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Page 1
Characterization of a stapes ankylosis family with a NOG mutation.
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Gebarski SS, Lesperance MM. Brown DJ, et al. Among authors: lesperance mm. Otol Neurotol. 2003 Mar;24(2):210-5. doi: 10.1097/00129492-200303000-00014. Otol Neurotol. 2003. PMID: 12621334
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.
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
Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder.
Quesnel AM, Nadol JB Jr, Nielsen GP, Curtin HD, Lesperance MM. Quesnel AM, et al. Among authors: lesperance mm. Otol Neurotol. 2015 Dec;36(10):1651-6. doi: 10.1097/MAO.0000000000000861. Otol Neurotol. 2015. PMID: 26474326 Free PMC article.
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.
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM. Brown DJ, et al. Among authors: lesperance mm. Am J Hum Genet. 2002 Sep;71(3):618-24. doi: 10.1086/342067. Epub 2002 Jun 27. Am J Hum Genet. 2002. PMID: 12089654 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.
62 results