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Wyświetlanie 1-15 z 15
Tytuł:
mRNA Expression and Methylation of the RAD51 , ATM , ATR , BRCA1 , and BRCA2 Genes in Gastric Adenocarcinoma.
Autorzy:
Pádua JDB; Department of Pathology and Forensic Medicine, Ribeirão Preto Medical School, Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil.
Mariano CFA; Department of Pathology and Forensic Medicine, Ribeirão Preto Medical School, Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil.
Fabro AT; Department of Pathology and Forensic Medicine, Ribeirão Preto Medical School, Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil.
Lizarte Neto FS; Department of Surgery and Anatomy, Ribeirão Preto Medical School, USP, Ribeirão Preto, SP, Brazil.
Zuliani RL; Department of Surgery and Anatomy, Ribeirão Preto Medical School, USP, Ribeirão Preto, SP, Brazil.
Sares CTG; Department of Surgery and Anatomy, Ribeirão Preto Medical School, USP, Ribeirão Preto, SP, Brazil.
Dos Santos JS; Department of Surgery and Anatomy, Ribeirão Preto Medical School, USP, Ribeirão Preto, SP, Brazil.
Sankarankutty AK; Department of Surgery and Anatomy, Ribeirão Preto Medical School, USP, Ribeirão Preto, SP, Brazil.
Tirapelli DPDC; Department of Surgery and Anatomy, Ribeirão Preto Medical School, USP, Ribeirão Preto, SP, Brazil.
Silveira VDS; Department of Genetics, Ribeirão Preto Medical School, USP, Ribeirão Preto, SP, Brazil.
de Molfetta GA; Department of Genetics, Ribeirão Preto Medical School, USP, Ribeirão Preto, SP, Brazil.
Júnior WADS; Department of Genetics, Ribeirão Preto Medical School, USP, Ribeirão Preto, SP, Brazil.
Brunaldi MO; Department of Pathology and Forensic Medicine, Ribeirão Preto Medical School, Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil.
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Źródło:
Biomarker insights [Biomark Insights] 2024 Jan 29; Vol. 19, pp. 11772719231225206. Date of Electronic Publication: 2024 Jan 29 (Print Publication: 2024).
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Autorzy:
Campanholi DRR; Pediatrics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Margutti AVB; Pediatrics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Silva WA Jr; Genetics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Ribeirão Preto Regional Center of Hematology, National Institute of Science and Technology in Cell Therapy and Cell Therapy Center, Ribeirão Preto, Brazil.; Clinical Hospital Genomic Center, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Garcia DF; Genetics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Ribeirão Preto Regional Center of Hematology, National Institute of Science and Technology in Cell Therapy and Cell Therapy Center, Ribeirão Preto, Brazil.
Molfetta GA; Ribeirão Preto Regional Center of Hematology, National Institute of Science and Technology in Cell Therapy and Cell Therapy Center, Ribeirão Preto, Brazil.; Clinical Hospital Genomic Center, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Marques AA; Ribeirão Preto Regional Center of Hematology, National Institute of Science and Technology in Cell Therapy and Cell Therapy Center, Ribeirão Preto, Brazil.
Schwartz IVD; Genetic Department, Porto Alegre Clinical Hospital, Porto Alegre, Brazil.
Cornejo V; Nutrition and Food Technology Institute, Chile University, Santiago, Chile.
Hamilton V; Nutrition and Food Technology Institute, Chile University, Santiago, Chile.
Castro G; Nutrition and Food Technology Institute, Chile University, Santiago, Chile.
Sperb-Ludwig F; Genetic Department, Rio Grande do Sul Federal University, Porto Alegre, Brazil.
Borges ES; School of Medicine, Federal University of São Carlos, São Carlos, Brazil.
Camelo JS Jr; Pediatrics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 May; Vol. 9 (5), pp. e1616. Date of Electronic Publication: 2021 May 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Maple Syrup Urine Disease/*genetics
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/genetics ; Acyltransferases/genetics ; Child ; Chile ; Dihydrolipoamide Dehydrogenase/genetics ; Genetic Testing/statistics & numerical data ; Humans ; Maple Syrup Urine Disease/pathology
Czasopismo naukowe
Tytuł:
Non-Syndromic Intellectual Disability and Its Pathways: A Long Noncoding RNA Perspective.
