• Refine Query
  • Source
  • Publication year
  • to
  • Language
  • 39
  • 9
  • 5
  • 4
  • 3
  • 3
  • 3
  • 3
  • 3
  • 3
  • Tagged with
  • 52
  • 52
  • 41
  • 21
  • 19
  • 18
  • 9
  • 9
  • 9
  • 9
  • 8
  • 8
  • 7
  • 7
  • 7
  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
21

Genetic studies of susceptibility to diabetes mellitus with emphasis on type 1 diabetes /

Holm, Pernilla, January 2003 (has links)
Diss. (sammanfattning) Stockholm : Karol. inst., 2003. / Härtill 4 uppsatser.
22

Monitoramento molecular dos transcritos BCR/ABL de pacientes com leucemia mieloide cronica em uso de imatinibe atraves da tecnica de PCR quantitativo em tempo rela (real-time) / Molecular monitoring of BCR-ABL transcripts in patients with chronic myeloid leukemia treated with imatinib using real-time PCR

Machado, Melissa Pereira 14 August 2018 (has links)
Orientadores: Katia Borgia Barbosa Pagnano, Afonso Celso Vigorito / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-14T18:14:56Z (GMT). No. of bitstreams: 1 Machado_MelissaPereira_M.pdf: 1144638 bytes, checksum: c55a80d3cce151782b16b741b0f21149 (MD5) Previous issue date: 2009 / Resumo: A leucemia mieloide crônica (LMC) e uma desordem mieloproliferativa caracterizada pela presença do cromossomo Philadelphia (Ph), resultado da fusão do gene abl e do gene bcr cujo produto e uma proteína de atividade de tirosina quinase, inibida pelo mesilato de imatinibe. O imatinibe e hoje o tratamento de primeira linha da LMC e o monitoramento molecular dos transcritos BCR-ABL e fundamental no acompanhamento dos pacientes e na detecção precoce da perda de resposta ao tratamento. O objetivo deste trabalho foi realizar a padronização do método de PCR quantitativo (RQPCR) para o monitoramento molecular dos transcritos BCR-ABL de pacientes com LMC em tratamento com imatinibe. Foram coletadas amostras de sangue periferico de pacientes com LMC para RQ-PCR ao diagnostico e a cada três meses apos o tratamento com imatinibe. Foi utilizado o método Taqman. Como gene controle foi utilizado o ABL. Foi criada uma curva standard com diluições de 108 a 103 de um plasmideo com os transcritos b3a2 e b2a2 e com ABL. As quantificações foram feitas em duplicatas, assim como a curva standard. O threshold utilizado foi de 0,05 e a eficiência foi determinada em 99%. Os resultados foram reportados como uma relação entre BCR-ABL/ABL. Para o valor de referencia basal do laboratório foram analisadas 30 amostras de pacientes ao diagnostico, e calculada a mediana, sendo esse valor 83,66%. Resposta molecular maior (RMM) foi definida como redução dos transcritos BCR-ABL em 3 log a partir do valor basal do laboratório. Os valores foram ajustados a escala internacional, usando-se um fator de conversão de 1.19. Apos a padronização do método, foram avaliados 60 pacientes com LMC, cujas amostras foram coletadas ao diagnostico e a cada 3 meses. Respostas hematológica, citogenetica maior e citogenetica completa foram obtidas em 57 (95%), 45 (75%) e 38 (63%) dos pacientes, respectivamente. Vinte e quatro de 60 pacientes atingiram a RMM (40%), numa mediana de 8,5 meses. A sobrevida global foi superior nos pacientes com RCC (100%) vs pacientes sem RCC (77%) em 48 meses. Pacientes com RCC e com RMM tiveram uma sobrevida livre de eventos superior em relação aos pacientes que não atingiram os dois tipos de reposta (100% vs 60% respectivamente) (p= 0.007). Em resumo, neste estudo demonstramos o impacto prognostico em atingir RCC e RMM e também a importância do acompanhamento molecular nos pacientes com LMC. / Abstract: Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the presence of Philadelphia chromosome (Ph), the result of bcr and abl gene fusion, which product is a protein with kinase activity, inhibited by imatinib. Imatinib is currently the first-line treatment of CML and molecular monitoring of BCRABL transcripts is essential in monitoring of patients and for the early detection of loss of response to treatment. The aim of this study was to standardize quantitative PCR (RQ-PCR) method for molecular monitoring of BCR-ABL transcripts in patients with CML treated with imatinib. Peripheral blood samples from chronic phase patients were collected for RQ-PCR at diagnosis and every three months after treatment with imatinib. Taqman method was used for RQ-PCR. A standard curve with dilutions of 108 to 103 of a plasmid with the b3a2 and b2a2 transcripts and ABL gene, used as the control gene, was constructed. The runs were made in duplicates. The threshold used was 0.05 and the efficiency was determined as 99%. The results were reported as a BCR-ABL/ABL ratio (%). For the reference value of the baseline of the laboratory 30 samples from patients at diagnosis were quantified and the median value calculated was 83.66%. Major molecular response (MMR) was considered a three log reduction from the baseline value. MMR values were adjusted to international scale, using a conversion factor of 1.19. After standardization, BCR-ABL levels of 60 CML patients in chronic phase treated with imatinib were measured at diagnosis and then every three months. Hematological, major cytogenetic and complete cytogenetic responses were achieved in 57 (95%), 45 (75%) and 38 (63%) patients, respectively. Twenty-four out of 60 patients achieved a MMR (40%), in a median time of 8.5 months. Overall survival was superior for patients with CCR (100%) versus patients with no CCR (77%) (p= 0.01) in 48 months. Patients with CCR and with MMR had a superior event free-survival (EFS) in comparison with patients with CCR and no MMR (p= 0.007). In conclusion, we could demonstrate the prognostic impact of achieving CCR and a major molecular response and also the importance of molecular monitoring in the follow-up of CML patients. / Mestrado / Ciencias Medicas / Mestre em Clinica Medica
23

