraus C, Kroisel P, Plendl H, Purmann S, Sander G, Skladny H, Spitzer E, Thamm-Mücke B, Varon-Mateeva R, Weinhäusel A, Weirich H Problems in detecting mosaic DNA methylation in Angelman syndrome Eur J Hum Genet 2003;11:913-915

de Azevedo Moreira LM, Magalhães Freitas L, Ferreira Gusmão FA, Riegel M New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl Birth Defects Res (A) 2003;67:985-988

Zankl A, Molinari L ABase - a tool for the rapid assessment of anthropometric measurements on handheld computers Am J Med Genet 2003;121A:146-150

Schinzel A, Riegel M, Baumer A Microdeletion Syndromes Nature Encyclopedia of the Human Genome (Ed. Cooper DN et. al., Nature Publishing Group, 2003);4:950-954

Schinzel A, Baumer A Uniparental Disomy Nature Encyclopedia of the Human Genome (Ed. Cooper DN et. al., Nature Publishing Group, 2003);5:695-699

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