Autorzy:
Barros II; Department of Genetics at the Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, Monte Alegre, Ribeirão Preto, São Paulo 14049-900, Brazil.
Leão V; Department of Genetics at the Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, Monte Alegre, Ribeirão Preto, São Paulo 14049-900, Brazil.
Santis JO; Department of Genetics at the Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, Monte Alegre, Ribeirão Preto, São Paulo 14049-900, Brazil.
Rosa RCA; Department of Genetics at the Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, Monte Alegre, Ribeirão Preto, São Paulo 14049-900, Brazil.
Brotto DB; Department of Genetics at the Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, Monte Alegre, Ribeirão Preto, São Paulo 14049-900, Brazil.
Storti CB; Department of Genetics at the Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, Monte Alegre, Ribeirão Preto, São Paulo 14049-900, Brazil.
Siena ÁDD; Department of Genetics at the Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, Monte Alegre, Ribeirão Preto, São Paulo 14049-900, Brazil.
Molfetta GA; Department of Genetics at the Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, Monte Alegre, Ribeirão Preto, São Paulo 14049-900, Brazil.
Silva WA Jr; Department of Genetics at the Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, Monte Alegre, Ribeirão Preto, São Paulo 14049-900, Brazil.; National Institute of Science and Technology in Stem Cell and Cell Therapy and Center for Cell Based Therapy, Ribeirão Preto Medical School, University of São Paulo, Rua Tenente Catão Roxo, 2501, Monte Alegre, Ribeirão Preto 14051-140, Brazil.; Center for Integrative Systems Biology-CISBi, NAP/USP, Ribeirão Preto Medical School, University of São Paulo, Rua Catão Roxo, 2501, Monte Alegre, Ribeirão Preto 14051-140, Brazil.; Department of Medicine at the Midwest State University of Paraná-UNICENTRO, and Guarapuava Institute for Cancer Research, Rua Fortim Atalaia, 1900, Cidade dos Lagos, Guarapuava 85100-000, Brazil.
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Źródło:
Non-coding RNA [Noncoding RNA] 2021 Mar 11; Vol. 7 (1). Date of Electronic Publication: 2021 Mar 11.
Typ publikacji:
Journal Article; Review
Czasopismo naukowe
Tytuł:
ETV4 plays a role on the primary events during the adenoma-adenocarcinoma progression in colorectal cancer.
Autorzy:
Fonseca AS; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Av Bandeirantes, 3900, CEP: 14049-900, Monte Alegre, Ribeirão Preto, SP, Brazil. .; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil. .; Center for Integrative Systems Biology - CISBi, NAP/USP, Ribeirão Preto, SP, Brazil. .; Research Institute Pelé Pequeno Príncipe, Av Silva Jardim, 1632, CEP: 80250-060, Água Verde, Curitiba, PR, Brazil. .
Ramão A; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Av Bandeirantes, 3900, CEP: 14049-900, Monte Alegre, Ribeirão Preto, SP, Brazil.; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
Bürger MC; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
de Souza JES; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
Zanette DL; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Av Bandeirantes, 3900, CEP: 14049-900, Monte Alegre, Ribeirão Preto, SP, Brazil.; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.; Center for Integrative Systems Biology - CISBi, NAP/USP, Ribeirão Preto, SP, Brazil.; Laboratory of Applied Science and Technology in Health (LASTH), Instituto Carlos Chagas, Fundação Oswaldo Cruz, Curitiba, PR, Brazil.
de Molfetta GA; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Av Bandeirantes, 3900, CEP: 14049-900, Monte Alegre, Ribeirão Preto, SP, Brazil.; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.; Center for Integrative Systems Biology - CISBi, NAP/USP, Ribeirão Preto, SP, Brazil.
de Araújo LF; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Av Bandeirantes, 3900, CEP: 14049-900, Monte Alegre, Ribeirão Preto, SP, Brazil.; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.; Center for Integrative Systems Biology - CISBi, NAP/USP, Ribeirão Preto, SP, Brazil.
de Barros E Lima Bueno R; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Av Bandeirantes, 3900, CEP: 14049-900, Monte Alegre, Ribeirão Preto, SP, Brazil.; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
Aguiar GM; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
Plaça JR; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
Alves CP; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
Dos Santos ARD; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
Vidal DO; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
Silva GEB; Laboratory of Immunofluorescence and Electron Microscopy (LIME), Presidente Dutra University Hospital (HUUFMA), São Luís, MA, Brazil.
