2006

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ZORA-Hinweis zur Angaben der Autoren

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Tyshchenko, N. A., Riegel, M., Evseenkova, E. G., Zerova, T. E., Gorovenko, N. G., & Schinzel, A. (2006). 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, 128–132. https://doi.org/10.1016/j.ejmg.2006.10.008
Kniestedt, C., Taralczak, M., Thiel, M. A., Stuermer, J., Baumer Wolz, A., & Gloor, B. P. (2006). A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs’ endothelial dystrophy. Ophthalmology, 113, 1791.e1-1797.e2. https://doi.org/10.1016/j.ophtha.2006.05.017
Borozdin, W., Bravo Ferrer Acosta, A. M., Bamshad, M. J., Botzenhart, E. M., Froster, U. G., Lemke, J. R., Schinzel, A., Spranger, S., McGaughran, J., Wand, D., Chrzanowska, K. h, & Kohlhase, J. (2006). 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 Human Mutation, 27, 975–976. https://doi.org/10.1002/humu.9449
Koolen, D. A., Vissers, L. E. L. M., Pfundt, R., de Leeuw, N., Knight, S. J. L., Regan, R., Kooy, R. F., Reyniers, E., Romano, C., Fichera, M., Schinzel, A., Baumer Wolz, A., Anderlid, B.-M., Schoumans, J., Knoers, N. V., van Kessel, A. G., Sistermans, E. A., Veltman, J. A., Brunner, H. G., & de Vries, B. B. A. (2006). A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism Nature Genetics, 38, 999–1001. https://doi.org/10.1038/ng1853
Utermann, B., Riegel, M., Leistritz, D., Karall, T., Wisser, J., Meisner, L., Fauth, C., Baldinger, R., Johnson, J., Erdel, M., Taralczak, M., Pauli, R. M., Baumer Wolz, A., Schinzel, A., & Kotzot, D. (2006). Pre- and postnatal findings in trisomy 17 mosaicism American Journal of Medical Genetics. Part A, 140, 1628–1636. https://doi.org/10.1002/ajmg.a.31319
Feenstra, I., Fang, J., Koolen, D. A., Siezen, A., Evans, C., Winter, R. M., Lees, M. M., Riegel, M., de Vries, B. B. A., van Ravenswaaij, C. M. A., & Schinzel, A. (2006). European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities European Journal of Medical Genetics, 49, 279–291. https://doi.org/10.1016/j.ejmg.2005.10.131
Niedrist, D., Riegel, M., Achermann, J., & Schinzel, A. (2006). Survival with trisomy 18--data from Switzerland American Journal of Medical Genetics. Part A, 140, 952–959. https://doi.org/10.1002/ajmg.a.31172
Gaspar, H., Michel-Calemard, L., Morel, Y., Wisser, J., Stallmach, T., & Schinzel, A. (2006). Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy Prenatal Diagnosis, 26, 392–393. https://doi.org/10.1002/pd.1420
Meier, C. A., Brändle, M., Clerici, T., Gomez, F., Komminoth, P., Portmann, L., Mullis, P.-E., Pralong, F. P., Schmid, C., Zumsteg, U. W., Fokstuen, S., Antonarakis, S. E., Blouin, J.-L., Braga, S., Miny, P., Schinzel, A., & Schorderet, D. F. (2006). Empfehlungen zur Durchführung von Gentests bei Patienten mit multipler endokriner Neoplasie (MEN) Swiss Medical Forum, 6, 299–303. https://doi.org/10.4414/smf.2006.05818
Riegel, M., Wisser, J., Baumer Wolz, A., & Schinzel, A. (2006). Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations Prenatal Diagnosis, 26, 221–225. https://doi.org/10.1002/pd.1383
Williams, C. A., Beaudet, A. L., Clayton-Smith, J., Knoll, J. H., Kyllerman, M., Laan, L. A., Magenis, R. E., Moncla, A., Schinzel, A., Summers, J. A., & Wagstaff, J. (2006). Angelman syndrome 2005: updated consensus for diagnostic criteria American Journal of Medical Genetics. Part A, 140, 413–418. https://doi.org/10.1002/ajmg.a.31074
Lecce, R., Murdolo, M., Gelli, G., Steindl, K., Coppola, L., Romano, A., Cupelli, E., Neri, G., & Zollino, M. (2006). The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12 Human Genetics, 118, 760–766. https://doi.org/10.1007/s00439-005-0085-x
Zeitz, C., et al, & Berger, W. (2006). Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness American Journal of Human Genetics, 79, 657–667. https://doi.org/10.1086/508067
Neidhardt, J., Barthelmes, D., Farahmand, F., Fleischhauer, J. C., & Berger, W. (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes Investigative Ophthalmology & Visual Science, 47, 1630–1635. https://doi.org/10.1167/iovs.05-1317
Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., Boileau, C., Berger, W., & Steinmann, B. (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders Human Mutation, 27, 760–769. https://doi.org/10.1002/humu.20353
Niedrist, D., Riegel, M., Achermann, J., Rousson, V., & Schinzel, A. (2006). Trisomy 18: changes in sex ratio during intrauterine life American Journal of Medical Genetics. Part A, 140, 2365–2367. https://doi.org/10.1002/ajmg.a.31474
Bartholdi, D., Klein, A., Weissert, M., Koenig, N., Baumer, A., Boltshauser, E., Schinzel, A., Berger, W., & Mátyás, G. (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene Clinical Genetics, 69, 319–326. https://doi.org/10.1111/j.1399-0004.2006.00604.x
Wycisk, K. A., Budde, B., Feil, S., et al, Buzzi, F., Neidhardt, J., Glaus, E., Nürnberg, P., & Berger, W. (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation Investigative Ophthalmology & Visual Science, 47, 3523–3530. https://doi.org/10.1167/iovs.06-0271
Wycisk, K. A., Zeitz, C., Feil, S., Wittmer, M., Forster, U., Neidhardt, J., Wissinger, B., Zrenner, E., Wilke, R., Kohl, S., & Berger, W. (2006). Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy American Journal of Human Genetics, 79, 973–977. https://doi.org/10.1086/508944
Baumgartner, C., Mátyás, G., Steinmann, B., Eberle, M., Stein, J. I., & Baumgartner, D. (2006). A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations Journal of Biomedical Informatics, 39, 171–183. https://doi.org/10.1016/j.jbi.2005.06.001

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

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