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Items: 2

Select item 40493011.

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

Alexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, Mitali Patel, Gina Jimenez, Hui Liu, Biju Thomas, Mellisa Dixon, Robert A. Hirst, Andrew Rutman, Thomas Burgoyne, Christopher Williams, Juliet Scully, Florence Bolard, Jean-Jacques Lafitte, Philip L. Beales, Claire Hogg, Pinfen Yang, Eddie M.K. Chung, Richard D. Emes, Christopher O'Callaghan, UK10K, Patrice Bouvagnet, Hannah M. Mitchison

Hum Mol Genet. 2014 Jul 1; 23(13): 3362–3374. Published online 2014 Feb 11. doi: 10.1093/hmg/ddu046

PMCID:: PMC4049301

Abstract Article PDF–1.1M

Select item 37699242.

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Guy Montantin, Philippe Duquesnoy, William Piterboth, Daniel Amram, Laurence Bassinet, Julie Beucher, Nicole Beydon, Eric Deneuville, Véronique Houdouin, Hubert Journel, Jocelyne Just, Nadia Nathan, Aline Tamalet, Nathalie Collot, Ludovic Jeanson, Morgane Le Gouez, Benoit Vallette, Anne-Marie Vojtek, Ralph Epaud, André Coste, Annick Clement, Bruno Housset, Bruno Louis, Estelle Escudier, Serge Amselem

Am J Hum Genet. 2013 Sep 5; 93(3): 561–570. doi: 10.1016/j.ajhg.2013.07.013