Panepucci RA; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
Peria FM; Departament of Medical Clinic, Medical School of Ribeirão Preto, University of São Paulo, USP, Ribeirão Preto, SP, Brazil.
Feres O; Department of Surgery and Anatomy, School of Medicine of Ribeirão Preto, University of São Paulo, Sao Paulo, Brazil.
da Rocha JJR; Department of Surgery and Anatomy, School of Medicine of Ribeirão Preto, University of São Paulo, Sao Paulo, Brazil.
Zago MA; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil.
Silva WA Jr; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Av Bandeirantes, 3900, CEP: 14049-900, Monte Alegre, Ribeirão Preto, SP, Brazil. .; Center for Cell Based Therapy and National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, SP, Brazil. .; Center for Integrative Systems Biology - CISBi, NAP/USP, Ribeirão Preto, SP, Brazil. .
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Źródło:
BMC cancer [BMC Cancer] 2021 Mar 01; Vol. 21 (1), pp. 207. Date of Electronic Publication: 2021 Mar 01.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, Neoplasm*
Adenocarcinoma/*genetics
Adenoma/*genetics
Colorectal Neoplasms/*genetics
Neoplasm Proteins/*physiology
Proto-Oncogene Proteins c-ets/*physiology
Adenocarcinoma/chemistry ; Adenocarcinoma/pathology ; Adenoma/chemistry ; Adenoma/pathology ; Aged ; Biomarkers, Tumor/genetics ; Brazil ; Cell Division/genetics ; Cell Line, Tumor ; Cell Movement/genetics ; Cell Transformation, Neoplastic/genetics ; Colorectal Neoplasms/chemistry ; Colorectal Neoplasms/pathology ; DNA, Neoplasm/genetics ; Disease Progression ; Female ; Gene Expression Regulation, Neoplastic ; Gene Ontology ; Humans ; Male ; Middle Aged ; Neoplasm Proteins/antagonists & inhibitors ; Neoplasm Proteins/genetics ; Proto-Oncogene Proteins c-ets/antagonists & inhibitors ; Proto-Oncogene Proteins c-ets/genetics ; RNA Interference ; RNA, Small Interfering/genetics ; RNA, Small Interfering/pharmacology ; Tissue Array Analysis ; Transcriptome ; Tumor Stem Cell Assay
Czasopismo naukowe
Tytuł:
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Autorzy:
Margutti AVB; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Av., 3900 - HC Criança - off D506, Ribeirão Prêto, SP, 14049-900, Brazil.
Silva WA Jr; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at Clinics Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Garcia DF; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.
de Molfetta GA; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at Clinics Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Marques AA; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.
Amorim T; Associação de Pais e Amigos dos Excepcionais of Salvador, Salvador, BA, Brazil.; Department of Life Sciences, Bahia State University, Salvador, BA, Brazil.
Prazeres VMG; Federal University of Amazonas, Manaus, AM, Brazil.
Boy da Silva RT; Department of Pediatrics, Medical Sciences School, Rio de Janeiro State University, Rio de Janeiro, RJ, Brazil.
Miura IK; Sírio-Libanês Hospital, São Paulo, SP, Brazil.
Seda Neto J; Sírio-Libanês Hospital, São Paulo, SP, Brazil.
Santos ES; Department of Medicine, Federal University of Sergipe, São Cristóvão, SE, Brazil.
Santos MLSF; Pequeno Príncipe Hospital, Curitiba, PR, Brazil.
Lourenço CM; Medical School, Estácio University Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.
Tonon T; Posgraduate Programme in Medicine - Medical Sciences, Federal University of Rio Grande Do Sul, Porto Alegre, RS, Brazil.
Sperb-Ludwig F; Department of Genetics, Federal University of Rio Grande Do Sul, Porto Alegre, RS, Brazil.; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Clinics Hospital of Porto Alegre, Porto Alegre, RS, Brazil.
de Souza CFM; Medical Genetics Service, Clinics Hospital of Porto Alegre, Department of Genetics, Federal University of Rio Grande Do Sul, Porto Alegre, RS, Brazil.
