2006
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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Publikationen
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Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations. European Journal of Medical Genetics, 50(2):128-32.
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A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. Ophthalmology, 113(10):1791.e1-1797.e2.
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nature Genetics, 38(9):999-1001.
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Pre- and postnatal findings in trisomy 17 mosaicism. American Journal of Medical Genetics. Part A, 140(15):1628-1636.
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European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. European Journal of Medical Genetics, 49(4):279-291.
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Survival with trisomy 18--data from Switzerland. American Journal of Medical Genetics. Part A, 140(9):952-959.
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Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy. Prenatal Diagnosis, 26(4):392-393.
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Empfehlungen zur Durchführung von Gentests bei Patienten mit multipler endokriner Neoplasie (MEN). Swiss Medical Forum, 6(12):299-303.
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Angelman syndrome 2005: updated consensus for diagnostic criteria. American Journal of Medical Genetics. Part A, 140(5):413-418.
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Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations. Prenatal Diagnosis, 26(3):221-225.
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Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. Audiology and Neurotology, 11(5):269-275.
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Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. American Journal of Human Genetics, 79(4):657-667.
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Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. American Journal of Human Genetics, 79(5):973-977.
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Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology and Visual Science, 47(8):3523-3530.
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Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative Ophthalmology and Visual Science, 47(4):1630-1635.
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Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human Mutation, 27(8):760-769.
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A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations. Journal of Biomedical Informatics, 39(2):171-183.
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Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.
Seitennummerierung
Textdatei
Williams 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
Riegel M, Wisser J, Baumer A, Schinzel A Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations Prenat Diagn 2006;26:221-225
Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshasuer E, Schinzel A, Berger W, Mátyás G Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene Clin Genet 2006;69:319-326
Gaspar H, Michel-Calemard L, Morel Y, Wisser J, Stallmach T, Schinzel A Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy Prenat Diagn 2006;26:392-393
Niedrist D, Riegel M, Achermann J, Schinzel A Survival with trisomy 18 – data from Switzerland Am J Med Genet 2006;140A:952-959
Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W Identification of the genetic defect in the original Wagner syndrome family Molecular Vision 2006;12:350-355
Santos RLP, Häfner FM, Huygen PLM, Linder TE, Schinzel AA, Spillmann T Leal SM Phenotypic characterization of DFNA 24: Prelingual sensorineural hearing impairment Audiol Neurotol 2006;11:269-275
Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D Pre- and postnatal findings in trisomy 17 mosaicism Am J Med Genet 2006;140A:1628-1636
Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BBA, Van Ravenswaaj CMA, Schinzel A European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities Eur J Med Genet 2006;49:279-291
Koolen DA, Vissers LELM, Pfundt R, de Leeuw N, Knight SJL, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid B-M, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BBA A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism Nat Genet 2006;38:999-1001
Schinzel A, Klinische Beispiele von Chromosomenaberrationen In: Murken J, Grimm T, Holinski-Feder E, Taschenlehrbuch Humangenetik, 7.A., Thieme (Stuttgart/New York) 2006, S. 199-234
Niedrist D, Riegel M, Achermann J, Rousson V, Schinzel A Trisomy 18: Changes in sex ratio during intrauterine life Am J Med Genet 2006;140A:2365-2367
Borodzin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: Detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations Hum Mutat 2006; MiB #920:Online
Kniestedt C, Taralczak M, Thiel MA, Stuermer J, Baumer A, Gloor BP A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs’ endothelial dystrophy Ophthalmology 2006; 113:1791.e1-8
Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tönnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24) Ann Hum Genet 2006; 70:958-964
Pajic B, Weigell-Weber M, Schipper I, Kryenbuhl C, Buchi ER, Spiegel R, Hergersberg M A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy Retina 2006;26(8):947-953