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You searched for +publisher:"Universidade Estadual de Campinas" +contributor:("Secolin, Rodrigo"). Showing records 1 – 3 of 3 total matches.

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Universidade Estadual de Campinas

1. Araujo, Tânia Kawasaki de, 1985-. Utilização da técnica de Open Array para investigação de genes associados a fendas labiopalatais em amostra da população brasileira: Association study between genes and cleft lip and palate in Brazilian population using the openarray technique.

Degree: 2015, Universidade Estadual de Campinas

Abstract: Nonsyndromic cleft lip and palate (NSCLP) is the most common craniofacial birth defect. The aim of this study was to evaluate associations between 39 genes and the etiology of NSCLP in a Brazilian population. This case-control association study was designed with 81.29% statistical power according to logistic regression. The case group was composed of 182 patients with NSCLP enrolled in the Brazilian Database on Orofacial Clefts. The controls included 355 healthy individuals with no history of oral clefting in the past three generations. All samples were genotyped by TaqMan®OpenArrayTM system for 253 single nucleotide polymorphisms (SNPs) in 39 genes, including two that had recently been associated with this process. The SNPs selection was made by SNPbrowser 4.0 (Applied Biosystems) in order to establish the best SNPs to explor the association between each gene and NSCLP. The association analysis was performed using logistic regression and stepwise regression. The results were corrected for multiple testing (Bonferroni correction). Twenty-four SNPs in 16 genes were significantly associated with the etiology of NSCLP, including MSX1, SPRY1, MSX2, PRSS35, TFAP2A, SHH, VAX1, TBX10, WNT11, PAX9, BMP4, JAG2, AXIN2, DVL2, KIF7 and TCBE3. Stepwise regression analysis revealed that 11 genes contributed to 15.5% of the phenotype of NSCLP in the sample. This is the first study to associate KIF7 and TCEB3 with NSCLP Advisors/Committee Members: UNIVERSIDADE ESTADUAL DE CAMPINAS (CRUESP), Lopes, Vera Lúcia Gil da Silva, 1967- (advisor), Secolin, Rodrigo (coadvisor), Universidade Estadual de Campinas. Faculdade de Ciências Médicas (institution), Programa de Pós-Graduação em Ciências Médicas (nameofprogram), Neves, Lucimara Teixeira das (committee member), Bicudo, Lucilene Arilho Ribeiro (committee member), Melo, Mônica Barbosa de (committee member), Morelli, Claudia Vianna Maurer (committee member).

Subjects/Keywords: Fenda labial; Fenda palatina; Estudos de casos e controles; Gene KIF7; Gene TCEB3; Cleft lip; Cleft palate; Case-control studies; Genes, KIF7; Genes, TCEB3

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Araujo, Tânia Kawasaki de, 1. (2015). Utilização da técnica de Open Array para investigação de genes associados a fendas labiopalatais em amostra da população brasileira: Association study between genes and cleft lip and palate in Brazilian population using the openarray technique. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/313118

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Araujo, Tânia Kawasaki de, 1985-. “Utilização da técnica de Open Array para investigação de genes associados a fendas labiopalatais em amostra da população brasileira: Association study between genes and cleft lip and palate in Brazilian population using the openarray technique.” 2015. Thesis, Universidade Estadual de Campinas. Accessed October 20, 2020. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313118.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Araujo, Tânia Kawasaki de, 1985-. “Utilização da técnica de Open Array para investigação de genes associados a fendas labiopalatais em amostra da população brasileira: Association study between genes and cleft lip and palate in Brazilian population using the openarray technique.” 2015. Web. 20 Oct 2020.

