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Id: biblio-1055406
Autor: Department of BotanyPrajapati, Rajesh; Department of BotanyYadav, Shivam; Department of BotanyMitra, Sonali; Department of BotanyRai, Priya; Department of BotanyMishra, Rajeev; Department of BotanyAtri, Neelam.
Título: Genome-Wide Assessment of Putative Superoxide Dismutases in Unicellular and Filamentous Cyanobacteria
Fonte: Braz. arch. biol. technol;62:e19170747, 2019. tab, graf.
Idioma: en.
Resumo: Abstract Cyanobacteria are photoautotrophic prokaryotes capable to grow in diverse ecological habitats, originated 2.5-3.5 billion years ago and were first to produce oxygen. Since then superoxide dismutases (SOD) acquired great significance due to their ability to catalyze detoxification of byproducts of oxygenic photosynthesis i.e. superoxide radicals. In the present study, we extracted information regarding SODs from species of sequenced cyanobacteria and investigated their diversity, conservation, domain structure, and evolution. 144 putative SOD homologs were identified. Unlike other protein families (ex. serine-threonine kinases) SODs are present in all cyanobacterial species reflecting their significant role in survival. However, their distribution varies fewer (0.01%-0.09%) found in unicellular marine strains whereas abundant (0.02%-0.07%) in filamentous nitrogen-fixing cyanobacteria. They were classified into three major subfamilies according to their domain structures: Fe/MnSOD, Cu/ZnSOD and NiSOD. Interestingly, they lack additional domains as found in proteins of other families however motifs and invariant amino acids typical in eukaryotic SODs were conserved well in these proteins indicating similar catalytic mechanism as eukaryotic SODs. Phylogenetic relationships correspond well with phylogenies based on 16S rRNA and clustering occurs on the basis of structural characteristics such as domain organization. Gene gain-and-loss is insignificant during SOD evolution as evidenced by the absence of additional domain. This study has not only examined an overall background of sequence-structure-function interactions for the SOD gene family but also revealed variation among SOD distribution based on ecophysiological and morphological characters.
Descritores: Superóxido Dismutase
Superóxidos
-Filogenia
Genômica
Tipo de Publ: Estudo de Avaliação
Responsável: BR1.1 - BIREME


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Id: lil-702990
Autor: Genis-Mendoza, Alma D; Tovilla-Zarate, Carlos Alfonso; Nicolini, Humberto.
Título: Avances en genómica de los trastornos de la conducta alimentaria / Genomic Advances in Eating Behavior Disorders
Fonte: Rev. colomb. psiquiatr;42(4):350-355, oct.-dic. 2013. ilus, tab.
Idioma: es.
Resumo: Resumen Los trastornos de la conducta alimentaria son un problema de salud pública. La etiología de la enfermedad es desconocida, pero se sugiere que tiene una base psiquiátrica, química y biológica. El objetivo de esta revisión es presentar evidencias de cómo la investigación genómica ha contribuido en el estudio de los trastornos de la conducta alimentaria y muestra la intensa investigación dirigida a conocer los genes que pudieran estar participando en la etiológica de los trastornos de la conducta alimentaria.

Abstract Eating behavior disorders are a public health issue. The etiology of these types of disorders is unknown, and they may have psychiatric, chemical and biological origins. The aim of this review is to present evidence that shows the contribution of genomic research in the study of eating behavior disorders. It also shows the considerable research that has been undertaken to identify the genes that may participate in the etiology of eating behavior disorders.
Descritores: Transtornos da Alimentação e da Ingestão de Alimentos
-Imagem Corporal
Anorexia
Bulimia
Saúde Pública
Genômica
Obesidade
Limites: Humanos
Masculino
Feminino
Adolescente
Responsável: CO78 - Asociación Colombiana de Psiquiatría


