Sökning: "monosomy 22"

Hittade 5 avhandlingar innehållade orden monosomy 22.

1. 1. 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

3. 2. From a candidate region to gene characterization : analysis of three new genes with respect to meningioma tumorigenesis

   Författare :Myriam Peyrard; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :meningioma; central nervous system; monosomy 22; tumor suppressor gene; ADTBI BAM22 gene; clathrin-coated vesicles; adaptin; assembly protein;

   Sammanfattning : Meningioma is a common and usually benign tumor arising from the meninges covering the central nervous system (CNS). The yearly incidence of symptomatic meningiomas is 1.2 cases per 100 000 individuals but autopsy findings reveal an occurrence ten times higher. LÄS MER

4. 3. Genetic and Epigenetic Variation in the Human Genome : Analysis of Phenotypically Normal Individuals and Patients Affected with Brain Tumors

   Författare :Cecilia De Bustos; Jan P. Dumanski; Joseph F. Costello; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; genetic variation; epigenetics; brain tumor; array-CGH; glioblastoma; ependymoma; microarray; methylation; Genetik; Genetics; Genetik;

   Sammanfattning : Genetic and epigenetic variation is a key determinant of human diversity and has an impact on disease predisposition. Single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) are the main forms of genetic variation. The challenge is to distinguish normal variations from disease-associated changes. LÄS MER

5. 4. Cytogenetic studies of primary and metastatic breast cancer

   Författare :Adewale Adeyinka; Avdelningen för klinisk genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; histokemi; cytokemi; Histologi; tissue culture; cytochemistry; histochemistry; Histology; metastases; prognosis; male breast cancer; breast cancer; trisomy 12; Cytogenetics; chromosomes; vävnadskultur; Clinical genetics; Klinisk genetik;

   Sammanfattning : A series of primary and metastatic breast carcinomas obtained from female and male patients were cytogenetically analysed. Trisomy 12 was identified as a recurrent and sometimes early event in breast carcinogenesis. LÄS MER

7. 5. Genetic characterization of non-Hodgkin lymphomas using in situ hybridization

   Författare :Svetlana Lagercrantz; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Myelodysplastic syndrome; non-Hodgkin lymphoma; fluorescencein situ hybridization; LAZ3BCL6 expression; chromosome rearrangements;

   Sammanfattning : Fluorescence in situ hybridization (FISH) has been shown to be a valuable and important technique in cytogenetics, as a complement to traditional banding analysis. This thesis focus on the characterization of chromosomal rearrangements in two hematological neoplasias, myelodysplastic syndrome (MDS) and non-Hodgkin lymphoma (NHL) using FISH. LÄS MER