Schwartz IVD; Medical Genetics Service, Clinics Hospital of Porto Alegre, Department of Genetics, Federal University of Rio Grande Do Sul, Porto Alegre, RS, Brazil.
Camelo JS Jr; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Av., 3900 - HC Criança - off D506, Ribeirão Prêto, SP, 14049-900, Brazil. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Nov 01; Vol. 15 (1), pp. 309. Date of Electronic Publication: 2020 Nov 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Maple Syrup Urine Disease*/genetics
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/genetics ; Brazil ; Cross-Sectional Studies ; Humans ; Phenotype
Czasopismo naukowe
Tytuł:
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
Autorzy:
da Costa E Silva Carvalho S; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.; Regional Blood Center at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.
Cury NM; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Regional Blood Center at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.
Brotto DB; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Regional Blood Center at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.
de Araujo LF; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Regional Blood Center at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.
Rosa RCA; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.
Texeira LA; Division of Internal Medicine and Geriatrics, Department of Internal Medicine, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Plaça JR; Regional Blood Center at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.
Marques AA; Regional Blood Center at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.
Peronni KC; Regional Blood Center at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.
Ruy PC; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.
Molfetta GA; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.
Moriguti JC; Division of Internal Medicine and Geriatrics, Department of Internal Medicine, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Carraro DM; International Research, Center/CIPE, AC Camargo Cancer Center, Sao Paulo, SP, Brazil.
Palmero EI; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil.
Ashton-Prolla P; Laboratório de Medicina Genômica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
de Faria Ferraz VE; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil.; Department of Medical Genetics, University Hospital of the Ribeirão Preto Medical School, Ribeirão Preto, Brazil.
Silva WA Jr; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil. .; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil. .; Regional Blood Center at University Hospital of the Ribeirão Preto Medical School of University of São Paulo, Ribeirão Preto, SP, Brazil. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2020 Feb 10; Vol. 13 (1), pp. 21. Date of Electronic Publication: 2020 Feb 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Algorithms*
Computer Simulation*
Germ-Line Mutation*
INDEL Mutation*
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Neoplasm Proteins/*genetics
Adult ; Aged ; Brazil ; Female ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł:
Mitochondrial transcription factor A (TFAM) shapes metabolic and invasion gene signatures in melanoma.
Autorzy:
Araujo LF; Department of Genetics-Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil.; Medical Genomics Laboratory, CIPE, AC Camargo Cancer Center, São Paulo, Brazil.
Siena ADD; Department of Genetics-Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil.
Plaça JR; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil.
Brotto DB; Department of Genetics-Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil.
Barros II; Department of Genetics-Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil.
Muys BR; Department of Genetics-Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil.
Biagi CAO Jr; Department of Genetics-Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil.
Peronni KC; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil.
Sousa JF; Department of Genetics-Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil.
Molfetta GA; Department of Genetics-Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil.
West LC; Microbial Pathogenesis & Immunology, Health Science Center, Texas A&M University, College Station, USA.
West AP; Microbial Pathogenesis & Immunology, Health Science Center, Texas A&M University, College Station, USA.
Leopoldino AM; Department of Clinical Analysis-Toxicology and Food Sciences, School of Pharmaceutical Sciences of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
Espreafico EM; Department of Cellular and Molecular Biology-Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Silva WA Jr; Department of Genetics-Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil. .; National institute of Science and Technology in Stem Cell and Cell Therapy, Center for Cell-based Therapy-CEPID/FAPESP, Ribeirão Preto, Brazil. .; Center for Integrative System Biology-CISBi-NAP/USP, University of São Paulo, Ribeirão Preto, Brazil. .
