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Congenital cataracts in two siblings with Wolfram syndrome.
Mets RB, Emery SB, Lesperance MM, Mets MB. Mets RB, et al. Among authors: lesperance mm. Ophthalmic Genet. 2010 Dec;31(4):227-9. doi: 10.3109/13816810.2010.516056. Ophthalmic Genet. 2010. PMID: 21067485
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, Norris VW, Arnos KS, Bitner-Glindzicz M, Emery SB, Mets MB, Fagerheim T, Eriksson K, Hansen L, Bruhn H, Möller C, Lindholm S, Ensgaard S, Lesperance MM, Tranebjaerg L. Rendtorff ND, et al. Among authors: lesperance mm. Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28. Am J Med Genet A. 2011. PMID: 21538838 Free PMC article.
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL. Ruel J, et al. Among authors: lesperance mm. Am J Hum Genet. 2008 Aug;83(2):278-92. doi: 10.1016/j.ajhg.2008.07.008. Am J Hum Genet. 2008. PMID: 18674745 Free PMC article.
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.
Schoen CJ, Emery SB, Thorne MC, Ammana HR, Sliwerska E, Arnett J, Hortsch M, Hannan F, Burmeister M, Lesperance MM. Schoen CJ, et al. Among authors: lesperance mm. Proc Natl Acad Sci U S A. 2010 Jul 27;107(30):13396-401. doi: 10.1073/pnas.1003027107. Epub 2010 Jul 12. Proc Natl Acad Sci U S A. 2010. PMID: 20624953 Free PMC article.
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM. Bespalova IN, et al. Among authors: lesperance mm. Hum Mol Genet. 2001 Oct 15;10(22):2501-8. doi: 10.1093/hmg/10.22.2501. Hum Mol Genet. 2001. PMID: 11709537 Free PMC article.
62 results