2007
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- 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".
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- 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.
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Publications
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Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. Journal of Medical Genetics, 44(12):750-762.
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Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy (UPD): a case report. Prenatal Diagnosis, 27(11):1072-1074.
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Identification and characterization of a novel RPGR isoform in human retina. Human Mutation, 28(8):797-807.
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Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human Genetics, 122(1):23-32.
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Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. Journal of Medical Genetics, 44(5):327-333.
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Ohne X geht nix. Praxis, 96(12):463-464.
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Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review. American Journal of Medical Genetics. Part A, 143(4):399-408.
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A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. American Journal of Medical Genetics. Part A, 143A(3):258-264.
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Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male. Cytogenetic and Genome Research, 118(1):38-41.
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Phenotypic and cytogenetic spectrum of 9p trisomy. Genetic Counseling, 18(1):29-48.
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Self-organized critical noise amplification in human closed loop control. Frontiers in Computational Neuroscience, 1:4.
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Development of a genotyping microarray for Usher syndrome. Journal of Medical Genetics, 44(2):153-60.
Textfile
Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D, Petersen MB, Shears D, Stolte-Dijkstra I, Van Hagen JM, Ala-Kokko L, Männikkö M, Mortier GR A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies Am J Med Genet 2007;143A:258-264
Rochat MK, Riegel M, Schinzel AA Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review Am J Med Genet 2007;143A:399-408
Tyshchenko NA, Riegel M, Evseenkova EG, Zerova TE, Gorovenko NG, Schinzel A Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations Eur J Med Genet 2007;50:128-132
Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJM Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300 J Med Genet 2007;44:327-333
Ceylaner G, Ceylaner S, Danışman N, Ergün A, Ekici E, Schinzel A, Baumer A Chromosomal heteromorphisms may help fort he diagnosis of uniparental disomy (UPD): a case report Prenat Diagn 2007;27:1072-1074
Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome J Med Genet 2007;44:651-656
Baumer A, Basaran S, Taralczak M, Cefle K, Ozturk S, Palanduz S, Schinzel A Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male Cytogenet Genome Res 2007;18:38-41
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vtro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero B, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previdero C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients J Med Genet 2007;44:750-762