Search for dissertations about: "Monosomy"

Showing result 1 - 5 of 15 swedish dissertations containing the word Monosomy.

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

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

    Abstract : 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. READ MORE

  4. 2. Turner syndrome. Relation between genotype and phenotype and long-term follow-up studies

    Author : Mohamed Mostafa El-Mansoury; Göteborgs universitet; []
    Keywords : Turner syndrome; chromosome; cardiovascular disease; body balance; fracture; hearing; hypothyroidism; liver;

    Abstract : Turner syndrome (TS) is a chromosomal disorder with a prevalence of approximately 1/2 500 live female births. There is complete or partial absence of one of the two sex chromosomes, resulting in a genetic constellation of 45,X monosomy or 45,X/46,XX mosaic, respectively. READ MORE

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

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

    Abstract : 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. READ MORE

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

    Author : Adewale Adeyinka; Avdelningen för klinisk genetik; []
    Keywords : 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;

    Abstract : 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. READ MORE

  7. 5. From cytologic features to serum markers: advancing prognostication of uveal melanoma

    Author : Christina Herrspiegel; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. As surveys show, almost all patients diagnosed with UM want prognostic information. READ MORE