Chromosome 1 abnormalities in human hepatocellular carcinoma.

January 2002 (has links)
Lam Wai-Chun. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2002. / Includes bibliographical references (leaves [64]-[73]). / Abstracts in English and Chinese. / Abstract (in English) --- p.i-ii / Abstract (in Chinese) --- p.iii -iv / Acknowledgements --- p.v / Table of contents --- p.vi -ix / List of Figures --- p.x / List of Tables --- p.x / Abbreviations --- p.xi -xii / Chapter Chapter 1 --- Introduction / Chapter 1.1 --- Hepatocellular Carcinoma (HCC) --- p.1-2 / Chapter 1.2 --- Major risk factors of HCC / Chapter (1) --- Hepatitis B Virus (HBV) --- p.2-4 / Chapter (2) --- Hepatitis C Virus (HCV) --- p.5-6 / Chapter (3) --- Cirrhosis --- p.6 / Chapter (4) --- Dietary alfatoxin B1 (AFB1) --- p.6 -7 / Chapter (5) --- Alcoholic consumption --- p.7 / Chapter (6) --- Iron overload --- p.8 / Chapter 1.3 --- Genetic aberrations in HCC --- p.8-9 / Chapter (1) --- Chromosomal loss --- p.10-13 / Chapter (2) --- Chromosomal gains --- p.13-15 / Chapter 1.4 --- roposed study --- p.15 / Chapter (1) --- Hypomethylation of heterochromatin in chromosome 1q copy number gain. --- p.16 / Chapter (2) --- ositional mapping on 1q21 - q22 by interphase cytogenetics. --- p.16-17 / Chapter Chapter 2 --- Materials and Methods / Chapter 2.1 --- Materials / Chapter 2.1.1 --- Southern Blot Analysis for Satellite DNA Hypomethylation. --- p.18-19 / Chapter 2.1.2 --- ositional Mapping by Interphase Cytogenetics. --- p.19 -24 / Chapter 2.2 --- Methods / Chapter 2.2.1 --- Southern Blot Analysis for Satellite DNA Hypomethylation / Chapter (1) --- Extraction of high molecular weight DNA --- p.25 / Chapter (2) --- DNA digestion with methyl-sensitive restriction enzyme --- p.25 -26 / Chapter (3) --- Control for the complete DNA digestion. --- p.26 / Chapter (4) --- Southern Blotting. --- p.26 -27 / Chapter 2.2.2 --- ositional Mapping by Interphase Cytogenetics / Chapter (1) --- Yeast Artificial Chromosome (YAC) --- p.28 -29 / Chapter (i) --- YAC culturing --- p.29 -30 / Chapter (ii) --- YAC DNA extraction --- p.30 -31 / Chapter (iii) --- Inter-Alu-Polymerase Chain Reaction --- p.32 -33 / Chapter (2) --- -1 derived Bacterial Artificial Chromosome (PAC) --- p.34 / Chapter (i) --- AC culturing and DNA extraction --- p.34 -35 / Chapter (3) --- FISHrobe labeling by nick translation. --- p.35 / Chapter (4) --- FISHrobereparation --- p.36 / Chapter (5) --- Dot-blot analysis. --- p.36 -37 / Chapter (6) --- Verification of the YAC andACrobes by metaphase FISH --- p.37 / Chapter (7) --- Hybridization efficiency test --- p.38 / Chapter Chapter 3 --- Southern Blot Analysis for Satellite DNA Hypomethylation / Chapter 3.1 --- Introduction --- p.39 -40 / Chapter 3.2 --- Materials and Methods / Chapter (1) --- atients --- p.41 / Chapter (2) --- Mathyl-sensitive restriction enzyme digestion. --- p.42 / Chapter (3) --- Classical satellite 2 DNArobe labeling and hybridization. --- p.42 -43 / Chapter (4) --- Membrane washing and signal detection. --- p.43 / Chapter (5) --- Signal detection and reference ratio determination. --- p.43 -44 / Chapter (6) --- Comparative Genomic Hybridization (CGH) --- p.44 -45 / Chapter 3.3 --- Results / Chapter (1) --- Heterochromatin hypomethylation and 1q12 breakpoint. --- p.45 / Chapter (2) --- Heterochromatin hypomethylation in adjacent hepatitis Infected liver tissue. --- p.46 / Chapter 3.4 --- Discussion --- p.47-51 / Chapter Chapter4 --- ositional Mapping of 1q21 - q22 by Interphase Cytogenetics / Chapter 4.1 --- Introduction --- p.52-53 / Chapter 4.2 --- Materials and Methods / Chapter (1) --- atients --- p.53 / Chapter (2) --- YAC clones --- p.53 -54 / Chapter (3) --- AC clones --- p.55 / Chapter (4) --- Formalin-fixedaraffin-embedded tissue sections pretreatment. --- p.55 / Chapter (5) --- Hybridization --- p.56 / Chapter (6) --- Signal detection --- p.56 -57 / Chapter 4.3 --- Results / Chapter (1) --- Relative copy number gain on YAC examined. --- p.57 -59 / Chapter (2) --- AC findings --- p.60 / Chapter 4.4 --- Discussion --- p.60 -63 / References
24

Genome descent in isolated populations /

Chapman, Nicola H., January 2001 (has links)
Thesis (Ph. D.)--University of Washington, 2001. / Vita. Includes bibliographical references (p. 156-158).
25

Molecular and cytogenic studies of oncogene alterations in human breast and cervical carcinomas /

Zhang, Anju, January 2002 (has links)
Diss. (sammanfattning) Stockholm : Karol. inst., 2002. / Härtill 5 uppsatser.
26

Characterization of a putative tumor suppressor region identified by the elimination test on human 3p21.3 /

Kiss, Hajnalka, January 2003 (has links)
Diss. (sammanfattning) Stockholm : Karol. inst., 2003. / Härtill 6 uppsatser.
27

A microcell hybrid based elimination test to identify human chromosome 3 regions that antagonize tumor growth /

Kholodnyuk, Irina, January 2003 (has links)
Diss. (sammanfattning) Stockholm : Karol. inst., 2003. / Härtill 6 uppsatser.
28

Genetic mapping and association analysis in multiple sclerosis /

Åkesson, Eva, January 2005 (has links)
Diss. (sammanfattning) Stockholm : Karol. inst., 2005. / Härtill 4 uppsatser.
29

Molecular genetic studies of psoriasis susceptibility in 6p21.3 /

Holm, Sofia, January 2005 (has links)
Diss. (sammanfattning) Stockholm : Karol. inst., 2005. / Härtill 4 uppsatser.
30

Involvement of evolutionarily plastic regions in cancer associated CHR3 aberrations /

Darai-Ramqvist, Eva, January 2007 (has links)
Diss. (sammanfattning) Stockholm : Karolinska institutet, 2007. / Härtill 6 uppsatser.

Page generated in 0.0354 seconds