Vancouver:

Araujo, Tânia Kawasaki de 1. Utilização da técnica de Open Array para investigação de genes associados a fendas labiopalatais em amostra da população brasileira: Association study between genes and cleft lip and palate in Brazilian population using the openarray technique. [Internet] [Thesis]. Universidade Estadual de Campinas; 2015. [cited 2020 Oct 20]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/313118.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Araujo, Tânia Kawasaki de 1. Utilização da técnica de Open Array para investigação de genes associados a fendas labiopalatais em amostra da população brasileira: Association study between genes and cleft lip and palate in Brazilian population using the openarray technique. [Thesis]. Universidade Estadual de Campinas; 2015. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/313118

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Universidade Estadual de Campinas

2. Gonçalves, Claudia Estela, 1970-. Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia.

Degree: 2014, Universidade Estadual de Campinas

Abstract: The Fanconi Anemia (FA) is a genetic disorder characterized by multiple congenital and hematological abnormalities and predisposition to a variety of tumors. The worldwide incidence of AF is approximately three per million and the frequency of heterozygotes is estimated at one in 300 in Europe and the United States. It is a disease caused by mutations in genes involved in the repair system. So far have been described 16 genes that may be mutated. They are: FANCA , FANCB , FANCC , FNCD1 , FANCD2 , FANCE , FANCF , FANCG , FANCI , FANCJ , FANCL , FANCM , FANCN , FANCO , FANCP And PANCQ . The most common groups are the FANCA and FANCC. However due to this genetic heterogeneity, molecular diagnosis of this change is complex. In order to test a diagnostic strategy, the present study aimed to identify the most frequent mutations in the FANC gene by PCR and restriction enzyme digestion and investigate mutations in the FANCA gene, using the polymerase chain reaction followed by enzymatic digestion of the mutation Brazilian and subsequent sequencing of the 43 exons in 60 patients with Fanconi Anemia positive DEB. 19 patients (27.94%) were detected as group C and 16 patients as group A (23.53%). The ?3788 - 3790 mutation in the FANCA gene had an allelic frequency of 15.4%. Three intronic mutations, one synonymous mutation and one mutation changed direction in FANCA gene were found. No correlation with hematologic, renal, low weight manifestations of congenital malformations members, butches and skin pigmentation, age and sex were found Advisors/Committee Members: UNIVERSIDADE ESTADUAL DE CAMPINAS (CRUESP), Bertuzzo, Carmen Sílvia, 1963- (advisor), Universidade Estadual de Campinas. Faculdade de Ciências Médicas (institution), Programa de Pós-Graduação em Clínica Médica (nameofprogram), Soma, Mithitaka (committee member), Secolin, Rodrigo (committee member), Ribeiro, Antonio Fernando (committee member), Oliveira, Camila Andrea de (committee member).

Subjects/Keywords: Anemia de Fanconi; Neoplasias; Genótipo; Síndromes mielodisplásicas; Mutação; Instabilidade cromossomica; Fanconi anemia; Neoplasms; Genotype; Myelodysplastic syndromes; Mutation; Chromosomal instability

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Gonçalves, Claudia Estela, 1. (2014). Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/308602

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Gonçalves, Claudia Estela, 1970-. “Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia.” 2014. Thesis, Universidade Estadual de Campinas. Accessed October 20, 2020. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308602.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Gonçalves, Claudia Estela, 1970-. “Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia.” 2014. Web. 20 Oct 2020.

Vancouver:

Gonçalves, Claudia Estela 1. Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia. [Internet] [Thesis]. Universidade Estadual de Campinas; 2014. [cited 2020 Oct 20]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/308602.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Gonçalves, Claudia Estela 1. Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia. [Thesis]. Universidade Estadual de Campinas; 2014. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/308602

