Works matching Sickle cell disease and genetics

Results: 525
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    Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β -Thalassemia Mutation [ HBB : c.265_266del; p.Leu89Glufs*2].

    Published in:
    Hemoglobin, 2017, v. 41, n. 2, p. 89, doi. 10.1080/03630269.2017.1339610
    By:
    • Gueye Tall, Fatou;
    • Martin, Cyril;
    • Malick Ndour, El Hadji;
    • Déme Ly, Indou;
    • Renoux, Céline;
    • Chillotti, Louis;
    • Veyrenche, Nicolas;
    • Connes, Philippe;
    • Madieye Gueye, Papa;
    • Ndiaye Diallo, Rokhaya;
    • Lacan, Philippe;
    • Diagne, Ibrahima;
    • Amadou Diop, Pape;
    • Cissé, Aynina;
    • Lopez Sall, Philomène;
    • Joly, Philippe
    Publication type:
    Article
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    Knowledge and perception of religious leaders on premarital genetic counseling for sickle cell disease in Kano, Northern Nigeria.

    Published in:
    Nigerian Journal of Basic & Clinical Sciences, 2023, v. 20, n. 2, p. 125, doi. 10.4103/njbcs.njbcs_42_23
    By:
    • Galadanci, Aisha;
    • Ibrahim, Umma;
    • Farouk, Zubaida;
    • Abdulqadir, Ibrahim;
    • Caroll, Yvonne;
    • Ding, Juan;
    • Kang, Guolin;
    • Idris, Ibrahim;
    • Musa, Baba;
    • Mukaddas, Aisha;
    • Sani, Bilya;
    • Hussaini, Nafiu;
    • Umar, Bashir;
    • Gambo, Awwal;
    • Galadanci, Hadiza;
    • Estepp, Jeremie;
    • Galadanci, Najibah;
    • DeBaun, Michaeel
    Publication type:
    Article
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    A Toll‐like receptor 2 genetic variant modulates occurrence of bacterial infections in patients with sickle cell disease.

    Published in:
    British Journal of Haematology, 2019, v. 185, n. 5, p. 918, doi. 10.1111/bjh.15875
    By:
    • Tozatto‐Maio, Karina;
    • Girot, Robert;
    • Ly, Indou D.;
    • Rocha, Vanderson;
    • Silva Pinto, Ana C.;
    • Diagne, Ibrahima;
    • Benzerara, Yahia;
    • Dinardo, Carla L.;
    • Kashima, Simone;
    • Leston‐Araujo, Itauá;
    • Kenzey, Chantal;
    • Fonseca, Guilherme H. H.;
    • Rodrigues, Evandra S.;
    • Volt, Fernanda;
    • Jarduli, Luciana R.;
    • Ruggeri, Annalisa;
    • Mariaselvam, Christina M.;
    • Gualandro, Sandra F. M.;
    • Elayoubi, Hanadi;
    • Cunha, Renato
    Publication type:
    Article
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    Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease.

    Published in:
    Human Genetics, 2015, v. 134, n. 8, p. 895, doi. 10.1007/s00439-015-1572-3
    By:
    • Zhang, Xu;
    • Zhang, Wei;
    • Saraf, Santosh;
    • Nouraie, Mehdi;
    • Han, Jin;
    • Gowhari, Michel;
    • Hassan, Johara;
    • Miasnikova, Galina;
    • Sergueeva, Adelina;
    • Nekhai, Sergei;
    • Kittles, Rick;
    • Machado, Roberto;
    • Garcia, Joe;
    • Gladwin, Mark;
    • Steinberg, Martin;
    • Sebastiani, Paola;
    • McClain, Donald;
    • Gordeuk, Victor
    Publication type:
    Article
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    Genetic polymorphisms associated with priapism in sickle cell disease.

