Browsing Department of Medical and Molecular Genetics by Author "Katsanis, Nicholas"

Browsing Department of Medical and Molecular Genetics by Author "Katsanis, Nicholas"

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  • Gordon, Christopher T.; Weaver, K. Nicole; Zechi-Ceide, Roseli Maria; Madsen, Erik C.; Tavares, Andre L.P.; Oufadem, Myriam; Kurihara, Yukiko; Adameyko, Igor; Picard, Arnaud; Breton, Sylvain; Pierrot, Se´bastien; Biosse-Duplan, Martin; Voisin, Norine; Masson, Cecile; Bole-Feysot, Christine; Nitschke´, Marie-Ange; Lacombe, Didier; Guion-Almeida, Maria Leine; Moura, Priscila Padilha; Garib, Daniela Gamba; Munnich, Arnold; Ernfors, Patrik; Hufnagel, Robert B.; Hopkin, Robert J.; Kurihara, Hiroki; Saal, Howard M.; Weaver, David D.; Katsanis, Nicholas; Lyonnet, Stanislas; Golzio, Christelle; Clouthier, David E.; Amiel, Jeanne (Elsevier, 2015-04-02)
    The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment of mandibular identity during development of the first pharyngeal arch. We report four unrelated individuals with the syndrome ...
  • Helm, Benjamin M.; Willer, Jason R.; Sadeghpour, Azita; Golzio, Christelle; Crouch, Eric; Vergano, Samantha Schrier; Katsanis, Nicholas; Davis, Erica E. (BMC, 2017-07-19)
    BACKGROUND: The ciliopathies represent an umbrella group of >50 clinical entities that share both clinical features and molecular etiology underscored by structural and functional defects of the primary cilium. Despite ...

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