Sökning: "Neurofibromatosis type 2"

Visar resultat 1 - 5 av 11 avhandlingar innehållade orden Neurofibromatosis type 2.

  1. 1. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors

    Författare :Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genomic microarray; Array-CGH; DNA copy number variation; Neurofibromatosis type-2; Schwannomatosis; Schwannoma; Meningioma; NF2; Chromosome 22; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. LÄS MER

  3. 2. Analysis of Genetic Alterations in Patients Affected with Neurofibromatosis Type 2 and its Associated Tumors

    Författare :Caisa Marie Hansson; Jan P. Dumanski; Juha Kere; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Neurofibromatosis type 2; schwannoma; schwannomatosis; meningioma; array-CGH; chromosome 22; DNA copy number variation; methylation; Molekylärbiologi; Molecular biology; Molekylärbiologi;

    Sammanfattning : Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral vestibular schwannomas (VS). Patients affected by a severe NF2 phenotype also presents with peripheral schwannomas, meningiomas and ependymomas. The closely related disorder schwannomatosis also displays multiple schwannomas, but never VS. LÄS MER

  4. 3. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

    Författare :Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. LÄS MER

  5. 4. Genetic analysis of neurofibromatosis type 2 (NF2) patients and NF2-associated tumors with emphasis on chromosome 22 deletions

    Författare :Carl E G Bruder; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Neurofibromatosis type 2 (NF2) is an autosomal dominant disease with the hallmark of bilateral vestibular schwannomas. NF2 patients may also develop schwannomas at other locations as well as meningiomas, neurofibromas and ependymomas. NF2 shows a distinct clinical variability ranging from very mild to severe forms. LÄS MER

  7. 5. Experiences from Cochlear Implantation and Auditory Brainstem Implantation in Adults and Children : Electrophysiological Measurements, Hearing Outcomes and Patient Satisfaction

    Författare :Karin Lundin; Helge Rask-Andersen; Fredrik Stillesjö; Claes Möller; Uppsala universitet; []
    Nyckelord :cochlear implant; auditory brainstem implant; electrically evoked auditory brainstem responses; long deafness duration; neurofibromatosis type 2; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Cochlear implants (CIs) and auditory brainstem implants (ABIs) are prostheses for hearing used in patients with profound hearing impairment. A CI requires an operational cochlear nerve to function in contrast to an ABI. LÄS MER