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Id: biblio-1047367
Autor: Qureshi, M. Amjad; Tariq Pervez, Muhammad; Ellahi Babar, Masroor; Hussain, Tanveer; Shoaib, Muhammad; Shah Mohammad, Syed.
Título: Genomic comparisons of Rhizobium species using in silico AFLP-PCR, endonuclease restriction, and AMPylating enzymes
Fonte: Electron. j. biotechnol;34:67-75, july. 2018. graf, tab.
Idioma: en.
Resumo: Background: The whole-genome sequences of nine Rhizobium species were evaluated using different in silico molecular techniques such as AFLP-PCR, restriction digest, and AMPylating enzymes. The entire genome sequences were aligned with progressiveMauve and visualized by reconstructing phylogenetic tree using NTSYS pc 2.11X. The "insilico.ehu.es" was used to carry out in silico AFLP-PCR and in silico restriction digest of the selected genomes. Post-translational modification (PTM) and AMPylating enzyme diversity between the proteome of Rhizobium species were determined by novPTMenzy. Results: Slight variations were observed in the phylogeny based on AFLP-PCR and PFGE and the tree based on whole genome. Results clearly demonstrated the presence of PTMs, i.e., AMPylation with the GS-ATasE (GlnE), Hydroxylation, Sulfation with their domain, and Deamidation with their specific domains (AMPylating enzymes) GS-ATasE (GlnE), Fic, and Doc (Phosphorylation); Asparagine_hydroxylase and Collagen_prolyl_lysyl_hydroxylase; Sulfotransferase; and CNF (Cytotoxic Necrotizing Factors), respectively. The results pertaining to PTMs are discussed with regard to functional diversities reported in these species. Conclusions: The phylogenetic tree based on AFLP-PCR was slightly different from restriction endonuclease- and PFGE-based trees. Different PTMs were observed in the Rhizobium species, and the most prevailing type of PTM was AMPylation with the domain GS-ATasE (GlnE). Another type of PTM was also observed, i.e., Hydroxylation and Sulfation, with the domains Asparagine_hydroxylase and Collagen_prolyl_lysyl_hydroxylase and Sulfotransferase, respectively. The deamidation type of PTM was present only in Rhizobium sp. NGR234. How to cite: Qureshi MA, Pervez MT, Babar ME, et al. Genomic comparisons of Rhizobium species using in silico AFLP-PCR, endonuclease restrictions and ampylating enzymes.
Descritores: Rhizobium/genética
-Filogenia
Rhizobium/enzimologia
Rhizobium/fisiologia
Simbiose
Simulação por Computador
Enzimas de Restrição do DNA
Reação em Cadeia da Polimerase/métodos
Análise de Sequência
Proteoma
Genômica
Análise do Polimorfismo de Comprimento de Fragmentos Amplificados
Fabaceae/microbiologia
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-1279654
Autor: Amaya M, Alejandro; Martínez S, Rodrigo; Cerón-Muñoz, Mario.
Título: Parámetros genéticos para crecimiento y reproducción en ganado Simmental mediante parentesco por pedigrí y genómico / Genetic parameters for growth and reproduction in Simmental cattle from pedigree and genomic relationship
Fonte: Rev. MVZ Córdoba;25(1):51-58, ene.-abr. 2020. tab.
Idioma: es.
Resumo: RESUMEN Objetivo. Estimar parámetros genéticos para peso a los ocho meses de edad (W8M), edad al primer parto (AFC) y primer intervalo entre partos (FCI) usando parentesco genómico y por pedigrí. Materiales y métodos. Se utilizaron 481, 3063 y 1098 registros fenotípicos para W8M, AFC y FCI, respectivamente. La información genómica estuvo compuesta por una población de 718 animales genotipados con un chip que incluyó 30106 marcadores genéticos tipo polimorfismo de nucleótido simple (SNP). Modelos univariado y bivariado fueron construidos bajo la metodología del mejor predictor lineal insesgado convencional (BLUP) y genómico en una etapa (ssGBLUP). Resultados. Las heredabilidades para W8M, AFC y FCI variaron desde 0.25 a 0.26, 0.20 a 0.22 y 0.04 a 0.08, respectivamente. Los modelos de AFC y FCI con la metodología ssGBLUP disminuyeron ligeramente el error y aumentaron la varianza genética aditiva, respectivamente. Conclusiones. La inclusión de información genómica mejora levemente la precisión de las estimaciones genéticas en esta población. Sin embargo, una población de animales genotipados más grande y con mayor conectividad genética por parentesco permitiría aumentar para los criadores el potencial de la metodología ssGBLUP en ganado Simmental de Colombia.

