Schinzel
Fakultäten » Medizinische Fakultät » Medizinische Genetik, Institut für » Prof. Dr. Albert Schinzel (emeritiert) » Schinzel
Completed research project
| Title / Titel | Clinical delineation of malformation syndromes of genetic etiology | ||||||
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| Abstract (PDF, 14 KB) | |||||||
| Summary / Zusammenfassung | At our clinical services, our physicians see and examine many patients with unrecognized syndromes. These are a continuous source for clinical genetic investigations. During this period, research was focused on Escher-Hirt syndrome, acrocallosal syndrome, Williams-Beuren syndrome, Moyamoya disease, de Lange syndrome, a variant of EEC syndrome, 3C syndrome, Teebi syndome, Rubinstein-Taybi syndrome, oculo-dento-cardio-facial syndrome and stiff skin syndrome. | ||||||
| Publications / Publikationen | Weymann S, Yonekawa Y, Khan N, Martin E, Heppner F L, Schinzel A, Kotzot D Severe Arterial Occlusive Disorder and Brachysyndactyly in a Boy: A Further Case of Grange Syndrome? Am J Med Genet 2001;99:190-195Zankl A, Güngör T, Schinzel A Cranio-cerebello-cardiac (3C) syndrome: Follow-up study of the original patient Am J Med Genet 2003;118A:55-59Zankl A, Rampa A, Schinzel A Brachmann-de Lange Syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative gene mutation? Am J Med Genet 2003;118A:358-361Zankl A, Scheffer H, Schinzel A. Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity? Am J Med Genet 2004;127A:74-80Khan N, Schinzel A, Shuknecht B, Baumann F, Ostergaard JR, Yonekawa Y. Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? Eur Neurol 2004;51:72-7.So J, Suckow V, Kijas Z,.., Schinzel A,.. Schweiger S Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations Am J Med Genet 2005;132A:1-7Roelfsma JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJB, Breuning MH, Hennekam RC, Peters DJ Genetic heterogeneity in Rubinstein.Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease Am J Hum Genet 2005;76:572-580Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Matyas G Clinical profiles of four patients with Rett syndrome cyrrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene Clin Genet 2006;69:319-326Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllermann M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J Angelman syndrome 2005: updated consensus for diagnostic criteria Am J Med Genet 2006;140A:413-418 |
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| Keywords / Suchbegriffe | Clinical Dysmorphology, Rubinstein-Taybi syndrome, Opitz Hypertelorism-Hypospadias syndrome | ||||||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
Universität Zürich (position pursuing an academic career), Others |
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| In collaboration with / In Zusammenarbeit mit |
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| Duration of Project / Projektdauer | Jan 2000 to Jan 2010 |