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Page 1
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: emery sb. 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.
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: emery sb. 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.
Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).
Grati FR, Lesperance MM, De Toffol S, Chinetti S, Selicorni A, Emery S, Grimi B, Dulcetti F, Malvestiti B, Taylor J, Milani S, Ruggeri AM, Maggi F, Simoni G. Grati FR, et al. Am J Med Genet A. 2009 May;149A(5):906-13. doi: 10.1002/ajmg.a.32754. Am J Med Genet A. 2009. PMID: 19353688 Free 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. 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.
Measurement of B --> K*gamma branching fractions and charge asymmetries.
Aubert B, Boutigny D, Gaillard JM, Hicheur A, Karyotakis Y, Lees JP, Robbe P, Tisserand V, Palano A, Chen GP, Chen JC, Qi ND, Rong G, Wang P, Zhu YS, Eigen G, Reinertsen PL, Stugu B, Abbott B, Abrams GS, Borgland AW, Breon AB, Brown DN, Button-Shafer J, Cahn RN, Clark AR, Gill MS, Gritsan AV, Groysman Y, Jacobsen RG, Kadel RW, Kadyk J, Kerth LT, Kluth S, Kolomensky YG, Kral JF, LeClerc C, Levi ME, Liu T, Lynch G, Meyer AB, Momayezi M, Oddone PJ, Perazzo A, Pripstein M, Roe NA, Romosan A, Ronan MT, Shelkov VG, Telnov AV, Wenzel WA, Zisman MS, Bright-Thomas PG, Harrison TJ, Hawkes CM, Knowles DJ, O'Neale SW, Penny RC, Watson AT, Watson NK, Deppermann T, Goetzen K, Koch H, Krug J, Kunze M, Lewandowski B, Peters K, Schmuecker H, Steinke M, Andress JC, Barlow NR, Bhimji W, Chevalier N, Clark PJ, Cottingham WN, De Groot N, Dyce N, Foster B, McFall JD, Wallom D, Wilson FF, Abe K, Hearty C, Mattison TS, McKenna JA, Thiessen D, Jolly S, McKemey AK, Tinslay J, Blinov VE, Bukin AD, Bukin DA, Buzykaev AR, Golubev VB, Ivanchenko VN, Korol AA, Kravchenko EA, Onuchin AP, Salnikov AA, Serednyakov SI, Skovpen YI, Telnov VI, Yushkov AN, Best D, Lankford AJ, Mandelkern M, McMahon S, Stoker DP, Ahsan… See abstract for full author list ➔ Aubert B, et al. Phys Rev Lett. 2002 Mar 11;88(10):101805. doi: 10.1103/PhysRevLett.88.101805. Epub 2002 Feb 26. Phys Rev Lett. 2002. PMID: 11909345 Free article.
Measurement of CP-violating asymmetries in B0 decays to CP eigenstates.
Aubert B, Boutigny D, De Bonis I, Gaillard JM, Jeremie A, Karyotakis Y, Lees JP, Robbe P, Tisserand V, Palano A, Chen GP, Chen JC, Qi ND, Rong G, Wang P, Zhu YS, Eigen G, Reinertsen PL, Stugu B, Abbott B, Abrams GS, Borgland AW, Breon AB, Brown DN, Button-Shafer J, Cahn RN, Clark AR, Dardin S, Day C, Dow SF, Elioff T, Fan Q, Gaponenko I, Gill MS, Goozen FR, Gowdy SJ, Gritsan A, Groysman Y, Jacobsen RG, Jared RC, Kadel RW, Kadyk J, Karcher A, Kerth LT, Kipnis I, Kluth S, Kolomensky YG, Kral JF, Lafever R, LeClerc C, Levi ME, Lewis SA, Lionberger C, Liu T, Long M, Lynch G, Marino M, Marks K, Meyer AB, Mokhtarani A, Momayezi M, Nyman M, Oddone PJ, Ohnemus J, Oshatz D, Patton S, Perazzo A, Peters C, Pope W, Pripstein M, Quarrie DR, Rasson JE, Roe NA, Romosan A, Ronan MT, Shelkov VG, Stone R, Telnov AV, von der Lippe H, Weber T, Wenzel WA, Zisman MS, Bright-Thomas PG, Harrison TJ, Hawkes CM, Kirk A, Knowles DJ, O'Neale SW, Watson AT, Watson NK, Deppermann T, Koch H, Krug J, Kunze M, Lewandowski B, Peters K, Schmuecker H, Steinke M, Andress JC, Barlow NR, Bhimji W, Chevalier N, Clark PJ, Cottingham WN, De Groot N, Dyce N, Foster B, Mass A, McFall JD, Wallom D, Wilson FF, Abe K, Hearty C… See abstract for full author list ➔ Aubert B, et al. Phys Rev Lett. 2001 Mar 19;86(12):2515-22. doi: 10.1103/PhysRevLett.86.2515. Phys Rev Lett. 2001. PMID: 11289970 Free article.
264 results