Works matching DE "X-linked genetic disorders"

Results: 752
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    A global living systematic review and meta-analysis hub of emerging vaccines in pregnancy and childhood.

    Published in:
    Reproductive Health, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12978-025-02090-2
    By:
    • Ciapponi, Agustín;
    • Bardach, Ariel;
    • Berrueta, Mabel;
    • Ballivian, Jamile;
    • Brizuela, Martin;
    • Caravario, Julieta;
    • Castellana, Noelia;
    • Comande, Daniel;
    • Couto, Esteban;
    • Mazzoni, Agustina;
    • Ortega, Vanesa;
    • Parker, Edward P. K.;
    • Sambade, Juan M.;
    • Florencia, Salva;
    • Smutny, Juan Pablo;
    • Stegelmann, Katharina;
    • Xiong, Xu;
    • Stergachis, Andy;
    • Munoz, Flor M.;
    • Buekens, Pierre
    Publication type:
    Article
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    Aspecte clinico-genetice în sindromul X fragil la copii.

    Published in:
    Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2025, v. 31, n. 1, p. 45
    By:
    • Sprincean, Mariana;
    • Hadjiu, Svetlana;
    • Sprincean, Serghei;
    • CălcîI, Cornelia;
    • Vasilachi, Dorina;
    • Badan, Liliana;
    • Balica, Natalia;
    • Constantin, Olga;
    • Capestru, Elena;
    • Istratiuc, Irina;
    • Racoviță, Stela;
    • Dumitraș, Aliona;
    • Revenco, Ninel;
    • Groppa, St.
    Publication type:
    Article
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    VEXAS syndrome through a rheumatologist's lens: insights from a Spanish national cohort.

    Published in:
    Rheumatology, 2025, v. 64, n. 6, p. 3747, doi. 10.1093/rheumatology/keaf094
    By:
    • García-Escudero, Paula;
    • López-Gómez, Marta;
    • López, Berta Magallares;
    • Dorta, Alicia García;
    • Frade-Sosa, Beatriz;
    • Lizarzaburu, Meritxell Sallés;
    • Rúa-Figueroa, Íñigo;
    • Fiallo, Dolly Viviana;
    • Miera, Francisco Javier Toyos Sáenz de;
    • Melero-Gonzalez, Rafael Benito;
    • Santos, Diego Dios;
    • Miranda, José Alberto;
    • Belando, Clara García;
    • Boselli, Giuliano;
    • Boteanu, Alina Lucica;
    • Villalobos, Lourdes;
    • Selaya, Cristina Corrales;
    • Santos, Cristiana Sieiro;
    • Álvarez, Elvira Díez;
    • Font, Judit
    Publication type:
    Article
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    Acute kidney injury, an underrecognized feature of VEXAS syndrome.

    Published in:
    Rheumatology, 2025, v. 64, n. 3, p. 2027, doi. 10.1093/rheumatology/keae465
    By:
    • Kalantari, Kambiz;
    • Sullivan, Megan M;
    • Hernandez, Loren P Herrera;
    • Bu, Lihong;
    • Cornell, Lynn D;
    • Nasr, Samih H;
    • Fervenza, Fernando C;
    • Montes, Daniel;
    • Mangaonkar, Abhishek A;
    • Go, Ronald S;
    • Kusne, Yael N;
    • Patnaik, Mrinal M;
    • Lasho, Terra L;
    • Olteanu, Horatiu;
    • Reichard, Kaaren K;
    • Warrington, Kenneth J;
    • Koster, Matthew J
    Publication type:
    Article
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    Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.

    Published in:
    Rheumatology, 2024, v. 63, n. 10, p. 2897, doi. 10.1093/rheumatology/keae201
    By:
    • Cardona, Daniela Ospina;
    • Rodriguez-Pinto, Ignasi;
    • Iosim, Sonia;
    • Bonet, Nuria;
    • Mensa-Vilaro, Anna;
    • Wong, Mei-Kay;
    • Ho, Gary;
    • Tormo, Marc;
    • Yagüe, Jordi;
    • Shon, Wonwoo;
    • Wallace, Daniel J;
    • Casals, Ferran;
    • Beck, David B;
    • Abuav, Rachel;
    • Arostegui, Juan I
    Publication type:
    Article
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    Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.

    Published in:
    Rheumatology, 2024, v. 63, n. 8, p. 2056, doi. 10.1093/rheumatology/kead425
    By:
    • Maeda, Ayaka;
    • Tsuchida, Naomi;
    • Uchiyama, Yuri;
    • Horita, Nobuyuki;
    • Kobayashi, Satoshi;
    • Kishimoto, Mitsumasa;
    • Kobayashi, Daisuke;
    • Matsumoto, Haruki;
    • Asano, Tomoyuki;
    • Migita, Kiyoshi;
    • Kato, Ayaka;
    • Mori, Ichiro;
    • Morita, Hiroyuki;
    • Matsubara, Akihiro;
    • Marumo, Yoshiaki;
    • Ito, Yuji;
    • Machiyama, Tomoaki;
    • Shirai, Tsuyoshi;
    • Ishii, Tomonori;
    • Kishibe, Mari
    Publication type:
    Article
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    Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.

    Published in:
    Clinical & Experimental Dermatology, 2022, v. 47, n. 12, p. 2342, doi. 10.1111/ced.15355
    By:
    • Martinez‐Falero, Beatriz Suarez;
    • Koutalopoulou, Anastasia;
    • Douglas, Andrew G. L.;
    • Kharbanda, Mira;
    • Collinson, Morag N.;
    • Lotery, Andrew;
    • Lotery, Helen
    Publication type:
    Article
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