ABSTRACT Objective. To estimate genetic parameters for weight at eight months of age (W8M), age at first calving (AFC) and first calving interval (FCI) using pedigree and genomic relationship. Materials and methods. Phenotypic data on 481, 3063 and 1098 animals for W8M, AFC and FCI were used, respectively. The genomic information came from a population of 718 genotyped animals with a density chip of 30,106 single nucleotide polymorphism markers (SNP). Univariate and bivariate models were used under the conventional (BLUP) and single step genomic best linear unbiased predictor (ssGBLUP) methodologies. Results. The heritabilities for W8M, AFC and FCI ranged from 0.25 to 0.26, from 0.20 to 0.22 and from 0.04 to 0.08, respectively. The AFC and FCI models under ssGBLUP slightly decreased the error and increased the additive genetic variance, respectively. Conclusions. The inclusion of genomic information slightly increases the accuracy of the genetic estimates in this population. However, a larger amount of genotyped animals and with a higher genetic relationship connectivity would allow breeders to increase the potential of the ssGBLUP methodology in Colombian Simmental cattle.
Descritores: Gado
-Reprodução
Genômica
Limites: Animais
Tipo de Publ: Artigo Clássico
Responsável: CO140 - Facultad de Medicina Veterinária y Zootecnia


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Id: biblio-1100676
Autor: De Negri, Fernanda; Uziel, Daniela.
Título: O que é medicina de precisão e como ela pode impactar o setor de saúde? / Texto para Discussão (TD) 2557: O que é medicina de precisão e como ela pode impactar o setor de saúde? / Português.
Fonte: Brasília; IPEA; 2020. 59 p. ilus. (Texto para Discussão / IPEA, 2557).
Idioma: pt.
Resumo: A medicina de precisão, ou medicina personalizada, é a customização de tratamento médico com base na capacidade de classificar indivíduos em subpopulações que diferem na susceptibilidade a uma determinada doença ou na resposta a um tratamento específico. Essa nova percepção sobre a forma de diagnóstico e tratamento vem ganhando espaço, dado o envelhecimento da população e a consequente transição epidemiológica, com ganho de evidência para as doenças crônico-degenerativas. As principais tecnologias incorporadas pela literatura no conceito de medicina de precisão são testes genéticos (diagnóstico); biossensores e wearables (monitoramento); e terapias celulares e gênicas (tratamento), sendo a maioria de recente implementação ou ainda em desenvolvimento. Os benefícios individuais do uso dessas tecnologias são claros, mas ainda há desafios para seu uso coletivo, tendo em vista, principalmente, seus custos. Este texto apresenta as tecnologias de medicina de precisão já existentes e discute sua eficácia e eficiência, bem como seus impactos nos custos e nos sistemas de saúde de forma geral. Além disso, são avaliados os desafios para o seu desenvolvimento e em que medida países como o Brasil podem atuar como usuários ou produtores dessas tecnologias.

Precision medicine or personalized medicine refers to the customization of medical treatment based on the ability to classify individuals into subpopulations that differ in susceptibility to a particular disease or in response to a specific treatment. This new perception about diagnosis and treatment is growing throughout the world, given the aging of the population and the consequent epidemiological transition, with gain of evidence for chronic-degenerative diseases. The main technologies incorporated by the literature in the concept of precision medicine are genetic tests (diagnosis), biosensors and wearables (monitoring), cellular and gene therapies (treatment), most of which have been recently implemented or are still under development. Individual benefits of precision medicine are clear, but there are still challenges for their collective use, given mainly its costs. This text presents the existing technologies and discusses their effectiveness and efficiency as well as their costs and impacts on the health system. In addition, we also discuss challenges to its development and to how countries such as Brazil could play a role as users or producers of these technologies.
Descritores: Testes Genéticos
Saúde
Genômica
Medicina de Precisão
Responsável: BR1541.1 - Biblioteca
BR1541.1


