![]() ![]() Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, et al.Defective myosin VIIA gene responsible for Usher syndrome type 1B. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, et al.Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. Kimberling WJ, Weston MD, Möller C, van Aarem A, Cremers CW, Sumegi J, Ing PS, Connolly C, Martini A, Milani M, et al.Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Sankila EM, Pakarinen L, Käriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A.Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Lewis RA, Otterud B, Stauffer D, Lalouel JM, Leppert M.Localization of Usher syndrome type II to chromosome 1q. Kimberling WJ, Weston MD, Möller C, Davenport SL, Shugart YY, Priluck IA, Martini A, Milani M, Smith RJ.A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Chaïb H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C.Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ.Localization of two genes for Usher syndrome type I to chromosome 11. Smith RJ, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJ, Jay M, Bird A, Reardon W, Guest M, et al.Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Keats BJ, Nouri N, Pelias MZ, Deininger PL, Litt M.Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred. Bonné-Tamir B, Korostishevsky M, Kalinsky H, Seroussi E, Beker R, Weiss S, Godel V.Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Kimberling WJ, Möller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, Reardon W, Weston MD, Kenyon JB, Grunkemeyer JA, et al.Genetic heterogeneity of Usher syndrome type 1 in French families. Larget-Piet D, Gerber S, Bonneau D, Rozet JM, Marc S, Ghazi I, Dufier JL, David A, Bitoun P, Weissenbach J, et al.A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frézal J, et al.Clinical findings in obligate carriers of type I Usher syndrome. Wagenaar M, ter Rahe B, van Aarem A, Huygen P, Admiraal R, Bleeker-Wagemakers E, Pinckers A, Kimberling W, Cremers C.Usher's syndrome type III: ENG findings in four affected and six unaffected siblings. Karjalainen S, Teräsvirta M, Kärjä J, Käriäinen H.Progressive hearing loss in Usher's syndrome. Karjalainen S, Pakarinen L, Teräsvirta M, Käriäinen H, Vartiainen E.Gorlin RJ, Tilsner TJ, Feinstein S, Duvall AJ., 3rd Usher's syndrome type III. ![]() Usher syndrome: clinical findings and gene localization studies. Kimberling WJ, Möller CG, Davenport SL, Lund G, Grissom TJ, Priluck I, White V, Weston MD, Biscone-Halterman K, Brookhouser PE.Retinitis pigmentosa combined with congenital deafness with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study. Links to PubMed are also available for Selected References. Get a printable copy (PDF file) of the complete article (1.2M), or click on a page image below to browse page by page. Full textįull text is available as a scanned copy of the original print version. As regards the remaining six USH1 families, the linkage analysis did not provide conclusive data, although two of them show slight linkage to markers located on chromosome 3q (Zmax=1.880, theta=0.000 for D3S1279), the same location that had previously been assigned to some USH3 families. It is important to note that one of our families linked to the USH1B locus shows interesting intrafamilial clinical variability. Our findings suggest considerable genetic heterogeneity in the Spanish USH1 population. Of 18 USH1 families studied by linkage analysis, 12 (67%) showed significant lod score values for locus D11S527 (Zmax=14.032, theta=0.000) situated on chromosome 11q. With regard to Usher type I (USH1), several subtypes have been described, the most frequent being USH1B located on chromosome 11q13.5. The disorder is clinically and genetically heterogeneous. Usher syndrome (USH) is an autosomal recessive hereditary disorder characterised by congenital sensorineural hearing loss and gradual visual impairment secondary to retinitis pigmentosa (RP). ![]()
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