Sökning: "NF2"

Visar resultat 1 - 5 av 14 avhandlingar innehållade ordet NF2.

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. Clinical and Genetic Studies of Hearing Impairment

   Författare :Carina Frykholm; Ulla Friberg; Hans-Christian Larsen; Niklas Dahl; Marie-Louise Bondeson; Lisbeth Tranebjaerg; Uppsala universitet; []
   Nyckelord :Otorhinolaryngology; NF2; array-CGH; Meniere’s disease; PIK3C2G; X-linked; progressive; hearing impairment; Otorhinolaryngologi;

   Sammanfattning : Monogenic disorders offer a possibility for studies of genetic disturbances in hearing impairment—a knowledge which could be essential for development of future treatment options. In this thesis, the underlying genetic disturbances in neurofibromatosis 2 (NF2) and familial Meniere’s disease (FMD) were evaluated, and familial X-linked hearing impairment was described from a clinical point of view. LÄS MER

4. 3. 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

5. 4. 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

7. 5. 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