2003
ZORA-Hinweis zur Angaben der Autoren
- In der exportierbaren Liste werden Publikationen mit weniger als 30 Autoren 1:1 in ZORA übernommen. Es werden keine Autorennamen gelöscht. --> Grund: vollständige Metadaten pro Publikation, auch zur weiteren Verwendung (z.B. in der Swisscovery).
- Bei Publikationen mit mehr (>30) Autoren werden die Autoren beim Import automatisch auf die Zahl 30 gekürzt. Im selben Schritt wird ein "et al." erstellt. Wenn dadurch UZH-Autoren ausgelassen werden, wurden sie am Ende, nach "et al.", hinzugefügt.
- Mehr Information: Varia | Universitätsbibliothek Zürich | UZH
- Für die vollständige Auflistung der Autoren in der Reihenfolge ihrer Veröffentlichung verwenden Sie bitte die Textdatei am Ende dieser Seite.
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ZORA Publication List
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Publications
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Provision of genetic services in Europe: current practices and issues. European Journal of Human Genetics, 11(S2):S13-S48.
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Problems in detecting mosaic DNA methylation in Angelman syndrome. European Journal of Human Genetics, 11(12):913-915.
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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.
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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Human Mutation, 22(3):199-208.
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ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers. American Journal of Medical Genetics. Part A, 121A(2):146-150.
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A novel 5q35.3 subtelomeric deletion syndrome. American Journal of Medical Genetics. Part A, 121A(1):1-8.
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Genetische Ursachen degenerativer Netzhauterkrankungen des Menschen. Therapeutische Umschau : Monatsschrift für praktische Medizin, 60(8):473-476.
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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.
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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.
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Telomeres: a diagnosis at the end of the chromosomes. Journal of Medical Genetics, 40(6):385-398.
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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.
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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.
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Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy. Cytogenetic and Genome Research, 101(1):5-7.
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Cranio-cerebello-cardiac (3C) syndrome: Follow-up study of the original patient. American Journal of Medical Genetics. Part A, 118A(1):55-59.
Textdatei
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