Works matching DE "FOUNDER effect"


Results: 55
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    Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.

    Published in:
    Annals of Hematology, 2013, v. 92, n. 3, p. 357, doi. 10.1007/s00277-012-1628-6
    By:
    • Seo, Ja;
    • Song, Joon-Sup;
    • Lee, Ki-O;
    • Won, Hong-Hee;
    • Kim, Jong-Won;
    • Kim, Sun-Hee;
    • Lee, Soo-Hyun;
    • Yoo, Keon-Hee;
    • Sung, Ki-Woong;
    • Koo, Hong;
    • Kang, Hyoung;
    • Shin, Hee;
    • Ahn, Hyo-Seop;
    • Han, Dong;
    • Kook, Hoon;
    • Hwang, Tai;
    • Lyu, Chuhl-Joo;
    • Lee, Mi-Jung;
    • Kim, Ji-Yoon;
    • Park, Sung-Shik
    Publication type:
    Article
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    Is Hepatitis Delta infections important in Brazil?

    Published in:
    BMC Infectious Diseases, 2016, v. 16, p. 1, doi. 10.1186/s12879-016-1856-9
    By:
    • Ferreira Cicero, Maira;
    • Mantovani Pena, Nathalia;
    • Santana, Luiz Claudio;
    • Arnold, Rafael;
    • Gonçalves Azevedo, Rafael;
    • de Souza Leal, Élcio;
    • Sobhie Diaz, Ricardo;
    • Vasconcelos Komninakis, Shirley
    Publication type:
    Article
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    HIV-1 infections with multiple founders are associated with higher viral loads than infections with single founders.

    Published in:
    Nature Medicine, 2015, v. 21, n. 10, p. 1139, doi. 10.1038/nm.3932
    By:
    • Janes, Holly;
    • Herbeck, Joshua T;
    • Tovanabutra, Sodsai;
    • Thomas, Rasmi;
    • Frahm, Nicole;
    • Duerr, Ann;
    • Hural, John;
    • Corey, Lawrence;
    • Self, Steve G;
    • Buchbinder, Susan P;
    • McElrath, M Juliana;
    • O'Connell, Robert J;
    • Paris, Robert M;
    • Rerks-Ngarm, Supachai;
    • Nitayaphan, Sorachai;
    • Pitisuttihum, Punnee;
    • Kaewkungwal, Jaranit;
    • Robb, Merlin L;
    • Michael, Nelson L;
    • Mullins, James I
    Publication type:
    Article
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    Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

    Published in:
    Journal of Human Genetics, 2012, v. 57, n. 2, p. 145, doi. 10.1038/jhg.2011.146
    By:
    • Chiu, Yen-Hui;
    • Chang, Ying-Chen;
    • Chang, Yu-Hsin;
    • Niu, Dau-Ming;
    • Yang, Yan-Ling;
    • Ye, Jun;
    • Jiang, Jianhui;
    • Okano, Yoshiyuki;
    • Lee, Dong Hwan;
    • Pangkanon, Suthipong;
    • Kuptanon, Chulaluck;
    • Hock, Ngu Lock;
    • Chiong, Mary Anne;
    • Cavan, Barbra V;
    • Hsiao, Kwang-Jen;
    • Liu, Tze-Tze
    Publication type:
    Article
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    High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 1, p. 177, doi. 10.1111/cge.13460
    By:
    • Lerat, Justine;
    • Marlin, Sandrine;
    • Mezouaghi, Kheira;
    • Guichet, Agnes;
    • Genin, Emmanuelle;
    • Litzler, Julie;
    • Gesny, Roselyne;
    • Bonnefont, Jean‐Paul;
    • Jonard, Laurence;
    • Bonnet, Crystel;
    • Cartault, François;
    • Gherbi, Souad;
    • Aissa, Ines Ben;
    • Digeon, Fabienne Saint James;
    • Loundon, Natalie;
    • Rouillon, Isabelle;
    • Garabedian, Eréa‐Nöel;
    • Denoyelle, Françoise;
    • Jacquemont, Marie‐Line;
    • Darcel, Françoise
    Publication type:
    Article
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    Identification of a founder BRCA1 mutation in the Moroccan population.

    Published in:
    Clinical Genetics, 2016, v. 90, n. 4, p. 361, doi. 10.1111/cge.12747
    By:
    • Quiles, F.;
    • Teulé, À.;
    • Martinussen Tandstad, N.;
    • Feliubadaló, L.;
    • Tornero, E.;
    • Valle, J.;
    • Menéndez, M.;
    • Salinas, M.;
    • Wethe Rognlien, V.;
    • Velasco, A.;
    • Izquierdo, A.;
    • Capellá, G.;
    • Brunet, J.;
    • Lázaro, C.
    Publication type:
    Article
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    A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.

    Published in:
    Journal of Clinical Immunology, 2016, v. 36, n. 6, p. 547, doi. 10.1007/s10875-016-0299-9
    By:
    • Ben-Farhat, Khaoula;
    • Ben-Mustapha, Imen;
    • Ben-Ali, Meriem;
    • Rouault, Karen;
    • Hamami, Saber;
    • Mekki, Najla;
    • Ben-chehida, Amel;
    • Larguèche, Beya;
    • Fitouri, Zohra;
    • Abdelmoula, Selim;
    • khemiri, Monia;
    • Guediche, Mohamed-Neji;
    • Boukthir, Samir;
    • Barsaoui, Sihem;
    • Chemli, Jalel;
    • Barbouche, Mohamed-Ridha
    Publication type:
    Article
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    K.J.

    Published in:
    Antipodes, 2020, v. 34, n. 2, p. 374, doi. 10.1353/apo.2020.0056
    By:
    • GOODFELLOW, GEOFF
    Publication type:
    Article
    49

    Genetic Drift.

    Published in:
    Antipodes, 2020, v. 34, n. 2, p. 367, doi. 10.1353/apo.2020.0055
    By:
    • MICHAEL, ROSE
    Publication type:
    Article
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