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.
Exportable List
ZORA Publication List
Download Options
Publications
-
Provision of genetic services in Europe: current practices and issues. European Journal of Human Genetics, 11(S2):S13-S48.
-
Problems in detecting mosaic DNA methylation in Angelman syndrome. European Journal of Human Genetics, 11(12):913-915.
-
NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. Investigative Ophthalmology & Visual Science [IOVS], 44(10):4184-4191.
-
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Human Mutation, 22(3):199-208.
-
ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers. American Journal of Medical Genetics. Part A, 121A(2):146-150.
-
A novel 5q35.3 subtelomeric deletion syndrome. American Journal of Medical Genetics. Part A, 121A(1):1-8.
-
Genetische Ursachen degenerativer Netzhauterkrankungen des Menschen. Therapeutische Umschau : Monatsschrift für praktische Medizin, 60(8):473-476.
-
Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. Archives of Ophthalmology, 121(8):1184-8.
-
Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation. American Journal of Medical Genetics. Part A, 120A(2):247-252.
-
Telomeres: a diagnosis at the end of the chromosomes. Journal of Medical Genetics, 40(6):385-398.
-
Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?. American Journal of Medical Genetics. Part A, 118A(4):358-361.
-
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Human Molecular Genetics, 12(8):849-858.
-
Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy. Cytogenetic and Genome Research, 101(1):5-7.
-
Cranio-cerebello-cardiac (3C) syndrome: Follow-up study of the original patient. American Journal of Medical Genetics. Part A, 118A(1):55-59.
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