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Texto completo SciELO Chile
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Id: lil-700397
Autor: Meneses, Claudio; Orellana, Ariel.
Título: Using genomics to improve fruit quality
Fonte: Biol. Res;46(4):347-352, 2013. tab.
Idioma: en.
Resumo: New fruit varieties are needed to satisfy consumers, and the industry is facing new challenges in order to respond to these demands. The emergence of genomic tools is releasing information on polymorphisms that can be utilized to expedite breeding processes in species that are difficult to breed, given the long periods of time required to get new varieties. The present review describes the current stages of the ongoing efforts that are being taken to apply these technologies to obtain varieties with improved fruit quality in species of the family Rosaceae.
Descritores: Plantas Geneticamente Modificadas
Rosaceae/genética
Frutas/genética
-Biotecnologia/métodos
Cruzamento/métodos
Genômica
Rosaceae/classificação
Rosaceae/crescimento & desenvolvimento
Frutas/crescimento & desenvolvimento
Valor Nutritivo
Tipo de Publ: Research Support, Non-U.S. Gov't
Revisão
Responsável: CL1.1 - Biblioteca Central


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Id: lil-726997
Autor: Hernández Betancourt, Jenny de la Caridad; Serrano Barrera, Orlando.
Título: La medicina personalizada, la revolución genómica y el Sistema Nacional de Salud / Customized medicine, genomic revolution and the national health care system
Fonte: Rev. cuba. salud pública;40(4), oct.-dic. 2014.
Idioma: es.
Resumo: La profundización del conocimiento de los mecanismos moleculares del proceso salud-enfermedad ha hecho que avances científicos hayan encontrado lugar en la práctica clínica, como ha ocurrido en Cuba con las células madre. Los resultados derivados de la secuenciación del genoma humano y de otras especies mejora diagnósticos y tratamientos, sin embargo, dentro del sistema sanitario cubano no abundan las aplicaciones de las tecnologías genómicas. Esta nueva medicina necesita acumular todavía evidencia acerca de su seguridad y eficacia, se requiere una estrategia propia del Ministerio de Salud Pública en relación con la evaluación de sus usos, presentes y potenciales, en beneficio de la salud de la población. Se propone, entre otras acciones, constituir un grupo de trabajo multiinstitucional e intersectorial para estudiar las dimensiones clínicas, tecnológicas, reguladoras y bioéticas de la medicina genómica. Resulta imprescindible la preparación inmediata del personal que estudia en el pregrado o ya ejerce en las ciencias médicas, pues corresponderá a ellos la introducción y la extensión de estas tecnologías en el ejercicio de su práctica profesional. De manera inmediata es posible conformar cohortes que sean representativas de la población cubana, estudiarlas y conservar sus muestras en biobancos establecidos para tales fines. La progresiva introducción de las aplicaciones en la práctica clínica de la genómica y las tecnologías relacionadas, reclama del Sistema Nacional de Salud una atención que conduzca al estudio, la evaluación y propuesta de las acciones que permitan su implementación, según las evidencias y las condiciones y necesidades del modelo cubano de atención sanitaria(AU)

Deepening into the knowledge of the molecular mechanisms of the health/disease process has made many scientific advances to find a place into the clinical practice, as is the case of stem cells therapy in Cuba. The results derived from the sequencing of the human genome, as well of other species, have had an impact in the improvement of diagnoses and therapies; however, within the Cuban national health system the applications of genomic technologies are not widespread. Despite the fact that this new medicine still needs to accumulate much more evidence supporting its safety and efficacy, it is urgent to design a customized strategy by the Cuban Ministry of Public Health towards the assessment of current and potential uses of genomic medicine for the benefit of the population's health. Among other actions, this paper submitted the proposal of the creation of a multi-institutional and intersectoral taskforce to study the clinical, technological, regulatory and bioethical dimensions of genomic medicine. It is mandatory to train both undergraduate students and staff since they will be responsible to introduce and extend such technologies in their professional practice. It is already possible to make up cohorts resembling as much as possible the Cuban population, to study them and to collect and preserve their samples in biobanks established for such purposes(AU)
Descritores: Sistemas Nacionais de Saúde
Medicina Concierge/normas
Biologia Computacional
Genômica/métodos
-Cuba
Limites: Humanos
Masculino
Feminino
Responsável: CU1.1 - Biblioteca Médica Nacional


