Found: 6

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  • ELN gene triplication responsible for familial supravalvular aortic aneurysm.

    Published in:
    Cardiology in the Young, 2015, v. 25, n. 4, p. 712, doi. 10.1017/S1047951114000766
    By:
    • Guemann, Anne-Sophie;
    • Andrieux, Joris;
    • Petit, Florence;
    • Halimi, Emmanuel;
    • Bouquillon, Sonia;
    • Manouvrier-Hanu, Sylvie;
    • Van De Kamp, Jiddeke;
    • Boileau, Catherine;
    • Hanna, Nadine;
    • Jondeau, Guillaume;
    • Vaksmann, Guy;
    • Houfflin-Debarge, Veronique;
    • Holder-Espinasse, Muriel
    Publication type:
    Article

  • Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230
    By:
    • El Khattabi, Laïla;
    • Guimiot, Fabien;
    • Pipiras, Eva;
    • Andrieux, Joris;
    • Baumann, Clarisse;
    • Bouquillon, Sonia;
    • Delezoide, Anne-Lise;
    • Delobel, Bruno;
    • Demurger, Florence;
    • Dessuant, Hélène;
    • Drunat, Séverine;
    • Dubourg, Christelle;
    • Dupont, Céline;
    • Faivre, Laurence;
    • Holder-Espinasse, Muriel;
    • Jaillard, Sylvie;
    • Journel, Hubert;
    • Lyonnet, Stanislas;
    • Malan, Valérie;
    • Masurel, Alice
    Publication type:
    Article

  • Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 3, p. 234, doi. 10.1111/cge.14525
    By:
    • Billes, Alexis;
    • Pujalte, Mathilde;
    • Jedraszak, Guillaume;
    • Amsallem, Daniel;
    • Boudry‐Labis, Elise;
    • Boute, Odile;
    • Bouquillon, Sonia;
    • Brischoux‐Boucher, Elise;
    • Callier, Patrick;
    • Coutton, Charles;
    • Denizet, Anne‐Laude Avice;
    • Dieterich, Klaus;
    • Kuentz, Paul;
    • Lespinasse, James;
    • Mazel, Benoît;
    • Morin, Gilles;
    • Amram, Florence;
    • Pennamen, Perrine;
    • Rio, Marlène;
    • Piard, Juliette
    Publication type:
    Article

  • Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

    Published in:
    Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0253-9
    By:
    • Srebniak, Malgorzata I.;
    • van Zutven, Laura J. C. M.;
    • Petit, Florence;
    • Bouquillon, Sonia;
    • van Heel, Ilse P. J.;
    • Knapen, Maarten F. C. M.;
    • Cornette, Jerome M. J.;
    • Kremer, Andreas;
    • Van Opstal, Diane;
    • Diderich, Karin E. M.
    Publication type:
    Article

  • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

    Published in:
    Nature, 2011, v. 478, n. 7367, p. 97, doi. 10.1038/nature10406
    By:
    • Jacquemont, Sébastien;
    • Reymond, Alexandre;
    • Zufferey, Flore;
    • Harewood, Louise;
    • Walters, Robin G.;
    • Kutalik, Zoltán;
    • Martinet, Danielle;
    • Shen, Yiping;
    • Valsesia, Armand;
    • Beckmann, Noam D.;
    • Thorleifsson, Gudmar;
    • Belfiore, Marco;
    • Bouquillon, Sonia;
    • Campion, Dominique;
    • de Leeuw, Nicole;
    • de Vries, Bert B. A.;
    • Esko, Tõnu;
    • Fernandez, Bridget A.;
    • Fernández-Aranda, Fernando;
    • Fernández-Real, José Manuel
    Publication type:
    Article

  • Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.

    Published in:
    Neurogenetics, 2020, v. 21, n. 1, p. 67, doi. 10.1007/s10048-019-00599-w
    By:
    • Smol, Thomas;
    • Thuillier, Caroline;
    • Boudry-Labis, Elise;
    • Dieux-Coeslier, Anne;
    • Duban-Bedu, Bénédicte;
    • Caumes, Roseline;
    • Bouquillon, Sonia;
    • Manouvrier-Hanu, Sylvie;
    • Roche-Lestienne, Catherine;
    • Ghoumid, Jamal
    Publication type:
    Article