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Displaying 4 results.
    • Speech
    DNAH3: Characterization of the sequence and mutation search in patients with Primary Ciliary Dyskinesia
    Blouin, JL Gehrig, C Armengot, M Rutishauser, M Jorissen, M. Jeganathan, D Bartoloni, L Rossier, C Duriaux-Sail, G Scamuffa, N Mitchison, H DeLozier-Blanchet, CD Antonarakis, SE (2002) European-Society-of-Human-Genetics European Human Genetics Conference in Conjunction With European Meeting on Psychosocial Aspects of Genetics — STRASBOURG(France)
    • Journal article
    Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity
    Blouin, JL Meeks, M Radhakrishna, U Sainsbury, A Gehring, C Sail, GD Bartoloni, L Dombi, V O'Rawe, A Walne, A Chung, E Afzelius, BA Armengot, M Jorissen, M. Schidlow, DV Van Maldergem, L. Walt, H Gardiner, RM Probst, D Guerne, PA. Delozier-Blanchet, CD Antonarakis, SE (2000) European Journal of Human Genetics — Vol. 8, no. 2, p. 109-118 (2000)
    • Journal article
    Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
    Bartoloni, L Blouin, JL Pan, YZ Gehrig, C Maiti, AK Scamuffa, N Rossier, C Jorissen, M. Armengot, M Meeks, M Mitchison, HM Chung, EMK Delozier-Blanchet, CD Craigen, WJ Antonarakis, SE (2002) National Academy of Sciences. Proceedings — Vol. 99, no. 16, p. 10282-10286 (2002)
    • Journal article
    Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia
    Bartoloni, L Blouin, JL Maiti, AK Sainsbury, A Rossier, C Gehrig, C She, JX Marron, MP Lander, ES Meeks, M Chung, E Armengot, M Jorissen, M. Scott, HS Delozier-Blanchet, CD Gardiner, RM Antonarakis, SE (2001) Genomics — Vol. 72, no. 1, p. 21-33 (2001)