    Published in:
    British Journal of Haematology, 2007, v. 137, n. 3, p. 262, doi. 10.1111/j.1365-2141.2007.06560.x
    By:
    • Elliott, Laine;
    • Ashley-Koch, Allison E.;
    • Castro, Laura De;
    • Jonassaint, Jude;
    • Price, Jennifer;
    • Ataga, Kenneth I.;
    • Levesque, Marc C.;
    • Brice Weinberg, J.;
    • Eckman, James R.;
    • Orringer, Eugene P.;
    • Vance, Jeffery M.;
    • Telen, Marilyn J.
    Publication type:
    Article
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    Identification of genetic biomarkers for alloimmunization in sickle cell disease.

    Published in:
    British Journal of Haematology, 2019, v. 186, n. 6, p. 887, doi. 10.1111/bjh.15998
    By:
    • Meinderts, Sanne M.;
    • Gerritsma, Jorn J.;
    • Sins, Joep W. R.;
    • Boer, Martin;
    • Leeuwen, Karin;
    • Biemond, Bart J.;
    • Rijneveld, Anita W.;
    • Kerkhoffs, Jean‐Louis H.;
    • Habibi, Anoosha;
    • Bruggen, Robin;
    • Kuijpers, Taco W.;
    • Schoot, Ellen;
    • Pirenne, France;
    • Fijnvandraat, Karin;
    • Tanck, Michael W.;
    • Berg, Timo K.
    Publication type:
    Article
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    Clinical and genetic ancestry profile of a large multi‐centre sickle cell disease cohort in Brazil.

    Published in:
    British Journal of Haematology, 2018, v. 182, n. 6, p. 895, doi. 10.1111/bjh.15462
    By:
    • Carneiro‐Proietti, Anna B. F.;
    • Kelly, Shannon;
    • Miranda Teixeira, Carolina;
    • Sabino, Ester C.;
    • Alencar, Cecilia S.;
    • Capuani, Ligia;
    • Salomon Silva, Tassila P.;
    • Araujo, Aderson;
    • Loureiro, Paula;
    • Máximo, Cláudia;
    • Lobo, Clarisse;
    • Flor‐Park, Miriam V.;
    • Rodrigues, Daniela O. W.;
    • Mota, Rosimere A.;
    • Gonçalez, Thelma T.;
    • Hoppe, Carolyn;
    • Ferreira, João E.;
    • Ozahata, Mina;
    • Page, Grier P.;
    • Guo, Yuelong
    Publication type:
    Article
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    The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 10, p. 919, doi. 10.1093/hmg/ddae014
    By:
    • Ojewunmi, Oyesola O;
    • Adeyemo, Titilope A;
    • Oyetunji, Ajoke I;
    • Inyang, Bassey;
    • Akinrindoye, Afolashade;
    • Mkumbe, Baraka S;
    • Gardner, Kate;
    • Rooks, Helen;
    • Brewin, John;
    • Patel, Hamel;
    • Lee, Sang Hyuck;
    • Chung, Raymond;
    • Rashkin, Sara;
    • Kang, Guolian;
    • Chianumba, Reuben;
    • Sangeda, Raphael;
    • Mwita, Liberata;
    • Isa, Hezekiah;
    • Agumadu, Uche-Nnebe;
    • Ekong, Rosemary
    Publication type:
    Article
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    Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform.

    Published in:
    Frontiers in Molecular Biosciences, 2023, p. 1, doi. 10.3389/fmolb.2023.1244244
    By:
    • Gupta, Pragya;
    • Arvinden, V. R.;
    • Thakur, Priya;
    • Bhoyar, Rahul C.;
    • Saravanakumar, Vinodh;
    • Gottumukkala, Narendra Varma;
    • Goswami, Sangam Giri;
    • Nafiz, Mehwish;
    • Iyer, Aditya Ramdas;
    • Vignesh, Harie;
    • Soni, Rajat;
    • Bhargava, Nupur;
    • Gunda, Padma;
    • Jain, Suman;
    • Gupta, Vivek;
    • Sivasubbu, Sridhar;
    • Scaria, Vinod;
    • Ramalingam, Sivaprakash
    Publication type:
    Article
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