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Institut für Medizinische Molekulargenetik

Publications before 2004


  • Berger W (2003) [Genetic causes of retinal degeneration]. Ther Umsch 60:473-476
  • Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Beroud C, Boileau C (2003) Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 22:199-208
  • Finkeldey R, Matyas G (2003) Genetic variation of oaks ( Quercus spp.) in Switzerland. 3. Lack of impact of postglacial recolonization history on nuclear gene loci. Theor Appl Genet 106:346-352
  • Pesch K, Zeitz C, Fries JE, Munscher S, Pusch CM, Kohler K, Berger W, Wissinger B (2003) Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. Invest Ophthalmol Vis Sci 44:2260-2266
  • Zeitz C, Scherthan H, Freier S, Feil S, Suckow V, Schweiger S, Berger W (2003) NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. Invest Ophthalmol Vis Sci 44:4184-4191


  • Lenzner S, Prietz S, Feil S, Nuber UA, Ropers HH, Berger W (2002) Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells. Invest Ophthalmol Vis Sci 43:2825-2833
  • Rehm HL, Zhang DS, Brown MC, Burgess B, Halpin C, Berger W, Morton CC, Corey DP, Chen ZY (2002) Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci 22:4286-4292

Selected publications before 2002


  • Kirschner R, Erturk D, Zeitz C, Sahin S, Ramser J, Cremers FP, Ropers HH, Berger W (2001) DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements. Hum Genet 109:271-278
  • Pusch CM, Maurer J, Ramser J, Tomiuk J, Achatz H, Pesch K, Lichtner P, Apfelstedt-Sylla E, Jacobi FK, Berger W, Meindl A, Wissinger B (2001) Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity. Int J Mol Med 7:155-161
  • Schwahn U, Paland N, Techritz S, Lenzner S, Berger W (2001) Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. Hum Mol Genet 10:1177-1183
  • Sudbrak R, Wieczorek G, Nuber UA, Mann W, Kirchner R, Erdogan F, Brown CJ, Wohrle D, Sterk P, Kalscheuer VM, Berger W, Lehrach H, Ropers HH (2001) X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications. Hum Mol Genet 10:77-83
  • Tonnies H, Toliat MR, Ramel C, Pape UF, Neitzel H, Berger W, Wiedenmann B (2001) Analysis of sporadic neuroendocrine tumours of the enteropancreatic system by comparative genomic hybridisation. Gut 48:536-541


  • Jacobi FK, Broghammer M, Pesch K, Zrenner E, Berger W, Meindl A, Pusch CM (2000) Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1. Hum Genet  107:89-91
  • Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A (2000) The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet 26:324-327
  • Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA (2000) The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet 9:2095-2105


  • Kimberland ML, Divoky V, Prchal J, Schwahn U, Berger W, Kazazian HH, Jr. (1999) Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells. Hum Mol Genet  8:1557-1560
  • Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W (1999) RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet 8:1571-1578
  • Rosenberg T, Schwahn U, Feil S, Berger W (1999) Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). Ophthalmic Genet 20:161-172


  • The Retinoschisis Consortium (1998) Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum Mol Genet 7:1185-1192
  • Berger W (1998) Molecular dissection of Norrie disease. Acta Anat (Basel) 162:95-100
  • Richter M, Gottanka J, May CA, Welge-Lussen U, Berger W, Lutjen-Drecoll E (1998) Retinal vasculature changes in Norrie disease mice. Invest Ophthalmol Vis Sci 39:2450-2457
  • Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W (1998) Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet 19:327-332
  • Zaremba J, Feil S, Juszko J, Myga W, van Duijnhoven G, Berger W (1998) Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene. Ophthalmic Genet 19:157-164


  • Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A (1997) Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet 17:285-291
  • Ruether K, van de PD, Jaissle G, Berger W, Tornow RP, Zrenner E (1997) Retinoschisislike alterations in the mouse eye caused by gene targeting of the Norrie disease gene. Invest Ophthalmol Vis Sci 38:710-718
  • Toliat MR, Berger W, Ropers HH, Neuhaus P, Wiedenmann B (1997) Mutations in the MEN I gene in sporadic neuroendocrine tumours of gastroenteropancreatic system. Lancet 350:1223


  • Berger W, van de Pol D, Bachner D, Oerlemans F, Winkens H, Hameister H, Wieringa B, Hendriks W, Ropers HH (1996) An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. Hum Mol Genet 5:51-59
  • Lenders JW, Eisenhofer G, Abeling NG, Berger W, Murphy DL, Konings CH, Wagemakers LM, Kopin IJ, Karoum F, van Gennip AH, Brunner HG (1996) Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. J Clin Invest 97:1010-1019
  • Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Pol D, Platzer M, Rosenthal A, Ropers HH, Cremers FP, Berger W (1996) Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). Hum Mol Genet 5:827-833
  • Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W (1996) Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 5:1035-1041
  • Salenger PV, Hueber P, Speller PJ, van Duijnhoven G, Hoopes RR, Jr., Thakker RV, Berger W, Scheinman SJ (1996) A Pst I restriction fragment length polymorphism near the MAO locus on Xp. Ann Hum Genet 60:437


  • Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH (1992) Mutations in the candidate gene for Norrie disease. Hum Mol Genet 1:461-465
  • Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Doerner C, Monaco A, Bergen AA, Lebo R, Warburg M, Zergollern L, Lorenz B, Gal A, Bleeker-Wagemakers EM, Meitinger T (1992) Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1:199-203
  • Berger W, Meindl A, de Leeuw B, de Roos A, van de Pol TJ, Meitinger T, van der Velde-Visser SD, Achatz H, Geurts van Kessel A, Cremers FP, Ropers HH (1992) Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome. Hum Genet 90:243-246
  • Meindl A, Berger W, Meitinger T, van de Pol D, Achatz H, Dorner C, Haasemann M, Hellebrand H, Gal A, Cremers F, Ropers HH (1992) Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat Genet 2:139-143

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