Works matching DE "CYSTIC fibrosis transmembrane conductance regulator"


Results: 1460
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    A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.

    Published in:
    Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 6, p. 1421, doi. 10.1007/s10815-020-01779-6
    By:
    • Wu, Huan;
    • Gao, Yang;
    • Ma, Cong;
    • Shen, Qunshan;
    • Wang, Jiajia;
    • Lv, Mingrong;
    • Liu, Chunyu;
    • Cheng, Huiru;
    • Zhu, Fuxi;
    • Tian, Shixiong;
    • Elshewy, Nagwa;
    • Ni, Xiaoqing;
    • Tan, Qing;
    • Xu, Xiaofeng;
    • Zhou, Ping;
    • Wei, Zhaolian;
    • Zhang, Feng;
    • He, Xiaojin;
    • Cao, Yunxia
    Publication type:
    Article
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    The novel CFTR haplotype E583G/F508del in CFTR-related disorder.

    Published in:
    Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09732-x
    By:
    • De Paolis, Elisa;
    • Tilocca, Bruno;
    • Inchingolo, Riccardo;
    • Lombardi, Carla;
    • Perrucci, Alessia;
    • Maneri, Giulia;
    • Roncada, Paola;
    • Varone, Francesco;
    • Luca, Richeldi;
    • Urbani, Andrea;
    • Minucci, Angelo;
    • Santonocito, Concetta
    Publication type:
    Article
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    NLC Abstracts.

    Published in:
    European Clinical Respiratory Journal, 2022, v. 9, p. 1, doi. 10.1080/20018525.2022.2058255
    By:
    • Backer, Vibeke;
    • Hilberg, Ole;
    • Ulrik, Charlotte
    Publication type:
    Article
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    Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families.

    Published in:
    Life (2075-1729), 2024, v. 14, n. 11, p. 1445, doi. 10.3390/life14111445
    By:
    • Mendiola-Vidal, Namibia Guadalupe;
    • Contreras-Cubas, Cecilia;
    • Barajas-Olmos, Francisco;
    • Villafan-Bernal, José Rafael;
    • Yañez-Felix, Ana Lucia;
    • García-Ortiz, Humberto;
    • Centeno-Cruz, Federico;
    • Mendoza-Caamal, Elvia;
    • Alaez-Verson, Carmen;
    • Jiménez-Ruíz, Juan Luis;
    • Monge-Cázares, Tulia;
    • Lieberman, Esther;
    • Baca, Vicente;
    • Lezana, José Luis;
    • Martínez-Hernández, Angélica;
    • Orozco, Lorena
    Publication type:
    Article
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    One-Year Effect of Elexacaftor/Tezacaftor/Ivacaftor Therapy on HbA1c Levels and Insulin Requirement in Patients with Insulin-Dependent Cystic Fibrosis-Related Diabetes: A Retrospective Observational Study.

    Published in:
    Life (2075-1729), 2024, v. 14, n. 10, p. 1309, doi. 10.3390/life14101309
    By:
    • Bassi, Marta;
    • Strati, Marina Francesca;
    • Spiandorello, Gaia;
    • Scalas, Marta;
    • Cresta, Federico;
    • Calevo, Maria Grazia;
    • d'Annunzio, Giuseppe;
    • Castellani, Carlo;
    • Minuto, Nicola;
    • Maghnie, Mohamad;
    • Casciaro, Rosaria
    Publication type:
    Article
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