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Źródło:
Scientific reports [Sci Rep] 2018 Sep 21; Vol. 8 (1), pp. 14190. Date of Electronic Publication: 2018 Sep 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA-Binding Proteins/*genetics
DNA-Binding Proteins/*metabolism
Gene Expression Regulation/*genetics
Melanoma/*genetics
Melanoma/*metabolism
Mitochondrial Proteins/*genetics
Mitochondrial Proteins/*metabolism
Transcription Factors/*genetics
Transcription Factors/*metabolism
Amino Acids/genetics ; Amino Acids/metabolism ; Carcinogenesis/genetics ; Cell Line, Tumor ; DNA Copy Number Variations/genetics ; DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Down-Regulation/genetics ; Glutamine/genetics ; Glutamine/metabolism ; Glycolysis/genetics ; Humans ; Mitochondria/genetics ; Mitochondria/metabolism ; Up-Regulation/genetics ; Vascular Endothelial Growth Factor A/genetics ; Vascular Endothelial Growth Factor A/metabolism
Czasopismo naukowe
Tytuł:
Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.
Autorzy:
Carvalho SDCES; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Grangeiro CHP; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Medical Genetics Service of the University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Picanço-Albuquerque CG; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Medical Genetics Service of the University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Dos Anjos TO; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
De Molfetta GA; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Silva WA Jr; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Regional Blood Center of Ribeirão Preto (FUNDHERP) of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Ferraz VEF; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil. .; Medical Genetics Service of the University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil. .; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil. .
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Źródło:
BMC research notes [BMC Res Notes] 2018 Aug 02; Vol. 11 (1), pp. 546. Date of Electronic Publication: 2018 Aug 02.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Hearing Loss, Sensorineural/*genetics
Sulfate Transporters/*genetics
Adolescent ; Adult ; Brazil ; Child ; Child, Preschool ; Connexin 26 ; Connexins ; Female ; Hearing Loss ; Humans ; Male ; Membrane Transport Proteins ; Middle Aged ; Young Adult
Czasopismo naukowe
Tytuł:
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
Autorzy:
Garcia DF; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.
Camelo JS Jr; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Molfetta GA; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at Clinical Hospital of the Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.
Turcato M; Department of Neurology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Souza CF; Department of Genetics, Clinical Hospital of the Porto Alegre, Porto Alegre, RS, Brazil.
Porta G; Department of Pediatrics, Children's Institute, Medical School of the University of São Paulo, São Paulo, SP, Brazil.
Steiner CE; Department of Medical Genetics, School of Medical Science, State University of Campinas, Campinas, SP, Brazil.
Silva WA Jr; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil. .; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil. .; Center for Medical Genomics at Clinical Hospital of the Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil. .
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Źródło:
BMC medical genetics [BMC Med Genet] 2016 May 12; Vol. 17 (1), pp. 39. Date of Electronic Publication: 2016 May 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Galactosemias/*genetics
Galactosemias/*pathology
UTP-Hexose-1-Phosphate Uridylyltransferase/*genetics
Alleles ; Base Sequence ; Brazil ; DNA/chemistry ; DNA/isolation & purification ; DNA/metabolism ; Genotype ; Humans ; Infant ; Infant, Newborn ; Polymorphism, Genetic
Czasopismo naukowe
Tytuł:
Placenta-Enriched LincRNAs MIR503HG and LINC00629 Decrease Migration and Invasion Potential of JEG-3 Cell Line.
Autorzy:
Muys BR; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Center for Cell-Based Therapy (CEPID/FAPESP), National institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Regional Blood Center of Ribeirão Preto, Riberão Preto, Brazil.; Center for Medical Genomics (HCFMRP/USP), Center for Integrative Systems Biology (CISBi-NAP/USP), Ribeirão Preto, Brazil.
Lorenzi JC; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Center for Cell-Based Therapy (CEPID/FAPESP), National institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Regional Blood Center of Ribeirão Preto, Riberão Preto, Brazil.; Center for Medical Genomics (HCFMRP/USP), Center for Integrative Systems Biology (CISBi-NAP/USP), Ribeirão Preto, Brazil.
Zanette DL; Gonçalo Moniz Research Center, Oswaldo Cruz Foundation, Bahia, Brazil.
Lima e Bueno Rde B; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Center for Cell-Based Therapy (CEPID/FAPESP), National institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Regional Blood Center of Ribeirão Preto, Riberão Preto, Brazil.; Center for Medical Genomics (HCFMRP/USP), Center for Integrative Systems Biology (CISBi-NAP/USP), Ribeirão Preto, Brazil.
de Araújo LF; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Center for Cell-Based Therapy (CEPID/FAPESP), National institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Regional Blood Center of Ribeirão Preto, Riberão Preto, Brazil.; Center for Medical Genomics (HCFMRP/USP), Center for Integrative Systems Biology (CISBi-NAP/USP), Ribeirão Preto, Brazil.
