Browsing by Author "Alves, C."
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- Chemical characterization of atmospheric particulate matter and source apportionment in an urban-industrial area of the Lisbon Metropolitan Area (Portugal)Publication . Gamelas ou Carla A. Gamelas, Carla; Canha, N.; Vicente, A.; Alves, C.; Kertesz, Z.; Almeida, S. M.
- Results of the GEP-ISFG collaborative study on an X-STR DecaplexPublication . Gusmão, L.; Alves, C.; Sánchez-Diz, P.; Zarrabeitia, M.T.; Abovich, M.A.; Aragón, I.; Arce, B.; Arrieta, G.; Arroyo, E.; Atmetlla, I.; Baeza, C.; Bobillo, M.C.; Cainé, Laura; Campos, R.; Caraballo, L.; Carvalho, E.; Carvalho, Mónica; Cicarelli, R.M.B.; Comas, D.; Corach, D.; Espinoza, M.; Espinheira, M.R.; Rendo, F.; García, O.; Gomes, I.; González, A.; Hernández, A.; Hidalgo, M.; Lozano, P.; Malaghini, M.; Manzanares, D.; Martínez, B.; Martins, J.A.; Maxzud, K.; Miguel, I.; Modesti, N.; Montesino, M.; Ortiz, R.; Pestano, J.J.; Pinheiro, M.F.; Prieto, L.; Raimondi, E.; Riancho, J.A.; Rodríguez, M.B.; Salgado, I.; Salgueiro, N.; Sánchez, J.J.; Silva, S.; Toscanini, U.; Vidales, C.; Vieira Da Silva, Cláudia; Villalobos, M.C.; Vullo, C.; Yurrebaso, I.; Zubillaga, A.I.; Carracedo, A.; Amorim, A.A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group with a PCR multiplex for X chromosome STRs. Markers were selected among those described as polymorphic in humans and that have been used by some laboratories in forensics. Primers and various technical methods were investigated with the aim of optimizing a multiplex for the 10 selected X-STRs. Primer mix stock solutions were sent to the laboratories that were asked to analyse two female bloodstains, taking as reference the genetic profiles from 9947A, 9948 and NA3657 samples. In this work, we report the results obtained by 30 GEP-ISFG laboratories, using this Decaplex, as well as alternative technical conditions that also produced good results.
- Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermiaPublication . Barros, A.; Teixeira, F.; Camacho, M. C.; Alves, C.Campomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The authors present the case of a boy, born at 40 weeks of gestational age, with multiple congenital anomalies and subsequently diagnosed with CD, who died at 16 months of age as a consequence of malignant hyperthermia.
- X-chromosomal STRs: Metapopulations and mutation ratesPublication . Gusmão, L.; Antão-Sousa, S.; Faustino, M.; Abovich, M.A.; Aguirre, D.; Alghafri, R.; Alves, C.; Amorim, A.; Arévalo, C.; Baldassarri, L.; Barletta-Carrillo, C.; Berardi, G.; Bobillo, C.; Borjas, L.; Braganholi, D.F.; Brehm, A.; Builes, J.J.; Cainé, Laura; Carvalho, E.F.; Carvalho, Mónica; Catelli, L.; Cicarelli, R.M.B.; Contreras, A.; Corach, D.; Di Marco, F.G.; Diederiche, M.V.; Domingues, P.; Espinoza, M.; Fernandéz, J.M.; García, M.G.; García, O.; Gaviria, A.; Gomes, I.; Grattapaglia, D.; Henao, J.; Hernandez, A.; Ibarra, A.A.; Lima, G.; Manterola, I.M.; Marrero, C.; Martins, J.A.; Mendoza, L.; Mosquera, A.; Nascimento, E.C.; Onofri, V.; Pancorbo, M.M.; Pestano, J.J.; Plaza, G.; Porto, M.J.; Posada, Y.C.; Rebelo, M.L.; Riego, E.; Rodenbusch, R.; Rodríguez, A.; Rodríguez, A.; Sanchez-Diz, P.; Santos, S.; Simão, F.; Siza Fuentes, L.M.; Sumita, D.; Tomas, C.; Toscanini, U.; Trindade-Filho, A.; Turchi, C.; Vullo, C.; Yurrebaso, I.; Pereira, V.; Pinto, N.The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10−4 (DXS7133) and 1.07x10−2 (DXS10135), being 5.2 times higher in the male (4.16 ×10−3) than in the female (8.01 ×10−4) germline.