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Page 1
Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).
Branco CC, Gomes CT, De Fez L, Bulhões S, Brilhante MJ, Pereirinha T, Cabral R, Rego AC, Fraga C, Miguel AG, Brasil G, Macedo P, Mota-Vieira L. Branco CC, et al. Among authors: fraga c. PLoS One. 2015 Oct 26;10(10):e0140228. doi: 10.1371/journal.pone.0140228. eCollection 2015. PLoS One. 2015. PMID: 26501199 Free PMC article.
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. Among authors: fraga c. Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22. Hum Mutat. 2014. PMID: 24115288
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. Among authors: fraga c. Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20. Eur J Haematol. 2013. PMID: 23859443
Extramedullary Acute Leukemia-Still an Unforeseen Presentation.
Rochate D, Pavão C, Amaral R, Viveiros C, Cabeçadas J, Carneiro V, Fraga C. Rochate D, et al. Among authors: fraga c. Hematol Rep. 2022 Apr 18;14(2):143-148. doi: 10.3390/hematolrep14020021. Hematol Rep. 2022. PMID: 35466185 Free PMC article.
Multiple myeloma in elderly patients-a Portuguese multicentric real-life study.
João C, Bergantim R, Neves M, Chacim S, Afonso C, Barradas J, Bernardo M, Coelho H, Esteves G, Fraga C, Geraldes C, Gonçalves C, Jorge A, Macedo A, Mendonça T, Moreira A, Roque A, Sarmento AB, Trigo F, Vitória H, Esteves S, Lúcio P. João C, et al. Among authors: fraga c. Ann Hematol. 2019 Jul;98(7):1689-1701. doi: 10.1007/s00277-019-03640-y. Epub 2019 Apr 8. Ann Hematol. 2019. PMID: 30963200 Clinical Trial.
Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial.
Charrow J, Fraga C, Gu X, Ida H, Longo N, Lukina E, Nonino A, Gaemers SJM, Jouvin MH, Li J, Wu Y, Xue Y, Peterschmitt MJ. Charrow J, et al. Among authors: fraga c. Mol Genet Metab. 2018 Mar;123(3):347-356. doi: 10.1016/j.ymgme.2017.12.001. Epub 2018 Jan 4. Mol Genet Metab. 2018. PMID: 29358012 Free article. Clinical Trial.
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Mistry PK, et al. Among authors: fraga c. Blood Cells Mol Dis. 2019 Jul;77:101-102. doi: 10.1016/j.bcmd.2019.04.003. Epub 2019 Apr 9. Blood Cells Mol Dis. 2019. PMID: 31029022 No abstract available.
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Mistry PK, et al. Among authors: fraga c. Blood Cells Mol Dis. 2018 Jul;71:71-74. doi: 10.1016/j.bcmd.2018.04.001. Epub 2018 Apr 9. Blood Cells Mol Dis. 2018. PMID: 29680197 Free article. No abstract available.
Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.
Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, Di Rocco M, Fraga C, Giona F, Giraldo P, Hasanhodzic M, Hughes DA, Iversen PO, Kiewiet AI, Lukina E, Machaczka M, Marinakis T, Mengel E, Pastores GM, Plöckinger U, Rosenbaum H, Serratrice C, Symeonidis A, Szer J, Timmerman J, Tylki-Szymańska A, Weisz Hubshman M, Zafeiriou DI, Zimran A, Hollak CEM. Biegstraaten M, et al. Among authors: fraga c. Blood Cells Mol Dis. 2018 Feb;68:203-208. doi: 10.1016/j.bcmd.2016.10.008. Epub 2016 Oct 24. Blood Cells Mol Dis. 2018. PMID: 28274788 Free article.
491 results