Fulltext

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

Bruder, Carl E.G. ; Hirvelä, Carina ; Tapia-Paez, Isabel ; Fransson, Ingegerd ; Segraves, Richard ; Hamilton, Greg ; Zhang, Xiao Xiao ; Evans, D. Gareth ; Wallace, Andrew J. ; Baser, Michael E. ; Zucman-Rossi, Jessica ; Hergersberg, Martin ; Boltshauser, Eugene ; Papi, Laura ; Rouleau, Guy A. ; Poptodorov, George ; Jordanova, Albena ; Rask-Andersen, Helge ; Kluwe, Lan ; Mautner, Victor ; Sainio, Markku ; Hung, Gene ; Mathiesen, Tiit ; Möller, Claes ; Pulst, Stefan M. ; Harder, Henrik ; Heiberg, Arvid ; Honda, Mariko ; Niimura, Michihito ; Sahlén, Sigrid ; Blennow, Elisabeth ; Albertson, Donna G. ; Pinkel, Daniel ; Dumanski, Jan P.

In: Human Molecular Genetics, 2001, vol. 10, no. 3, p. 271-282

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    Titre
    • High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
    Auteur
    • Bruder, Carl E.G.. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Hirvelä, Carina. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Tapia-Paez, Isabel. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Fransson, Ingegerd. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Segraves, Richard. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Hamilton, Greg. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Zhang, Xiao Xiao. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Evans, D. Gareth. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Wallace, Andrew J.. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Baser, Michael E.. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Zucman-Rossi, Jessica. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Hergersberg, Martin. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Boltshauser, Eugene. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Papi, Laura. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Rouleau, Guy A.. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Poptodorov, George. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Jordanova, Albena. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Rask-Andersen, Helge. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Kluwe, Lan. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Mautner, Victor. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Sainio, Markku. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Hung, Gene. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Mathiesen, Tiit. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Möller, Claes. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Pulst, Stefan M.. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Harder, Henrik. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Heiberg, Arvid. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Honda, Mariko. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Niimura, Michihito. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Sahlén, Sigrid. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Blennow, Elisabeth. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Albertson, Donna G.. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Pinkel, Daniel. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    • Dumanski, Jan P.. Department of Molecular Medicine, CMM Building L8, Karolinska Hospital, SE-17176 Stockholm, Sweden, Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, SE-75185 Uppsala, Sweden, Department of Laboratory Medicine, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, 11746 Bellagio Road, 308, Los Angeles, CA 90049, USA, Laboratorie de Geneticque des Tumeurs, INSERM U434, 27 rue Juliette Dodu, F-75010 Paris, France, Institute of Medical Genetics, University of Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland, Division of Pediatric Neurology, Children Hospital, Steinweisstrasse 75, CH-8032 Zürich, Switzerland, Medical Genetics Unit, Department of Physiopathology, University of Florence, Viale Pieraccini 6, I-500139 Florence, Italy, Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada, Department of Neurosurgery, University Hospital Queen Giovanna, 8 Belo More Street, BG-1527 Sofia, Bulgaria, Laboratory of Molecular Pathology, 2 Zdrave Strasse, BG-1431, Sofia, Bulgaria, Department of Neurology, Klinikum Nord Ochsenzoll, Langenhorner Ch560, D-22419 Hamburg, Germany, Department of Pathology, University of Helsinki, Haartman Institute, FIN-00014 Helsinki, Finland, House Ear Institute, 2100 West Third Street, Los Angeles, CA 90057, USA, Department of Neurosurgery, Karolinska Hospital, Box 130, SE-17176 Stockholm, Sweden, Department of Audiology, Sahlgrenska University Hospital, SE-41335 Göteborg, Sweden, Division of Neurology, Cedars-Sinai Medical Center, 8631 West 3rd Street 1145E, Los Angeles, CA 90048, USA, Department of Otorhinolaryngology, Linköping University Hospital, SE-58185 Linköping, Sweden, Department of Medical Genetics, Piestredet 32, Rikshospitalet, 0027 Oslo, Norway, Department of Dermatology, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan, Cancer Research Institute, UCSF Cancer Center, Box 0808, UCSF, San Francisco, CA 94143-0808, USA and Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-75185 Uppsala, Sweden
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Human Molecular Genetics, 2001, vol. 10, no. 3, p. 271-282. Oxford University Press
    Autre version électronique
    Classification
    • Santé
    Identifiant OAI-PMH
    • oai:doc.rero.ch:303857
    Summary
    Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CGH methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA