Works matching DE "CILIOPATHY"

Results: 195
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    Corrigendum.

    Published in:
    2017
    Publication type:
    Correction Notice
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    Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.

    Published in:
    European Journal of Pediatrics, 2013, v. 172, n. 7, p. 877, doi. 10.1007/s00431-011-1552-0
    By:
    • Calinescu-Tuleasca, Ana-Maria;
    • Bottani, Armand;
    • Rougemont, Anne-Laure;
    • Birraux, Jacques;
    • Gubler, Marie-Claire;
    • Coultre, Claude;
    • Majno, Pietro;
    • Mentha, Gilles;
    • Girardin, Eric;
    • Belli, Dominique;
    • Wildhaber, Barbara
    Publication type:
    Article
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    Alström syndrome: current perspectives.

    Published in:
    Application of Clinical Genetics, 2015, v. 8, p. 171, doi. 10.2147/TACG.S56612
    By:
    • Álvarez-Satta, María;
    • Castro-Sánchez, Sheila;
    • Valverde, Diana
    Publication type:
    Article
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    Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.

    Published in:
    Nephrology, 2017, v. 22, n. 7, p. 566, doi. 10.1111/nep.12996
    By:
    • Yoshikawa, Takahisa;
    • Kamei, Koichi;
    • Nagata, Hiroko;
    • Saida, Ken;
    • Sato, Mai;
    • Ogura, Masao;
    • Ito, Shuichi;
    • Miyazaki, Osamu;
    • Urushihara, Maki;
    • Kondo, Shuji;
    • Sugawara, Noriko;
    • Ishizuka, Kiyonobu;
    • Hamasaki, Yuko;
    • Shishido, Seiichiro;
    • Morisada, Naoya;
    • Iijima, Kazumoto;
    • Nagata, Michio;
    • Yoshioka, Takako;
    • Ogata, Kentaro;
    • Ishikura, Kenji
    Publication type:
    Article
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    Sperm dysfunction and ciliopathy.

    Published in:
    Reproductive Medicine & Biology, 2016, v. 15, n. 2, p. 77, doi. 10.1007/s12522-015-0225-5
    By:
    • Inaba, Kazuo;
    • Mizuno, Katsutoshi
    Publication type:
    Article
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    INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33547-8
    By:
    • Mascibroda, Lauren G.;
    • Shboul, Mohammad;
    • Elrod, Nathan D.;
    • Colleaux, Laurence;
    • Hamamy, Hanan;
    • Huang, Kai-Lieh;
    • Peart, Natoya;
    • Singh, Moirangthem Kiran;
    • Lee, Hane;
    • Merriman, Barry;
    • Jodoin, Jeanne N.;
    • Sitaram, Poojitha;
    • Lee, Laura A.;
    • Fathalla, Raja;
    • Al-Rawashdeh, Baeth;
    • Ababneh, Osama;
    • El-Khateeb, Mohammad;
    • Escande-Beillard, Nathalie;
    • Nelson, Stanley F.;
    • Wu, Yixuan
    Publication type:
    Article
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    Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 3, p. 311, doi. 10.1111/cge.14663
    By:
    • Radhakrishnan, Periyasamy;
    • Quadri, Neha;
    • Erger, Florian;
    • Fuhrmann, Nico;
    • Geist, Otilia‐Maria;
    • Netzer, Christian;
    • Khyriem, Ibakordor;
    • Muranjan, Mamta;
    • Udani, Vrajesh;
    • Yeole, Mayuri;
    • Mascarenhas, Selinda;
    • Limaye, Sanket;
    • Siddiqui, Shahyan;
    • Upadhyai, Priyanka;
    • Shukla, Anju
    Publication type:
    Article
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    WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 2, p. 298, doi. 10.1111/cge.13872
    By:
    • Solaguren‐Beascoa, Maria;
    • Bujakowska, Kinga M.;
    • Méjécase, Cécile;
    • Emmenegger, Lisa;
    • Orhan, Elise;
    • Neuillé, Marion;
    • Mohand‐Saïd, Saddek;
    • Condroyer, Christel;
    • Lancelot, Marie‐Elise;
    • Michiels, Christelle;
    • Demontant, Vanessa;
    • Antonio, Aline;
    • Letexier, Mélanie;
    • Saraiva, Jean‐Paul;
    • Lonjou, Christine;
    • Carpentier, Wassila;
    • Léveillard, Thierry;
    • Pierce, Eric A.;
    • Dollfus, Hélène;
    • Sahel, José‐Alain
    Publication type:
    Article
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    Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 3, p. 384, doi. 10.1111/cge.13500
    By:
    • Antin, Manuela;
    • Leuvrey, Anne;
    • Nourisson, Elsa;
    • Mary, Laura;
    • Muller, Jean;
    • Bouvier, Raymonde;
    • Buenerd, Annie;
    • Clémenson, Alix;
    • Devisme, Louise;
    • Gasser, Bernard;
    • Gilbert‐Dussardier, Brigitte;
    • Guimiot, Fabien;
    • Khau Van Kien, Philippe;
    • Leroy, Brigitte;
    • Loget, Philippe;
    • Stoetzel, Corinne;
    • Schaefer, Elise;
    • Dollfus, Hélène;
    • Chennen, Kirsley;
    • Martinovic, Jelena
    Publication type:
    Article
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    Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

    Published in:
    Clinical Genetics, 2016, v. 90, n. 6, p. 509, doi. 10.1111/cge.12785
    By:
    • Thevenon, J.;
    • Duplomb, L.;
    • Phadke, S.;
    • Eguether, T.;
    • Saunier, A.;
    • Avila, M.;
    • Carmignac, V.;
    • Bruel, A.‐L.;
    • St‐Onge, J.;
    • Duffourd, Y.;
    • Pazour, G.J.;
    • Franco, B.;
    • Attie‐Bitach, T.;
    • Masurel‐Paulet, A.;
    • Rivière, J.‐B.;
    • Cormier‐Daire, V.;
    • Philippe, C.;
    • Faivre, L.;
    • Thauvin‐Robinet, C.
    Publication type:
    Article