Founder
Mostrando 13-24 de 436 artigos, teses e dissertações.
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13. How strong was the bottleneck associated to the peopling of the Americas? New insights from multilocus sequence data
Abstract In spite of many genetic studies that contributed for a deep knowledge about the peopling of the Americas, no consensus has emerged about important parameters such as the effective size of the Native Americans founder population. Previous estimates based on genomic datasets may have been biased by the use of admixed individuals from Latino populatio
Genet. Mol. Biol.. Publicado em: 2018
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14. Los Cuadernos Médico Sociales de Rosario y las revistas de la medicina social latinoamericana entre las décadas de 1970 y 1980
Abstract In the 1970s and 1980s, a series of journals were founded to disseminate ideas from Latin American social medicine in various countries across the continent, during the early stage of a movement that would later become institutionalized in Brazil under the name “collective medicine.” In this article, we look at the principal characteristics of t
Hist. cienc. saude-Manguinhos. Publicado em: 2017-10
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15. Genome-wide association study of pre-harvest sprouting resistance in Chinese wheat founder parents
Abstract Pre-harvest sprouting (PHS) is a major abiotic factor affecting grain weight and quality, and is caused by an early break in seed dormancy. Association mapping (AM) is used to detect correlations between phenotypes and genotypes based on linkage disequilibrium (LD) in wheat breeding programs. We evaluated seed dormancy in 80 Chinese wheat founder pa
Genet. Mol. Biol.. Publicado em: 10/07/2017
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16. Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect
ABSTRACT Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples f
Genet. Mol. Biol.. Publicado em: 05/06/2017
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17. O VISCONDE DE BARBACENA E O QUÍMICO JOSÉ ÁLVARES MACIEL: ENCONTRO NA CIÊNCIA E DESENCONTRO NA POLÍTICA
These two men were former natural philosophy students from the University of Coimbra. Barbacena finished in 1775 and obtained a doctorate in 1776, whereas Maciel graduated in 1785 and then did scientific and industrial work in Portugal and England. The Viscount was a founder member of the Lisbon Academy of Sciences in 1779, and its secretary for 9 years. Bot
Quím. Nova. Publicado em: 2017-06
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18. Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53
Abstract Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in the general population and in cancer-affected patients, probably as result of a founder effect. Se
Genet. Mol. Biol.. Publicado em: 03/06/2016
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19. BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome
Abstract Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible
Genet. Mol. Biol.. Publicado em: 2016-06
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20. Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation
Abstract Germline TP53 mutations are associated with Li-Fraumeni syndrome (LFS), a disease that predisposes carriers to a wide variety of early onset tumors. In southern and southeastern Brazil, a high frequency of a germline TP53 mutation, p.R337H, was diagnosed in 0,3% of the population due to a founder effect. Carriers are at risk for developing cancer bu
Genet. Mol. Biol.. Publicado em: 24/05/2016
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21. Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)
Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. The first locus for nonsyndromic autosomal recessive HL is on chromosome 13q11-22. The two genes, GJB2 and GJB6, are closely located on chromosome and are known to be co-expressed in the embryonic cochlea. Deletion mutations involving GJB6 were associated with a
Braz. arch. biol. technol.. Publicado em: 29/04/2016
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22. DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations
Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary cancer predisposition disorder. In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. The occurrence of cancer and age of disease onset are known to vary, even in patients carrying the same mutation, and several mechanisms such as genetic an
Braz J Med Biol Res. Publicado em: 28/04/2015
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23. Looking at Organizational Change Through the Construction and Reconstruction of the Underpinning Values of the Organization Through Interactions Among Stakeholders
ABSTRACT Objective: This paper attempts to understand how the stakeholders in an organization - which strives to achieve goals that are sometimes in conflict - construct and reconstruct (through their interactions) their beliefs (values related to organizational competition) and habits of action (practices). Design/methodology/approach: A qualitative sin
Rev. bras. gest. neg.. Publicado em: 2015-04
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24. Alfred Werner e Heinrich Rheinboldt: genealogia e legado científico
The centenary of Alfred Werner's Nobel Prize in Chemistry has prompted this retrospect on his important contributions for the development of stereochemistry and for the understanding of the nature of the coordination compounds. His genealogy has been described, including a discussion on the famous Jørgensen-Werner controversy. As an extension, it has also b
Quím. Nova. Publicado em: 2014-06