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Department für Medizinische Genetik an der Medizinischen Universität Wien

Department of Medical Genetics at the Medical University of Vienna

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Publikationen der letzten Jahre

  1. 1.

    Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke A (2005) Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet 43: 451–456

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  2. 2.

    Aytekin M, Vinatzer U, Musteanu M, Raynaud S, Wieser R (2005) Regulation of the expression of the oncogene EVI1 through the use of alternative mRNA 5’-ends. Gene 356: 160–168

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  3. 3.

    Fonatsch C, Rehder H, Wieser R, Wimmer K (2005) Themenschwerpunkt: Aktuelle Aspekte der Humangenetik. Wien Med Wochenschr 155: 247–289

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  4. 4.

    Fritz B, Aslan M, Kalscheuer V, Fuchs B, Reis A, Schmidt S, Rehder H (2001) Low incidence of UPD in spontaneous abortions beyond the 5th gestational week. Eur J Hum Genet 9: 910–916

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  5. 5.

    Fritz B, Hallermann C, Olert J, Coerdt W, Fuchs B, Bruns M, Aslang M, Schmidt S, Müntefering H, Rehder H (2001) Cytogenetic analyses of culture failures by comparative genomic hybridization (CGH) – Re-evaluation of chromosome aberration rates in early spontaneous abortions. Eur J Hum Genet 9: 539–547

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  6. 6.

    Fritz B, Kunz J, Ørstavik K, Louwen F, Kennerknecht I, Friedrich U, Rehder H (2005) Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene? Eur J Hum Genet 13: 34–40

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  7. 7.

    Gleißner B, Gökbuget N, Bartram CR, Janssen B,. Rieder H, Janssen JWG, Fonatsch C, Heyll A, Voliotis D, Beck J, Lipp T, Munzert G, Maurer J, Hoelzer D, Thiel E, and the German Multicenter Trials of Adult Acute Lymphoblastic Leukemia Study Group (2002) Leading prognostic relevance of the BCR-ABL translocation in adult acute B-lineage lymphoblastic leukemia: a prospective study of the German Multicenter Trial Group and confirmed polymerase chain reaction analysis. Blood 99: 1536–1543

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  8. 8.

    Haferlach C, Rieder H, Lillington DM, Dastugue N, Hagemeijer A, Harbott J, Stilgenbauer S, Knuutila S, Johansson B, Fonatsch C on behalf of the European Leukemia Net – Workpackage Cytogenetics (2007) Proposals for standardized protocols for cytogenetic analyses of acute leukemias, chronic lymphocytic leukemia, chronic myeloid leukemia, chronic myeloproliferative disorders and myelodysplastic syndromes. Genes Chromosomes Cancer 46: 494–499

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  9. 9.

    Horvath J, Fliegauf M, Olbrich H, Kispert A, King SM, Mitchison H, Zariwala MA, Knowles MR, Sudbrak R, Fekete G, Neesen J, Reinhardt R, Omran H (2005) Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. Am J Respir Cell Mol Biol 33: 41–47

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  10. 10.

    Kainz B, Fonatsch C, Schwarzinger I, Sperr WR, Jäger U, Gaiger A (2005) Limited value of FLT3 mRNA expression in the bone marrow for prognosis and monitoring of patients with acute myeloid leukaemia. Haematologica 90: 695–696

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  11. 11.

    Laccone F, Zoll B, Huppke P, Hanefeld F, Pepinski W, Trappe R (2002) MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. J Med Genet 39: 586–588

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  12. 12.

    Laccone F, Junemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D (2004) Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mutat 23: 234–244; Erratum in: Hum Mutat 23: 395

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  13. 13.

    Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, Neesen J, Engel W (2006) ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet 79: 351–357

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  14. 14.

    Mendoza-Lujambio I, Burfeind P, Dixkens C, Meinhardt A, Hoyer-Fender S, Engel W, Neesen J (2002) The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse. Hum Mol Genet 11: 1647–1658

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  15. 15.

    Rashid S, Breckle R, Hupe M, Geisler S, Doerwald N, Neesen J (2006) The murine Dnali1 gene encodes a flagellar protein that interacts with the zytoplasmic dynein heavy chain 1. Mol Reprod Dev 73: 784–794

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  16. 16.

    Rehder H (2000) Fehlentwicklung des ableitenden Harnwegsystems im Fetus. In: Wullich B, Zang K (Hrsg) Genetik von Krankheiten des Urogenitalsystems. Springer, Berlin Heidelberg New York, S 56–78

  17. 17.

    Sauter S, Engel W, Neumann LM, Kunze J, Neesen J (2004) Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 23: 98

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  18. 18.

    Schoner K, Bald R, Fritz B, Rehder H (in press) Fetal manifestation of the FINE-LUBINSKY-syndrome (brachycephaly, deafness, cataract, microstomia, and mental retardation syndrome) complicated by Pierre-Robin anomaly and polyhydramnios. Fetal Diagn Ther

  19. 19.

    Schubert C, Laccone F (2006) Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR. Int J Mol Med 18: 799–806

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  20. 20.

