Sökning: "chromosome translocation"

Visar resultat 16 - 20 av 46 avhandlingar innehållade orden chromosome translocation.

1. 16. Synovial sarcoma : a Scandinavian sarcoma group project

   Författare :Björn Skytting; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :synovial sarcoma; prognosis; tumor size; poorly differentiated; histologic grading; Ki-67; proliferation; CGH; secondary aberrations; RT-PCR; translocation; SYT-SSX1 SYT-SSX2;

   Sammanfattning : Synovial sarcoma accounts for 5 to 10 % of all soft tissue sarcomas. More than 90 % are found in the extremities or trunk wall. Characteristic for synovial sarcoma is the translocation t(X; 18) (p11.2;q11. LÄS MER

3. 17. Molecular genetics of kidney cancer : chromosomal regions of importance in the development of renal cell carcinoma

   Författare :Rikard Erlandsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Carcinoma; renal cell Chromosomes; human; pair 3 Chromosome deletion Genes; suppressor; tumor Sequence analysis; DNA. Renal cell carcinoma RCC is a malignancy of the human kidney; occurring most commonlyduring the seventh and eighth decades of;

   Sammanfattning : Renal cell carcinoma (RCC) is a malignancy of the human kidney, occurring most commonly during the seventh and eighth decades of life. The incidence is high in the Nordic countries and the five year survival is 40-50%. Smoking is a risk factor inferring a minor increase in risk. The best established risk factor is obesity. LÄS MER

4. 18. Approaches for the localization and identification of human cancer genes

   Författare :Wong-Onn Lui; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :CGH; FISH; SKY; karyotyping; SNP array; expression array; VHL-associated pheochromocytomas; hemangioblastomas; familial renal cell carcinoma; constitutional translocation; sporadic follicular thyroid tumors; chromosomal alterations; fusion oncogene; FTCF-PPAR gamma l; PAX8-PPAR gamma l.;

   Sammanfattning : Chromosomal aberrations have been recognized as important observations that underpin the concept of a mutator phenotype in cancer. In this thesis, two basic strategies were applied to map the location of cancer-related genes in several types of cancers. LÄS MER

5. 19. Genetic studies in early embryos with emphasis on preimplantation genetic diagnosis

   Författare :Erik Iwarsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :chromosomal abnormality 1 embryo fluorescent in situ hybridisation FISH 1 in vitro fertilisation IVF 1 preimplantation genetic diagnosis PGD ;

   Sammanfattning : It has been estimated that as much as 70-80% of all human conceptions do not develop to term. A majority of clinically recognisable pregnancies, which are miscarried, contain chromosome abnormalities. However, data from very early embryo development are difficult to obtain. LÄS MER

7. 20. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

   Författare :Mahmoud R. Mansouri; Niklas Dahl; Hans Van Bokhoven; Uppsala universitet; []
   Nyckelord :Genetics; Chromosomal abnormalities; Mental retardation; Hypospadias and anal malformation; Premature ovarian failure; Autism; Array-CGH; ZDHHC15; Genetik;

   Sammanfattning : Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. LÄS MER