Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients

Authors: 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

Source: Genetics and Molecular Biology. December 2017 40(4)

Subject Terms: α-Thalassemia, Hb H disease, multiplex ligation-dependent probe amplification, MLPA, Brazilian population

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500768

Prevalência de dislipidemia em adultos de meia-idade com polimorfismo do gene NOS3 e baixa aptidão cardiorrespiratória

Authors: Malagrino, Pamella A., Sponton, Carlos H. G., Esposti, Rodrigo D., Franco-Penteado, Carla F., Fernandes, Romulo A., Bezerra, Marcos André C., Albuquerque, Dulcinéia M., Rodovalho, Cynara M., Bacci, Maurício, Zanesco, Angelina

Source: Arquivos Brasileiros de Endocrinologia & Metabologia. February 2013 57(1)

Subject Terms: Polimorfismos, aptidão cardiorrespiratória, dislipidemia, adultos

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302013000100005

Identificação e caracterização de variantes novas e raras da hemoglobina humana

Authors: Kimura, Elza M., Oliveira, Denise M., Jorge, Susan E. D. C., Abreu, Cristina F., Albuquerque, Dulcinéia M., Costa, Fernando F., Sonati, Maria de Fátima

Source: Revista Brasileira de Hematologia e Hemoterapia. August 2008 30(4)

Subject Terms: Hemoglobinopatias hereditárias, variantes estruturais, genes de globinas, população brasileira

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842008000400016

Functional characterization of compound heterozygosity Hb S/Hb Deer Lodge in Brazil

Authors: Sobreira, Marcondes J., Batista, Thais H., Santana, Rodrigo M., Arcanjo, Gabriela S., Jorge, Susan E., Santos, Magnun N., Albuquerque, Dulcinéia M., Hatzlhofer, Betânia L., dos Anjos, Ana C., Costa, Fernando F., Araujo, Aderson S., Sonati, Maria F., Lucena-Araujo, Antonio R., Bezerra, Marcos A.

Source: In Hematology, Transfusion and Cell Therapy November 2024 46 Supplement 5:S158-S162

Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia

Authors: Pedroso, Gisele A., Kimura, Elza M., Santos, Magnun N. N., Albuquerque, Dulcinéia M., Ferruzzi, Jucilane L. H., Jorge, Susan E., Costa, Fernando F., Saad, Sara T. O., Sonati, Maria F.

Source: Hemoglobin. 41(3):203-208

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100105341069.0x000001&indx=1&recIds=ETOCvdc_100105341069.0x000001

Reduced plasma angiotensin II levels are reversed by hydroxyurea treatment in mice with sickle cell disease

Authors: dos Santos, Alisson F., Almeida, Camila B., Brugnerotto, Ana F., Roversi, Fernanda M., Pallis, Flávia R., Franco-Penteado, Carla F., Lanaro, Carolina, Albuquerque, Dulcinéia M., Leonardo, Flávia C., Costa, Fernando F., Conran, Nicola

Source: In Life Sciences 4 November 2014 117(1):7-12

Hb S-São Paulo: A new sickling hemoglobin with stable polymers and decreased oxygen affinity

Authors: 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

Source: In Archives of Biochemistry and Biophysics 1 March 2012 519(1):23-31

Association of Nitric Oxide Synthase and Matrix Metalloprotease Single Nucleotide Polymorphisms with Preeclampsia and Its Complications.

Authors: Leonardo, Daniela P.¹, Albuquerque, Dulcinéia M.¹, Lanaro, Carolina¹, Baptista, Letícia C.¹, Cecatti, José G.², Surita, Fernanda G.², Parpinelli, Mary A.², Costa, Fernando F.¹, Franco-Penteado, Carla F.¹, Fertrin, Kleber Y.^1,3 fertrin@unicamp.br, Costa, Maria Laura²

Source: PLoS ONE. 8/28/2015, Vol. 10 Issue 8, p1-11. 11p.

Subject Terms: *NITRIC-oxide synthases, *MATRIX metalloproteinases, *SINGLE nucleotide polymorphisms, *PREECLAMPSIA, *MATERNAL mortality, *PREGNANCY complications

Surveillance of active human cytomegalovirus infection in hematopoietic stem cell transplantation (HLA sibling identical donor): search for optimal cutoff value by real-time PCR

Authors: Aranha Francisco JP, Vigorito Afonso C, de Oliveira Cristiane, Albuquerque Dulcinéia M, Bonon Sandra HA, Andrade Paula D, Costa Cláudia RC, Peres Renata MB, de Souza Cármino A, Costa Sandra CB

Source: BMC Infectious Diseases, Vol 10, Iss 1, p 147 (2010)

Subject Terms: Infectious and parasitic diseases, RC109-216

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2334/10/147; https://doaj.org/toc/1471-2334

Access URL: https://doaj.org/article/93c99dbdc15d47bdbaaa8e9afb2ba2a7

Influence of UGT1A1 promoter polymorphism, α-thalassemia and βs haplotype in bilirubin levels and cholelithiasis in a large sickle cell anemia cohort.

Authors: Batista, Jéssica V. G. F., Arcanjo, Gabriela S., Batista, Thais H. C., Sobreira, Marcondes J., Santana, Rodrigo M., Domingos, Igor F., Hatzlhofer, Betânia L., Falcão, Diego A., Pereira-Martins, Diego A., Oliveira, Jéssica M., Araujo, Amanda S., Laranjeira, Luana P. M., Medeiros, Fernanda S., Albuquerque, Flávia P., Albuquerque, Dulcinéia M., Santos, Magnun N., Hazin, Manuela F., dos Anjos, Ana C., Costa, Fernando F., Araujo, Aderson S.

Source: Annals of Hematology; Apr2021, Vol. 100 Issue 4, p903-911, 9p

Subject Terms: SICKLE cell anemia, GALLSTONES, BILIRUBIN, FETAL hemoglobin, ERYTHROCYTE deformability, GENETIC polymorphisms

Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [ β122 (GH5) Phe→Ser], a probable case of germ line mutation, and Hb Olinda [ β22 (B4) - 25 (B7)], a deletion of a 12 base-pair sequence.

Authors: Bezerra, Marcos A. C.^1,2, Albuquerque, Dulcinéia M.², Santos, Magnun N. N.^1,3, Kimura, Elza M.³, Jorge, Susan E. D. C.³, Oliveira, Denise M.³, Domingues, Betânia L. T. B.¹, Peres, Jaqueline C.¹, Araújo, Aderson S.¹, Costa, Fernando F.², Sonati, Maria F.³ sonati@fcm.unicamp.br

Source: European Journal of Haematology. Oct2009, Vol. 83 Issue 4, p378-382. 5p. 1 Chart, 2 Graphs.

Subject Terms: *HEMOGLOBINS, *BLOOD diseases, *HEMOLYTIC anemia, *GENETIC mutation

Geographic Terms: BRAZIL

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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.

Authors: Fornari, Thais A., Lanaro, Carolina, Albuquerque, Dulcinéia M., Ferreira, Regiane, Costa, Fernando F.

Source: Experimental Biology & Medicine; Feb2017, Vol. 242 Issue 3, p267-274, 8p, 2 Diagrams, 1 Chart, 3 Graphs