    Storlazzi CT, Fioretos T, Surace C, Lonoce A, Mastrorilli A, Strömbeck B, D’Addabbo P, Iacovelli F, Minervini C, Aventin A, Dastugue N, Fonatsch C, Hagemeijer A, Jotterand M, Mühlematter D, Lafage-Pochitaloff M, Nguyen-Khac F, Schoch C, Slovak ML, Smith A, Sole F, Van Roy N, Johansson B, Rocchi M (2006) MYC-containing double minutes in hematologic malignancies: evidence in favour of the episome model and exclusion of MYC as the target gene. Hum Mol Genet 15: 933–942

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  21. 21.

    Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, Engel W (2001) ECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 68: 1093–1101

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  22. 22.

    Valent P, Horny HP, Bennett JM, Fonatsch C, Germing U, Greenberg P, Haferlach T, Haase D, Kolb HJ, Krieger O, Loken M, Loosdrecht A van de, Ogata K, Orfao A, Pfeilstöcker M, Ruter B, Sperr WR, Stauder R, Wells DA (in press) Definitions and standards in the diagnosis and treatment of the myelodysplastic syndromes: consensus statements and report from a working conference. Leuk Res Jan 24 (E-pub ahead of print)

  23. 23.

    Vinatzer U, Mannhalter C, Mitterbauer M, Gruener H, Greinix H, Schmidt H, Fonatsch C, Wieser R (2003) Quantitative comparison of the expression of EVI1 and its presumptive antagonist, MDS1/EVI1, in patients with myeloid leukemia. Gen Chrom Cancer 36: 80–89

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  24. 24.

    Wieser R (2005) Zystische Fibrose (Mukoviszidose) – die häufigste lebensverkürzende autosomal rezessive Erbkrankheit. Wien Med Wochenschr 155: 268–272

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  25. 25.

    Wieser R, Schreiner U, Rieder H, Pirc-Danoewinata H, Grüner H, Loncarevic IF, Fonatsch C (2003) Interphase FISH assay for the detection of rearrangements of the EVI-1 locus in chromosome band 3q26 in myeloid malignancies. Haematologica 88: 25–30

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  26. 26.

    Wieser R, Fritz B, Ullmann R, Müller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H (2005) Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome phenotype and rhabdoid tumor of the kidney. Hum Mutat 26: 78–83

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  27. 27.

    Wimmer K, Eckart M, Meyer-Puttlitz B, Fonatsch C, Pietsch T (2002) Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas. J Neuropathol Exp Neurol 61: 896–902

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  28. 28.

    Wimmer K, Xiao-Xiang Z, Rouillard JM, Ambros PF, Lamb BJ, Kuick R, Eckart M, Weinhäusl A, Fonatsch C, Hanash SM (2002) Combined restriction landmark genomic scanning and virtual genome scans identify a novel human homeobox gene, ALX3, that is hypermethylated in neuroblastoma. Gen Chrom Cancer 33: 285–294

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  29. 29.

    Wimmer K, Roca X, Beiglbock H, Callens T, Etzler J, Rao AR, Krainer AR, Fonatsch C, Messiaen L (2007) Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5‘ splice-site disruption. Hum Mutat 28: 599–612

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  30. 30.

    Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer AR, Wimmer K ( (2004) Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. Hum Mutat 24: 491–501

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  31. 31.

    Zatkova A, Rouillard JM, Hartmann W, Lamb BJ, Kuick R, Eckart M, Schweinitz D von, Koch A, Fonatsch C, Pietsch T, Hanash SM, Wimmer K (2004) Ampflification and overexpression of the IGF2 regulator PLAG1 in hepatoblastoma. Genes Chromosomes Cancer 39: 126–137

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  32. 32.

    Zatkova A, Ullmann R, Rouillard JM, Lamb BJ, Kuick R,. Hanash SM, Schnittger S, Schoch C, Fonatsch C, Wimmer K (2004) Distinct sequences on 11q13.5 and 11q23–24 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients. Genes Chromosomes Cancer 39: 263–276

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  33. 33.

    Zatkova A, Schoch C, Speleman F, Poppe B, Mannhalter C, Fonatsch C, Wimmer K ( (2006) GAB2 is a novel target of 11q amplification in AML/MDS. Genes Chromosomes Cancer 45: 798–807

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  34. 34.

    Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer F, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslander R, Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Winterpacht A, Kwon YT, Varshavsky A, Reis A (2005) Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet 37: 1345–1350

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  35. 35.

    Zoll B, Petersen L, Lange K, Gabriel P, Kiese-Himmel C, Rausch P, Berger J, Pasche B, Meins M, Gross M, Berger R, Kruse E, Kunz J, Sperling K, Laccone F (2003) Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and −493del10. Hum Mutat 21: 98

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Additional information

Als Autoren wirkten an diesem Artikel mit: Christa Fonatsch in Zusammenarbeit mit Franco Laccone, Jürgen Neesen, Helga Rehder, Rotraud Wieser und Katharina Wimmer.

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Department für Medizinische Genetik an der Medizinischen Universität Wien. medgen 19, 250–254 (2007). https://doi.org/10.1007/s11825-007-0017-3

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