Works matching DE "ARTHROGRYPOSIS"

Results: 519
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    In-reply to the comment by Poling et al.

    Published in:
    JA Clinical Reports, 2024, v. 10, n. 1, p. 1, doi. 10.1186/s40981-023-00681-1
    By:
    • Takahashi, Kyosuke;
    • Sakurai, Kotaro;
    • Hamaya, Izumi
    Publication type:
    Article
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    Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

    Published in:
    Genes, 2022, v. 13, n. 1, p. 29, doi. 10.3390/genes13010029
    By:
    • Pollazzon, Marzia;
    • Caraffi, Stefano Giuseppe;
    • Faccioli, Silvia;
    • Rosato, Simonetta;
    • Fodstad, Heidi;
    • Campos-Xavier, Belinda;
    • Soncini, Emanuele;
    • Comitini, Giuseppina;
    • Frattini, Daniele;
    • Grimaldi, Teresa;
    • Marinelli, Maria;
    • Martorana, Davide;
    • Percesepe, Antonio;
    • Sassi, Silvia;
    • Fusco, Carlo;
    • Gargano, Giancarlo;
    • Superti-Furga, Andrea;
    • Garavelli, Livia
    Publication type:
    Article
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    Freeman-Burian syndrome.

    Published in:
    2019
    By:
    • Poling, Mikaela I.;
    • Dufresne, Craig R.;
    • Chamberlain, Robert L.
    Publication type:
    journal article
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    Corrigendum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

    Published in:
    2011
    By:
    • Cullinane, Andrew R;
    • Straatman-Iwanowska, Anna;
    • Zaucker, Andreas;
    • Wakabayashi, Yoshiyuki;
    • Bruce, Christopher K;
    • Luo, Guanmei;
    • Rahman, Fatimah;
    • Gürakan, Figen;
    • Utine, Eda;
    • Özkan, Tanju B;
    • Denecke, Jonas;
    • Vukovic, Jurica;
    • Rocco, Maja Di;
    • Mandel, Hanna;
    • Cangul, Hakan;
    • Matthews, Randolph P;
    • Thomas, Steve G;
    • Rappoport, Joshua Z;
    • Arias, Irwin M;
    • Wolburg, Hartwig
    Publication type:
    Correction Notice
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    Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

    Published in:
    Nature Genetics, 2010, v. 42, n. 4, p. 303, doi. 10.1038/ng.538
    By:
    • Cullinane, Andrew R.;
    • Straatman-Iwanowska, Anna;
    • Zaucker, Andreas;
    • Wakabayashi, Yoshiyuki;
    • Bruce, Christopher K.;
    • Luo, Guanmei;
    • Rahman, Fatimah;
    • Gürakan, Figen;
    • Utine, Eda;
    • Özkan, Tanju B.;
    • Denecke, Jonas;
    • Vukovic, Jurica;
    • Di Rocco, Maja;
    • Mandel, Hanna;
    • Cangul, Hakan;
    • Matthews, Randolph P.;
    • Thomas, Steve G.;
    • Rappoport, Joshua Z.;
    • Arias, Irwin M.;
    • Wolburg, Hartwig
    Publication type:
    Article
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    Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

    Published in:
    Nature Genetics, 2004, v. 36, n. 4, p. 400, doi. 10.1038/ng1325
    By:
    • Gissen, Paul;
    • Johnson, Colin A.;
    • Morgan, Neil V.;
    • Stapelbroek, Janneke M.;
    • Forshew, Tim;
    • Cooper, Wendy N.;
    • McKiernan, Patrick J.;
    • Klomp, Leo W. J.;
    • Morris, Andrew A. M.;
    • Wraith, James E.;
    • McClean, Patricia;
    • Lynch, Sally A.;
    • Thompson, Richard J.;
    • Lo, Bryan;
    • Quarrell, Oliver W.;
    • Di Rocco, Maja;
    • Trembath, Richard C.;
    • Mandel, Hanna;
    • Wali, S.;
    • Karet, Fiona E.
    Publication type:
    Article
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    Transcriptional Changes Associated with Amyoplasia.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 1, p. 124, doi. 10.3390/ijms26010124
    By:
    • Komissarov, Artem E.;
    • Agranovich, Olga E.;
    • Kuchinskaia, Ianina A.;
    • Tkacheva, Irina V.;
    • Bolshakova, Olga I.;
    • Latypova, Evgenia M.;
    • Batkin, Sergey F.;
    • Sarantseva, Svetlana V.
    Publication type:
    Article
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