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

Bruder, Carl E. G. (författare)
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
Hirvelä, Carina (författare)
Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, Uppsala, Sweden
Tapia-Paez, Isabel (författare)
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
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Fransson, Ingegerd (författare)
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
Segraves, Richard (författare)
Department of Laboratory Medicine, UCSF Cancer Center, San Fancisco, USA
Hamilton, Greg (författare)
Department of Laboratory Medicine, UCSF Cancer Center, San Fancisco, USA
Zhang, Xiao Xiao (författare)
Department of Laboratory Medicine, UCSF Cancer Center, San Fancisco, USA
Evans, D. Gareth (författare)
Department of Medical Genetics, St Mary Hospital, Manchester, UK
Wallace, Andrew J. (författare)
Department of Medical Genetics, St Mary Hospital, Manchester, UK
Baser, Michael E. (författare)
Los Angeles, USA
Zucman-Rossi, Jessica (författare)
Laboratorie de Geneticque des Tumeurs, Paris, France
Hergersberg, Martin (författare)
Institute of Medical Genetics, University of Zürich, Zürich, Switzerland
Boltshauser, Eugene (författare)
Division of Pediatric Neurology, Children Hospital, Zürich, Switzerland
Papi, Laura (författare)
Medical Genetics Unit, Department of Physiopathology, University of Florence, Florence, Italy
Rouleau, Guy A. (författare)
Centre for Research in Neuroscience, Montreal General Hospital, Quebec, Canada
Poptodorov, George (författare)
Department of Neurosurgery, University Hospital, Sofia, Bulgaria
Jordanova, Albena (författare)
Laboratory of Molecular Pathology, Sofia, Bulgaria
Rask-Andersen, Helge (författare)
Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, Uppsala, Sweden
Kluwe, Lan (författare)
Department of Neurology, Klinikum Nord Ochenzoll, Hamburg, Germany
Mautner, Victor (författare)
Department of Neurology, Klinikum Nord Ochenzoll, Hamburg, Germany
Sainio, Markku (författare)
Department of Pathology, University of Helsinki, Haartman Institute, Helsinki, Finland
Hung, Gene (författare)
House Ear Institute, Los Angeles, USA
Mathiesen, Tiit (författare)
Department of Neurosurgery, Karolinska Hospital, Stockholm, Sweden
Möller, Claes, 1950- (författare)
Department of Audiology, Sahlgrenska University Hospital, Göteborg, Sweden
Pulst, Stefan M. (författare)
Division of Neurology, Cedars-Sinai Medical Center, Los Angeles USA
Harder, Henrik (författare)
Department of Otorhinolaryngology, Linköping University Hospital, Linköping, Sweden
Heiberg, Arvid (författare)
Department of Medical Genetics, Rikshospitalet, Oslo, Norway
Honda, Mariko (författare)
Department of Dermatology, The Jikei University School of Medicine, Tokyo, Japan
Niimura, Michihito (författare)
Department of Dermatology, The Jikei University School of Medicine, Tokyo, Japan
Sahlén, Sigrid (författare)
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
Blennow, Elisabeth (författare)
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
Albertson, Donna G. (författare)
Cancer Research Institute, UCSF Cancer Center, San Francisco, USA
Pinkel, David (författare)
Department of Laboratory Medicine, UCSF Cancer Center, San Fancisco, USA
Dumanski, Jan P. (författare)
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden; Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, Uppsala, Sweden
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 (creator_code:org_t)
Oxford, United Kingdom : Oxford University Press, 2001
2001
Engelska.
Ingår i: Human Molecular Genetics. - Oxford, United Kingdom : Oxford University Press. - 0964-6906 .- 1460-2083. ; 10:3, s. 271-282
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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-CON methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.

Ämnesord

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine (hsv//eng)

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