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Page 1
New records and detailed distribution and abundance of selected arthropod species collected between 1999 and 2011 in Azorean native forests.
Borges PA, Gaspar C, Crespo LC, Rigal F, Cardoso P, Pereira F, Rego C, Amorim IR, Melo C, Aguiar C, André G, Mendonça EP, Ribeiro S, Hortal J, Santos AM, Barcelos L, Enghoff H, Mahnert V, Pita MT, Ribes J, Baz A, Sousa AB, Vieira V, Wunderlich J, Parmakelis A, Whittaker RJ, Quartau JA, Serrano AR, Triantis KA. Borges PA, et al. Among authors: sousa ab. Biodivers Data J. 2016 Dec 22;(4):e10948. doi: 10.3897/BDJ.4.e10948. eCollection 2016. Biodivers Data J. 2016. PMID: 28174509 Free PMC article.
Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.
Lima BA, Pais AC, Dupont J, Dias P, Custódio N, Sousa AB, Carmo-Fonseca M, Carvalho C. Lima BA, et al. Among authors: sousa ab. Life Sci Alliance. 2024 Dec 31;8(3):e202402845. doi: 10.26508/lsa.202402845. Print 2025 Mar. Life Sci Alliance. 2024. PMID: 39741007 Free PMC article.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger JE, Audo I, Robert MP, David P, Jung V, Goudin N, Guerrera IC, Moriceau S, Amana D, Assia Batzir N, Bachar-Zipori A, Basel Salmon L, Boddaert N, Briault S, Bruel AL, Costet-Fighiera C, Coutinho Santos L, Gitiaux C, Kaminska K, Kuentz P, Orenstein N, Philip-Sarles N, Plutino M, Quinodoz M, Santos C, Sigaudy S, Soeiro E Sá M, Sofrin E, Sousa AB, Sousa-Luis R, Thauvin-Robinet C, van Dijk EL, Zaafrane-Khachnaoui K, Zur D, Kaplan J, Rivolta C, Rozet JM, Perrault I. Zanetti A, et al. Among authors: sousa ab. Nat Commun. 2024 Nov 21;15(1):10096. doi: 10.1038/s41467-024-54549-8. Nat Commun. 2024. PMID: 39572588 Free PMC article.
Dual modification of starch: Synergistic effects of ozonation and pulsed electric fields on structural, rheological, and functional attributes.
Almeida RLJ, Santos NC, de Brito ACO, Leite ACN, Morais JRF, de Oliveira BF, da Silva PB, da Silva YTF, da Silva Freitas RV, do Bonfim KS, de Sousa ABB, de Figueiredo MJ, da Costa GA, de Assis Cavalcante J, Dos Santos Pereira T. Almeida RLJ, et al. Among authors: de sousa abb. Food Chem. 2025 Feb 1;464(Pt 2):141718. doi: 10.1016/j.foodchem.2024.141718. Epub 2024 Oct 19. Food Chem. 2025. PMID: 39447264
Wastewater-based surveillance for Hepatitis A virus, Enterovirus, Poliovirus, and SARS-CoV-2 in São Tomé and Príncipe: A pilot study.
Toancha K, Borges A, Lázaro L, Teixeira N, Lima AK, Gonçalves A, Winter D, Santos A, do Nascimento M, de Sousa AB, May J, Sequeira YS, Neto RMA, Fernandez-Cassi X, Schuldt K. Toancha K, et al. Among authors: de sousa ab. Sci Total Environ. 2024 Dec 10;955:176923. doi: 10.1016/j.scitotenv.2024.176923. Epub 2024 Oct 18. Sci Total Environ. 2024. PMID: 39427898 Free article.
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.
Iglesias-Romero AB, Kaminska K, Quinodoz M, Folcher M, Lin S, Arno G, Calado J, Webster AR, Moulin A, Sousa AB, Coutinho-Santos L, Santos C, Rivolta C. Iglesias-Romero AB, et al. Among authors: sousa ab. Am J Hum Genet. 2024 Oct 3;111(10):2299-2306. doi: 10.1016/j.ajhg.2024.08.005. Epub 2024 Sep 2. Am J Hum Genet. 2024. PMID: 39226897 Free PMC article.
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. Malka S, et al. Among authors: sousa ab. Am J Hum Genet. 2024 Sep 5;111(9):2012-2030. doi: 10.1016/j.ajhg.2024.07.020. Epub 2024 Aug 26. Am J Hum Genet. 2024. PMID: 39191256 Free PMC article.
127 results