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

3. Kanazawa, Thatiane Yoshie, 1988-. Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing.

Degree: 2018, Universidade Estadual de Campinas

Abstract: The osteochondrodysplasias (OCD) are genetic diseases that affect the growth and development of the chondro-osseous tissue leading to short stature, and body disproportion in several individuals, and contribute to the infant morbimortality. Around one-third of these conditions are lethal in the perinatal period, being thanatophoric dysplasia (TD) and lethal osteogenesis imperfecta (OI) the most frequent lethal-OCD. Some OCD in this group are extremely rare, present great clinical-radiological variability and used to be etiologically heterogeneous. Epidemiological information regarding the lethal-OCD is limited and outdated. The aim of this study was to perform a descriptive clinical-epidemiological study based on a local series of cases collected over 26 years. In addition, this study aimed to investigate the molecular bases of two fetuses with a novel phenotype by the whole exome sequencing (WES). The clinical data related to birth, prenatal, family, and clinical-radiological and molecular diagnoses were computed in a spreadsheet and analyzed descriptively. DNA samples from the two fetuses with the novel phenotype were submitted to the exome analysis with the trio approach for both families. In the period 1990 - 2016, a total of 131 fetuses with lethal-OCD evaluated and included in the present study. Among the patients born locally, the high prevalence [9.4 (CI = 7.40-11.79) per 10,000 births] found can be attributed to the bias of reference hospital. Prenatal diagnosis of skeletal dysplasia was performed in 80 cases (61.1%), however, this examination is still very imprecise regarding to reach the specific type of OCD. The high parental consanguinity rate (9.2%) found in this series of cases is, at least partially explained, by the origin of the families from the Brazilian Northeast. The most common groups and lethal phenotypes found were: the FGFR3 group [43 (32.8%)] mainly represented by DT-I [36 (83.7%)]; the OI group [33 (25.2%)] with OI-IIA [22 (66.7%)] as the most common; and the collagenopathies type 2 group [17 (13%)], being the achondrogenesis type II (ACG-II) [10 (58.8%)] the most frequent condition. Together these three groups represent 71% of the total patients. The remaining 38 cases (29%) are distributed in nine other groups. Of the total of 131 cases, 75 (57.3%) had molecular investigation, confirming the radiological diagnosis in 63 cases (84%). The analysis of the exome of the two cases with the novel phenotype was inconclusive. In conclusion, the epidemiological evaluation of the present case series shows a high prevalence of lethal OCD, but related to a bias because it is a reference hospital in the region. The main OCD found are DT-I (FGFR3 group), OI-IIA (OI group) and ACG-II (type 2 collagenopathies group). Although most cases of lethal OCD are suspected during pregnancy, prenatal diagnosis is too imprecise to identify the specific type of the OCD. The high rate of consanguinity found in the sample seems to be due to the origins of the families, most coming from the Brazilian… Advisors/Committee Members: UNIVERSIDADE ESTADUAL DE CAMPINAS (CRUESP), Cavalcanti, Denise Pontes, 1957- (advisor), Universidade Estadual de Campinas. Faculdade de Ciências Médicas (institution), Programa de Pós-Graduação em Ciências Médicas (nameofprogram), Sanseverino, Maria Teresa Vieira (committee member), Vargas, Fernando Regla (committee member), Vieira, Andre Schwambach (committee member), Secolin, Rodrigo (committee member).

Subjects/Keywords: Osteocondrodisplasias; Doenças do desenvolvimento ósseo; Epidemiologia; Osteochondrodysplasias; Bone development diseases; Epidemiology

…Network UF Unidade federativa UNICAMP Universidade Estadual de Campinas US Ultrassonografia… …realizado pelo grupo local de Displasias Esqueléticas da Universidade Estadual de Campinas (… 

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Kanazawa, Thatiane Yoshie, 1. (2018). Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/334713

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Kanazawa, Thatiane Yoshie, 1988-. “Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing.” 2018. Thesis, Universidade Estadual de Campinas. Accessed October 20, 2020. http://repositorio.unicamp.br/jspui/handle/REPOSIP/334713.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Kanazawa, Thatiane Yoshie, 1988-. “Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing.” 2018. Web. 20 Oct 2020.

Vancouver:

Kanazawa, Thatiane Yoshie 1. Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing. [Internet] [Thesis]. Universidade Estadual de Campinas; 2018. [cited 2020 Oct 20]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/334713.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Kanazawa, Thatiane Yoshie 1. Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing. [Thesis]. Universidade Estadual de Campinas; 2018. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/334713

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

.