Sökning: "monosomy 22"

Hittade 4 avhandlingar innehållade orden monosomy 22.

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Caisa Marie Hansson; Uppsala universitet.; [2006]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Neurofibromatosis type 2; schwannoma; schwannomatosis; meningioma; array-CGH; chromosome 22; DNA copy number variation; methylation; Molekylärbiologi; NATURAL SCIENCES Biology Cell and molecular biology Molecular biology; NATURVETENSKAP Biologi Cell- och molekylärbiologi 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

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

    Detta är en avhandling från Stockholm : Karolinska Institutet, false

    Författare :Myriam Peyrard; Karolinska Institutet.; Karolinska Institutet.; [1998]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; 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

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Cecilia De Bustos; Uppsala universitet.; [2006]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; genetic variation; epigenetics; brain tumor; array-CGH; glioblastoma; ependymoma; microarray; methylation; Genetik; NATURAL SCIENCES Biology Cell and molecular biology Genetics; NATURVETENSKAP Biologi Cell- och molekylärbiologi 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

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

    Detta är en avhandling från Department of Clinical Genetics, Lund University

    Författare :Adewale Adeyinka; Lund University.; Lunds universitet.; [1999]
    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