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| Lara,Karlena; Consigliere,Nigmet; Pérez,Jorge; Porco,Antonietta. |
| A sample of 58 familial breast cancer patients from Venezuela were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIM no. 113705) and BRCA2 (MIM no. 600185) genes by using conformation-sensitive gel electrophoresis. Ashkenazi Jewish founder mutations were not found in any of the samples. We identified 6 (10.3%) and 4 (6.9%) patients carrying germline mutations in BRCA1 and BRCA2, respectively. Four pathogenic mutations were found in BRCA1, one is a novel mutation (c.951_952insA), while the other three had been previously reported (c.1129_1135insA, c.4603G>T and IVS20+1G>A). We also found 4 pathogenic mutations in BRCA2, two novel mutations (c.2732_2733insA and c.3870_3873delG) and two that have been... |
| Tipo: Journal article |
Palavras-chave: BRCA genes; Breast cancer; Screening mutations. |
| Ano: 2012 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602012000200003 |
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| Norris,Darren; Pitman,Nigel C.A.; Martínez Gonzalez,Jerry; Torres,Eriberto; Pinto,Fernando; Collado,Hernán; Concha,Wilberth; Thupa,Raúl; Quispe,Edwin; Pérez,Jorge; Flores del Castillo,Juan Carlos. |
| Previous studies have demonstrated that river-based surveys can provide an inexpensive source of information for neotropical zoologists, yet little information is available to inform the application of this technique for the long term monitoring of neotropical turtle species. We aimed to fill this gap by presenting an assessment of data collected during 333 river surveys over 50 months along rivers in a newly protected area in the Peruvian Amazon. A total of 14,138 basking Podocnemis unifilis Troschel, 1848 were recorded during 13,510 km of river-based surveys. We used generalized additive models (GAMs) to explore the influence of a series of abiotic and seasonal variables on the recorded abundances at two temporal scales: monthly and per trip. Our... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Basking survey; Conservation; Population monitoring; River turtles; Sighting rates. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1984-46702011000300008 |
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