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105 results

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Page 1
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. Mburu P, et al. Among authors: parkinson n. Nat Genet. 2003 Aug;34(4):421-8. doi: 10.1038/ng1208. Nat Genet. 2003. PMID: 12833159
Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media.
Parkinson N, Hardisty-Hughes RE, Tateossian H, Tsai HT, Brooker D, Morse S, Lalane Z, MacKenzie F, Fray M, Glenister P, Woodward AM, Polley S, Barbaric I, Dear N, Hough TA, Hunter AJ, Cheeseman MT, Brown SD. Parkinson N, et al. PLoS Genet. 2006 Oct 6;2(10):e149. doi: 10.1371/journal.pgen.0020149. PLoS Genet. 2006. PMID: 17029558 Free PMC article.
Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.
Mackenzie FE, Parker A, Parkinson NJ, Oliver PL, Brooker D, Underhill P, Lukashkina VA, Lukashkin AN, Holmes C, Brown SD. Mackenzie FE, et al. Among authors: parkinson nj. Genes Brain Behav. 2009 Oct;8(7):699-713. doi: 10.1111/j.1601-183X.2009.00514.x. Epub 2009 Jun 22. Genes Brain Behav. 2009. PMID: 19737145 Free PMC article.
A gene-driven ENU-based approach to generating an allelic series in any gene.
Quwailid MM, Hugill A, Dear N, Vizor L, Wells S, Horner E, Fuller S, Weedon J, McMath H, Woodman P, Edwards D, Campbell D, Rodger S, Carey J, Roberts A, Glenister P, Lalanne Z, Parkinson N, Coghill EL, McKeone R, Cox S, Willan J, Greenfield A, Keays D, Brady S, Spurr N, Gray I, Hunter J, Brown SD, Cox RD. Quwailid MM, et al. Among authors: parkinson n. Mamm Genome. 2004 Aug;15(8):585-91. doi: 10.1007/s00335-004-2379-z. Mamm Genome. 2004. PMID: 15457338
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.
Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sørensen SA, Gydesen S, Fisher EM, Collinge J. Skibinski G, et al. Among authors: parkinson nj. Nat Genet. 2005 Aug;37(8):806-8. doi: 10.1038/ng1609. Epub 2005 Jul 24. Nat Genet. 2005. PMID: 16041373
105 results