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Texto completo SciELO Chile
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Id: biblio-838963
Autor: Kong, Yanping; Zhang, Xianbo; Zhao, Yongliang; Xue, Yanfang; Zhang, Ye.
Título: Uptake of DNA by cancer cells without a transfection reagent
Fonte: Biol. Res;50:2, 2017. graf.
Idioma: en.
Projeto: Hebei province.
Resumo: BACKGROUND: Cancer cells exhibit elevated levels of glucose uptake and may obtain pre-formed, diet-derived fatty acids from the bloodstream to boost their rapid growth; they may also use nucleic acid from their microenvironment. The study of processing nucleic acid by cancer cells will help improve the understanding of the metabolism of cancer. DNA is commonly packaged into a viral or lipid particle to be transferred into cells; this process is called transfection in laboratory. Cancer cells are known for having gene mutations and the evolving ability of endocytosis. Their uptake of DNAs might be different from normal cells; they may take in DNAs directly from the environment. In this report, we studied the uptake of DNAs in cancer cells without a transfection reagent. METHODS: A group of DNA fragments were prepared with PCR and labeled with isotope phosphorous-32 to test their uptake by Huh 7 (liver cancer) and THLE3 (normal liver cells) after incubation overnight by counting radioactivity of the cells' genomic DNA. Multiple cell lines including breast cancer and lung cancer were tested with the same method. DNA molecules were also labeled with fluorescence to test the location in the cells using a kit of "label it fluorescence in situ hybridization (FISH)" from Mirus (USA). RESULTS: The data demonstrated that hepatocellular carcinoma cells possess the ability to take in large DNA fragments directly without a transfection reagent whereas normal liver cells cannot. Huh7 and MDA-MB231 cells displayed a significantly higher Rhodamine density in the cytoplasmic phagosomes and this suggests that the mechanism of uptake of large DNA by cancer cells is likely endocytosis. The efficacy of uptake is related to the DNA's size. Some cell lines of lung cancer and breast cancer also showed similar uptake of DNA. CONCLUSIONS: In the present study, we have revealed the evidence that some cancer cells, but not nontumorigenic cells, can take DNA fragments directly from the environment without the aid of the transfecting reagent.
Descritores: DNA/metabolismo
Transfecção
Neoplasias/genética
-Neoplasias da Mama/genética
Neoplasias da Mama/patologia
alfa-Fetoproteínas/metabolismo
Linhagem Celular
Reação em Cadeia da Polimerase
Hibridização in Situ Fluorescente
Hepatócitos/metabolismo
Genômica
Linhagem Celular Tumoral
Endocitose/genética
Fragmentação do DNA
Lipídeos/farmacologia
Neoplasias Hepáticas/genética
Neoplasias Hepáticas/patologia
Neoplasias Pulmonares/genética
Neoplasias Pulmonares/patologia
Neoplasias/patologia
Limites: Humanos
Feminino
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-974940
Autor: Gameiro, Gustavo Rosa; Sinkunas, Viktor; Liguori, Gabriel Romero; Auler-Júnior, José Otavio Costa.
Título: Precision Medicine: Changing the way we think about healthcare
Fonte: Clinics;73:e723, 2018. graf.
Idioma: en.
Resumo: Health care has changed since the decline in mortality caused by infectious diseases as well as chronic and non-contagious diseases, with a direct impact on the cost of public health and individual health care. We must now transition from traditional reactive medicine based on symptoms, diagnosis and treatment to a system that targets the disease before it occurs and, if it cannot be avoided, treats the disease in a personalized manner. Precision Medicine is that new way of thinking about medicine. In this paper, we performed a thorough review of the literature to present an updated review on the subject, discussing the impact of the use of genetics and genomics in the care process as well as medical education, clinical research and ethical issues. The Precision Medicine model is expanded upon in this article to include its principles of prediction, prevention, personalization and participation. Finally, we discuss Precision Medicine in various specialty fields and how it has been implemented in developing countries and its effects on public health and medical education.
Descritores: Medicina de Precisão/métodos
-Genômica
Educação Médica
Transtornos Mentais/genética
Transtornos Mentais/prevenção & controle
Neoplasias/genética
Neoplasias/prevenção & controle
Limites: Humanos
Tipo de Publ: Revisão
Responsável: BR1.1 - BIREME


