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Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases. Lobitz S, et al. Among authors: bento c. Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18. Br J Haematol. 2018. PMID: 30334577 Free article.
Outcomes of pregnancy in patients with congenital erythrocytosis.
McMullin MF, Bento C, Rossi C, Rainey MG, Girodon F, Cario H. McMullin MF, et al. Among authors: bento c. Br J Haematol. 2015 Aug;170(4):586-8. doi: 10.1111/bjh.13313. Epub 2015 Mar 2. Br J Haematol. 2015. PMID: 25732921 Free article. No abstract available.
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris P, Stephanou C, Lederer CW, Traeger-Synodinos J, Bento C, Harteveld CL, Fylaktou E, Koopmann TT, Halim-Fikri H, Michailidou K, Nfonsam LE, Waye JS, Zilfalil BA, Kleanthous M; ClinGen Hemoglobinopathy Variant Curation Expert Panel. Kountouris P, et al. Among authors: bento c. Hum Mutat. 2022 Aug;43(8):1089-1096. doi: 10.1002/humu.24280. Epub 2021 Sep 24. Hum Mutat. 2022. PMID: 34510646 Free PMC article.
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Bento C, Almeida H, Maia TM, Relvas L, Oliveira AC, Rossi C, Girodon F, Fernandez-Lago C, Aguado-Diaz A, Fraga C, Costa RM, Araújo AL, Silva J, Vitória H, Miguel N, Silveira MP, Martin-Nuñez G, Ribeiro ML. Bento C, et al. Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20. Eur J Haematol. 2013. PMID: 23859443
A Rare Cause of Cyanosis Since Birth: Hb M-Iwate.
Mutlu B, Yılmaz Keskin E, Oliveira AC, Relvas L, Bento C. Mutlu B, et al. Among authors: bento c. Turk J Haematol. 2019 Nov 18;36(4):299-301. doi: 10.4274/tjh.galenos.2019.2019.0123. Epub 2019 Jul 22. Turk J Haematol. 2019. PMID: 31327183 Free PMC article. No abstract available.
Complex inheritance of chronic haemolytic anaemia.
Coutinho R, Bento C, Almeida H, Cunha E, Manco L, Ferreira F, Ribeiro ML. Coutinho R, et al. Among authors: bento c. Br J Haematol. 2009 Feb;144(4):615-6. doi: 10.1111/j.1365-2141.2008.07479.x. Epub 2008 Nov 22. Br J Haematol. 2009. PMID: 19036089 Free article. No abstract available.
254 results