Dinarte-Santos AR; Center for Cell-Based Therapy (CEPID/FAPESP), National institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Regional Blood Center of Ribeirão Preto, Riberão Preto, Brazil.; Center for Medical Genomics (HCFMRP/USP), Center for Integrative Systems Biology (CISBi-NAP/USP), Ribeirão Preto, Brazil.
Alves CP; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Center for Cell-Based Therapy (CEPID/FAPESP), National institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Regional Blood Center of Ribeirão Preto, Riberão Preto, Brazil.; Center for Medical Genomics (HCFMRP/USP), Center for Integrative Systems Biology (CISBi-NAP/USP), Ribeirão Preto, Brazil.
Ramão A; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Center for Cell-Based Therapy (CEPID/FAPESP), National institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Regional Blood Center of Ribeirão Preto, Riberão Preto, Brazil.
de Molfetta GA; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Center for Cell-Based Therapy (CEPID/FAPESP), National institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Regional Blood Center of Ribeirão Preto, Riberão Preto, Brazil.; Center for Medical Genomics (HCFMRP/USP), Center for Integrative Systems Biology (CISBi-NAP/USP), Ribeirão Preto, Brazil.
Vidal DO; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
Silva WA Jr; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Center for Cell-Based Therapy (CEPID/FAPESP), National institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Regional Blood Center of Ribeirão Preto, Riberão Preto, Brazil.; Center for Medical Genomics (HCFMRP/USP), Center for Integrative Systems Biology (CISBi-NAP/USP), Ribeirão Preto, Brazil.
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Źródło:
PloS one [PLoS One] 2016 Mar 29; Vol. 11 (3), pp. e0151560. Date of Electronic Publication: 2016 Mar 29 (Print Publication: 2016).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell Movement/*genetics
MicroRNAs/*genetics
Placenta/*metabolism
RNA, Long Noncoding/*genetics
Azacitidine/pharmacology ; Cell Line, Tumor ; Cell Movement/drug effects ; Cell Nucleus/drug effects ; Cell Nucleus/metabolism ; Conserved Sequence/genetics ; DNA Methylation/genetics ; Evolution, Molecular ; Female ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic/drug effects ; Humans ; MicroRNAs/metabolism ; Neoplasm Invasiveness ; Nucleic Acid Conformation ; Pregnancy ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; RNA, Long Noncoding/metabolism ; Reproduction/genetics
Czasopismo naukowe
Tytuł:
1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.
Autorzy:
De Molfetta GA; Department of Genetics, Medical School of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil. />Ferreira CA
Vidal DO
Giuliani Lde R
Maldonado MJ
Silva WA Jr
Pokaż więcej
Źródło:
BMC medical genetics [BMC Med Genet] 2012 Dec 20; Vol. 13, pp. 124. Date of Electronic Publication: 2012 Dec 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Angelman Syndrome/*genetics
Ubiquitin-Protein Ligases/*genetics
Adolescent ; Base Sequence ; Child ; Chromosomes, Human, Pair 15/genetics ; Female ; Frameshift Mutation ; Genomic Imprinting ; Humans ; Male ; Mutation ; Phenotype ; Sequence Analysis, DNA ; Siblings
Czasopismo naukowe
Tytuł:
ProbFAST: Probabilistic functional analysis system tool.
Autorzy:
Silva IT; Department of Genetics, Faculty of Medicine, University of São Paulo, Ribeirão Preto, Brazil. />Vêncio RZ
Oliveira TY
Molfetta GA
Silva WA Jr
Pokaż więcej
Źródło:
BMC bioinformatics [BMC Bioinformatics] 2010 Mar 30; Vol. 11, pp. 161. Date of Electronic Publication: 2010 Mar 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Software*
Gene Expression Profiling/*methods
Genomics/*methods
Gene Expression ; Genome, Human ; Humans ; Internet ; Probability ; User-Computer Interface
Czasopismo naukowe
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