Works about DE Lange's syndrome

Results: 151
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    Cornelia de Lange syndrome.

    Published in:
    British Journal of Dermatology, 1976, v. 95, n. 6, p. 37
    By:
    • MacDonald, D. M.
    Publication type:
    Article
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    A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

    Published in:
    Clinical Genetics, 2016, v. 89, n. 5, p. 584, doi. 10.1111/cge.12720
    By:
    • Nizon, M.;
    • Henry, M.;
    • Michot, C.;
    • Baumann, C.;
    • Bazin, A.;
    • Bessières, B.;
    • Blesson, S.;
    • Cordier‐Alex, M.‐P.;
    • David, A.;
    • Delahaye‐Duriez, A.;
    • Delezoïde, A.‐L.;
    • Dieux‐Coeslier, A.;
    • Doco‐Fenzy, M.;
    • Faivre, L.;
    • Goldenberg, A.;
    • Layet, V.;
    • Loget, P.;
    • Marlin, S.;
    • Martinovic, J.;
    • Odent, S.
    Publication type:
    Article
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    Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

    Published in:
    Clinical Genetics, 2016, v. 89, n. 1, p. 74, doi. 10.1111/cge.12564
    By:
    • Parenti, I.;
    • Gervasini, C.;
    • Pozojevic, J.;
    • Graul‐Neumann, L.;
    • Azzollini, J.;
    • Braunholz, D.;
    • Watrin, E.;
    • Wendt, K.S.;
    • Cereda, A.;
    • Cittaro, D.;
    • Gillessen‐Kaesbach, G.;
    • Lazarevic, D.;
    • Mariani, M.;
    • Russo, S.;
    • Werner, R.;
    • Krawitz, P.;
    • Larizza, L.;
    • Selicorni, A.;
    • Kaiser, F.J.
    Publication type:
    Article
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    Cornelia de Lange syndrome.

    Published in:
    Clinical Genetics, 2015, v. 88, n. 1, p. 1, doi. 10.1111/cge.12499
    By:
    • Boyle, M.I.;
    • Jespersgaard, C.;
    • Brøndum‐Nielsen, K.;
    • Bisgaard, A.‐M.;
    • Tümer, Z.
    Publication type:
    Article
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    Could a patient with SMC1A duplication be classified as a human cohesinopathy?

    Published in:
    Clinical Genetics, 2014, v. 85, n. 5, p. 446, doi. 10.1111/cge.12194
    By:
    • Baquero‐Montoya, C.;
    • Gil‐Rodríguez, M.C.;
    • Teresa‐Rodrigo, M.E.;
    • Hernández‐Marcos, M.;
    • Bueno‐Lozano, G.;
    • Bueno‐Martínez, I.;
    • Remeseiro, S.;
    • Fernández‐Hernández, R.;
    • Bassecourt‐Serra, M.;
    • Rodríguez de Alba, M.;
    • Queralt, E.;
    • Losada, A.;
    • Puisac, B.;
    • Ramos, F.J.;
    • Pié, J.
    Publication type:
    Article
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    Clinical utility gene card for: Cornelia de Lange syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.270
    By:
    • Ramos, Feliciano J;
    • Puisac, Beatriz;
    • Baquero-Montoya, Carolina;
    • Gil-Rodríguez, Ma Concepción;
    • Bueno, Inés;
    • Deardorff, Matthew A;
    • Hennekam, Raoul C;
    • Kaiser, Frank J;
    • Krantz, Ian D;
    • Musio, Antonio;
    • Selicorni, Angelo;
    • FitzPatrick, David R;
    • Pié, Juan
    Publication type:
    Article
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    Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 3, p. 271, doi. 10.1038/ejhg.2011.175
    By:
    • Braunholz, Diana;
    • Hullings, Melanie;
    • Gil-Rodríguez, María Concepcion;
    • Fincher, Christopher T;
    • Mallozzi, Mark B;
    • Loy, Elizabeth;
    • Albrecht, Melanie;
    • Kaur, Maninder;
    • Limon, Janusz;
    • Rampuria, Abhinav;
    • Clark, Dinah;
    • Kline, Antonie;
    • Dalski, Andreas;
    • Eckhold, Juliane;
    • Tzschach, Andreas;
    • Hennekam, Raoul;
    • Gillessen-Kaesbach, Gabriele;
    • Wierzba, Jolanta;
    • Krantz, Ian D;
    • Deardorff, Matthew A
    Publication type:
    Article
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    Cohesinopathies of a Feather Flock Together.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004036
    By:
    • Skibbens, Robert V.;
    • Colquhoun, Jennifer M.;
    • Green, Megan J.;
    • Molnar, Cody A.;
    • Sin, Danielle N.;
    • Sullivan, Brian J.;
    • Tanzosh, Eden E.
    Publication type:
    Article
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    Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

    Published in:
    Journal of Clinical Investigation, 2015, v. 125, n. 2, p. 636, doi. 10.1172/JCI77435
    By:
    • Bo Yuan;
    • Pehlivan, Davut;
    • Karaca, Ender;
    • Patel, Nisha;
    • Wu-Lin Charng;
    • Gambin, Tomasz;
    • Gonzaga-Jauregui, Claudia;
    • Sutton, V. Reid;
    • Yesil, Gozde;
    • Bozdogan, Sevcan Tug;
    • Tos, Tulay;
    • Koparir, Asuman;
    • Koparir, Erkan;
    • Beck, Christine R.;
    • Shen Gu;
    • Aslan, Huseyin;
    • Yuregir, Ozge Ozalp;
    • Al Rubeaan, Khalid;
    • Alnaqeb, Dhekra;
    • Alshammari, Muneera J.
    Publication type:
    Article
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