Search Results - "Albuquerque, Dulcineia M."

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    Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients by Mota, Natália O, Kimura, Elza M, Ferreira, Roberta D, Pedroso, Gisele A, Albuquerque, Dulcinéia M, Ribeiro, Daniela M, Santos, Magnun N N, Bittar, Cristina M, Costa, Fernando F, Sonati, Maria de Fatima

    Published in Genetics and molecular biology (01-10-2017)
    “…Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical…”
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    MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease by Hatzlhofer, Betânia L D, Bezerra, Marcos André C, Santos, Magnun N N, Albuquerque, Dulcinéia M, Freitas, Elizabete M, Costa, Fernando F, Araújo, Aderson S, Muniz, Maria Tereza C

    Published in Genetic testing and molecular biomarkers (01-09-2012)
    “…Vaso-occlusion is a determinant for most signs and symptoms of sickle-cell anemia (SCA). The mechanisms involved in the pathogenesis of vascular complications…”
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    Molecular characteristics and chromatin texture features in acute promyelocytic leukemia by De Mello, Mariana R B, Albuquerque, Dulcineia M, Pereira-Cunha, Fernanda Gonçalves, Albanez, Krizzia B, Pagnano, Katia B B, Costa, Fernando F, Metze, Konradin, Lorand-Metze, Irene

    Published in Diagnostic pathology (28-06-2012)
    “…Acute promyelocytic leukemia is a cytogenetically well defined entity. Nevertheless, some features observed at diagnosis are related to a worse outcome of the…”
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    Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia by Olatunya, Oladele S., Albuquerque, Dulcineia M., Adekile, Adekunle, Costa, Fernando F.

    Published in Journal of clinical laboratory analysis (01-02-2019)
    “…Background There is paucity of data on the influence of alpha thalassemia on the clinical and laboratory parameters among Nigerian sickle cell anemia (SCA)…”
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    Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian δβ-thalassemia, by BCL11A and SOX6-targeting microRNAs by Fornari, Thais A, Lanaro, Carolina, Albuquerque, Dulcinéia M, Ferreira, Regiane, Costa, Fernando F

    “…Hereditary persistence of fetal hemoglobin deletion type-2 (HPFH-2) and Sicilian-δβ-thalassemia are conditions described as large deletions of the human β-like…”
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    An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis by Hollanda, Luciana M, Lima, Carmen S P, Costa, Fernando F, Vassallo, José, Saad, Sara T O, Cunha, Anderson F, Joazeiro, Paulo P, Ozelo, Margareth C, Albuquerque, Dulcinéia M

    Published in Nature genetics (01-07-2006)
    “…Acquired somatic mutations in exon 2 of the hematopoietic transcription factor GATA-1 have been found in individuals with Down syndrome with both transient…”
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    Thalassemia major phenotype caused by HB Zürich‐Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child by Pedroso, Gisele A., Kimura, Elza M., Santos, Magnun N.N., Albuquerque, Dulcinéia M., Malimpensa, Danaê, Jorge, Susan E., Verissimo, Monica P.A., Costa, Fernando F., Sonati, Maria F.

    Published in Pediatric blood & cancer (01-12-2018)
    “…Hemoglobin (Hb) Zürich‐Albisrieden (ZA) [α2 59(E8) Gly > Arg; HBA2:c.178G > C] is a rare and highly unstable α‐chain variant. A few simple and compound…”
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    Hb S-São Paulo: A new sickling hemoglobin with stable polymers and decreased oxygen affinity by Jorge, Susan E.D.C., Petruk, Ariel A., Kimura, Elza M., Oliveira, Denise M., Caire, Lucas, Suemasu, Cintia N., Silveira, Paulo A.A., Albuquerque, Dulcineia M., Costa, Fernando F., Skaf, Munir S., Martínez, Leandro, Sonati, Maria de Fatima

    Published in Archives of biochemistry and biophysics (01-03-2012)
    “…► A new human β-globin variant was found: Hb S-São Paulo [HBB:c.20A>T p.Glu6Val; c.196A>G p.Lys65Glu]. ► The double-mutant caused clinical features of sickle…”
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