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Page 1
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H; ECE-Consortium; Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V; ECE-Consortium. Bento C, et al. Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22. Hum Mutat. 2014. PMID: 24115288
A potential antiviral against COVID-19 obtained from Byrsonima coccolobifolia leaves extract.
Rodrigues CM, Bento CC, Moraes CB, Gomes C, Ioshino RS, Freitas-Junior LH, de Castro Spadari C, Ishida K, Vilegas W, Carvalho JCS, Ferreira MJP, Carbone V, Piacente S, Molina de Angelo R, Honorio KM, Sannomiya M. Rodrigues CM, et al. Among authors: bento cc. Fitoterapia. 2024 Mar;173:105820. doi: 10.1016/j.fitote.2024.105820. Epub 2024 Jan 9. Fitoterapia. 2024. PMID: 38211642
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: bento c. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Submitting Novel Globin Gene Variants to Hemoglobin.
Harteveld CL, Patrinos GP, Traeger-Synodinos J, Kountouris P, Bento C, Adekile A. Harteveld CL, et al. Among authors: bento c. Hemoglobin. 2023 Nov;47(4):135-136. doi: 10.1080/03630269.2023.2258618. Epub 2023 Nov 3. Hemoglobin. 2023. PMID: 37920883 No abstract available.
254 results