Found: 7

Select item for more details and to access through your institution.

  • PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1030, doi. 10.1002/ajmg.a.61127
    By:
    • Bonnemason‐Carrere, Paul;
    • Morice‐Picard, Fanny;
    • Pennamen, Perrine;
    • Arveiler, Benoit;
    • Fergelot, Patricia;
    • Goizet, Cyril;
    • Hellegouarch, Mélanie;
    • Lacombe, Didier;
    • Plaisant, Claudio;
    • Raclet, Virginie;
    • Rooryck, Caroline;
    • Lasseaux, Eulalie;
    • Trimouille, Aurélien
    Publication type:
    Article

  • CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-09006-2
    By:
    • Cullot, Grégoire;
    • Boutin, Julian;
    • Toutain, Jérôme;
    • Prat, Florence;
    • Pennamen, Perrine;
    • Rooryck, Caroline;
    • Teichmann, Martin;
    • Rousseau, Emilie;
    • Lamrissi-Garcia, Isabelle;
    • Guyonnet-Duperat, Véronique;
    • Bibeyran, Alice;
    • Lalanne, Magalie;
    • Prouzet-Mauléon, Valérie;
    • Turcq, Béatrice;
    • Ged, Cécile;
    • Blouin, Jean-Marc;
    • Richard, Emmanuel;
    • Dabernat, Sandrine;
    • Moreau-Gaudry, François;
    • Bedel, Aurélie
    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

  • Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction.

    Published in:
    2018
    By:
    • Brun, Stephanie;
    • Pennamen, Perrine;
    • Mattuizzi, Aurelien;
    • Coatleven, Frederic;
    • Vuillaume, Marie Laure;
    • Lacombe, Didier;
    • Arveiler, Benoit;
    • Toutain, Jerome;
    • Rooryck, Caroline
    Publication type:
    journal article

  • Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1615, doi. 10.1002/humu.24067
    By:
    • Abdelfattah, Fatima;
    • Kariminejad, Ariana;
    • Kahlert, Anne‐Karin;
    • Morrison, Patrick J.;
    • Gumus, Evren;
    • Mathews, Katherine D.;
    • Darbro, Benjamin W.;
    • Amor, David J.;
    • Walsh, Maie;
    • Sznajer, Yves;
    • Weiß, Luisa;
    • Weidensee, Sabine;
    • Chitayat, David;
    • Shannon, Patrick;
    • Bermejo‐Sánchez, Eva;
    • Riaño‐Galán, Isolina;
    • Hayes, Ian;
    • Poke, Gemma;
    • Rooryck, Caroline;
    • Pennamen, Perrine
    Publication type:
    Article

  • Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome.

    Published in:
    Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 132, doi. 10.1111/pcmr.12915
    By:
    • Pennamen, Perrine;
    • Tingaud‐Sequeira, Angèle;
    • Michaud, Vincent;
    • Morice‐Picard, Fanny;
    • Plaisant, Claudio;
    • Vincent‐Delorme, Catherine;
    • Giuliano, Fabienne;
    • Azarnoush, Saba;
    • Capri, Yline;
    • Marçon, Carolina;
    • Lacombe, Didier;
    • Lasseaux, Eulalie;
    • Arveiler, Benoît
    Publication type:
    Article

  • Molecular characterization of a series of 990 index patients with albinism.

    Published in:
    Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 466, doi. 10.1111/pcmr.12688
    By:
    • Lasseaux, Eulalie;
    • Plaisant, Claudio;
    • Michaud, Vincent;
    • Pennamen, Perrine;
    • Trimouille, Aurelien;
    • Gaston, Laetitia;
    • Monfermé, Solène;
    • Lacombe, Didier;
    • Rooryck, Caroline;
    • Morice‐Picard, Fanny;
    • Arveiler, Benoît
    Publication type:
    Article