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  5. Hardelin, Jean-Pierre; Levilliers, Jacqueline; Blanchard, Stéphane; Carel, Jean-Claude; Leutenegger, Marc; Pinard-Bertelletto, Jean-Pierre; Bouloux, Pierre; Petit, Christine

    Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome

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    Oxford University Press (OUP), 1993

    Published in: Human Molecular Genetics, 2 (1993) 4, Seite 373-377

  6. Wild, Damian; Theodoraki, Aikaterini; Kurzawinski, Tom R.; Bomanji, Jamshed; Reubi, Jean Claude; Khan, Rehman; Bouloux, Pierre; Khoo, Bernard

    ‘Running on empty’

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    Springer Science and Business Media LLC, 2010

    Published in: European Journal of Nuclear Medicine and Molecular Imaging, 37 (2010) 7, Seite 1439-1440

  7. Hardelin, Jean-Pierre; Levilliers, Jacqueline; del Castillo, Ignacio; Cohen-Salmon, Martine; Legouis, Renaud; Blanchard, Stephane; Compain, Sylvie; Bouloux, Pierre; Kirk, Jeremy; Moraine, Claude; Chaussain, Jean-Louis; Weissenbach, Jean; Petit, Christine

    X Chromosome-Linked Kallmann Syndrome: Stop Mutations Validate the Candidate Gene

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    National Academy of Sciences of the United States of America, 1992

    Published in: Proceedings of the National Academy of Sciences of the United States of America, 89 (1992) 17, Seite 8190-8194

  8. Villanueva, Carine; Jacobson-Dickman, Elka; Xu, Cheng; Manouvrier, Sylvie; Dwyer, Andrew A.; Sykiotis, Gerasimos P.; Beenken, Andrew; Liu, Yang; Tommiska, Johanna; Hu, Youli; Tiosano, Dov; Gerard, Marion; Leger, Juliane; Drouin-Garraud, Valérie; Lefebvre, Hervé; Polak, Michel; Carel, Jean-Claude; Phan-Hug, Franziska; Hauschild, Michael; Plummer, Lacey; Rey, Jean-Pierre; Raivio, Taneli; Bouloux, Pierre; Sidis, Yisrael; [...]

    Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

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    Elsevier BV, 2015

    Published in: Genetics in Medicine, 17 (2015) 8, Seite 651-659