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Id: biblio-1253284
Autor: Aguilar, María José; López, Marcela Carolina; Agulla, Lucia; Lopez Morales, Hernan; Urquijo, Sebastián.
Título: Genómica Social: Relaciones entre teoría de la mente y cariotipo en mujeres con diagnóstico de Síndrome de Turner / Social Genomics: Relationships between theory of mind and karyotype in women diagnosed with Turner Syndrome
Fonte: Rev. iberoam. psicol. (En línea);12(2):69-78, 2019. tab.
Idioma: es.
Resumo: La teoría de la mente refiere a la capacidad cognitiva de atribuir mente a los demás y de predecir y comprender su comportamiento en términos de entidades mentales como creencias, deseos e intenciones. Investigaciones recientes sugieren una distinción entre una teoría de la mente afectiva y una cognitiva, asignándoles un sustrato neuroanatómico específico. El Síndrome de Turner es un trastorno genético determinado por la deleción total o parcial del cromosoma X en el sexo femenino. Dadas las características biológicas, psicológicas y sociales encontradas en estas mujeres, pueden ser consideradas como una población relevante para el estudio de la teoría de la mente según parámetros biológicos como la expresión diferencial de los genes del cromosoma X. Objetivos y métodos: los objetivos de este estudio fueron describir la teoría de la mente cognitiva y afectiva en 22 mujeres con diagnóstico de Síndrome de Turner y determinar si existen perfiles distintivos de teoría de la mente asociados al cariotipo. Resultados y discusión: Los resultados indicaron que las mujeres con diagnóstico de Síndrome de Turner presentan dificultades generales en teoría de la mente, observándose un menor rendimiento en el aspecto cognitivo de esta capacidad. Asimismo, se encontró que un mayor daño genético se encuentra relacionado a mayores dificultades en la teoría de la mente cognitiva, vinculada a zonas corticales de procesamiento no automático

Theory of mind refers to the cognitive ability to attribute mind to others, and to predict and understand their behavior in terms of mental entities such as beliefs, desires and intentions. Recent research suggests a distinction between an affective and a cognitive theory of mind, assigning a specific neuroanatomical substrate to each one. Turner Syndrome is a genetic disorder that only affects women, and it's determined by a partial or complete deletion of the X-chromosome. Given the biological, psychological and social characteristics found in these women, they can be considered as a relevant population for the study of theory of mind according to biological parameters such as differential expression of the X-chromosome genes. Aims and methods: The aims of this study were to describe cognitive and affective theory of mind in 22 women diagnosed with Turner Syndrome and to determine if there are distinctive theory of mind profiles depending on the karyotype. Results and discussion: Results indicated that women diagnosed with Turner Syndrome present general difficulties in theory of mind, showing a lower performance on the cognitive aspect of this ability. Additionally, evidence was found suggesting that a greater genetic damage is related to greater difficulties in cognitive theory of mind, which is linked to cortical areas of non-automatic processing.
Descritores: Síndrome de Turner
Cromossomos
Doenças Genéticas Inatas
-Cromossomo X
Comportamento
Genômica
Diagnóstico
Teoria da Mente
Fatores Sociológicos
Genes
Limites: Humanos
Responsável: CO666.1



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