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Risk Stratification of Myelodysplastic Syndromes - Is There Room for Improvement? Bárbara Almeida Marques, Duarte Pacheco Silva, João Gaião Santos, Pedro Pinho Moura, Cátia Almeida, Ana Teresa Simões, Ana Catarina Oliveira, Margarida Coucelo, Emilia Cortesao
Blood (2022) 140 (Supplement 1): 12319–12320.
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Molecular Heterogeneityof Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population. Manco L, Bento C, Relvas L, Maia T, Ribeiro ML.
ActaMedPort. 2022 Sep 23. doi: 10.20344/amp.17584. Epubaheadof print. PMID: 36150187.
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Peripheral Blood Smear Findings in 2 Patients With Coexisting Thalassemia and Hereditary Spherocytosis. Daşdemir S, Kaya Z, Bento C.
J Pediatr Hemato lOncol. 2022 Sep 13. doi: 10.1097/MPH.0000000000002554. Epub ahead of print. PMID: 36161974.
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Genetic Variants of ABC and SLC Transporter Genes and Chronic Myeloid Leukaemia: Impact on Susceptibility and Prognosis Alves R, Gonçalves AC, Jorge J, Marques G, Ribeiro AB, Tenreiro R, Coucelo M, Diamond J, Oliveiros B, Pereira A, Freitas-Tavares P, Almeida AM, Sarmento-Ribeiro AB
Int J Mol Sci. 2022 Aug 29;23(17):9815. doi: 10.3390/ijms23179815. PMID: 36077209
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ClinGen Hemoglobinopathy Variant Curation Expert Panel. Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation ExpertPanel. 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
. Hum Mutat. 2022 Aug;43(8):1089-1096. doi: 10.1002/humu.24280. Epub 2021 Sep 24. PMID: 34510646; PMCID: PMC9545675.
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Variants in the new E1 cryptic exon of the VHL gene associated with congenital erythrocytosis- Description of three cases Rodrigues CD, Pombal R, Pereira J, Relvas L, Cunha E, Almeida JC, Maia T, Silva H, Bento C.
E J Haem. 2022 Jul 1;3(3):989-991. doi: 10.1002/jha2.490. PMID: 36051068; PMCID: PMC9421959.
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Evaluation of Morbimortality Factors of Patients with Acquired Thrombotic Thrombocytopenic Purpura. Pinto, M. I; Marques, B.; Coelho, D; Martinho, P.; Fidalgo, T.; Carda, J. P.; Sarmento Ribeiro, A. B.
HemaSphere 6():p 2179-2180, June 2022. doi:10.1097/01.HS9.0000852064.37541.0c
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Recomendaciones para el abordaje clínico de pacientes con púrpura trombocitopénica trombótica M E Mingot Castellano, C Pascual Izquierdo, A González, A Viejo Llorente (....) T Fidalgo et al
Medicina Clínica (English Edition), Volume 158, Issue 12, 24 June 2022, Pages 630.e1-630.e14.
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Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster. Manco L, Santos R, Rocha C, Relvas L, Bento C, Maia T, Gomes V, Amorim A, Prata MJ.
Hemoglobin. 2022 May;46(3):168-175. doi: 10.1080/03630269.2022.2070498. Epub 2022 May 30. PMID: 35635444.
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Novel homozygous nonsense mutation in the P5N-1 coding gene as analternative cause for hereditary anemia with basophilic stippling Kirschner M, Heinen IR, Koschmieder S, Manco L, Bento C, Eggermann T, Kurth I, Jost E, Brümmendorf TH, Fuchs R.
Clin Case Rep. 2022 Mar 4;10(3):e05501. doi: 10.1002/ccr3.5501. PMID: 35280089; PMCID: PMC8895901.
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