PMC Articles for MedGen (Select 331222) - PMC

Select item 85420861.

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I—A Cross-sectional Study of Hearing Function in 111 Carriers

Sebastien P. F. JanssensdeVarebeke, Julie Moyaert, Erik Fransen, Britt Bulen, Celine Neesen, Katrien Devroye, Raymond van de Berg, Ronald J. E. Pennings, Vedat Topsakal, Olivier Vanderveken, Guy Van Camp, Vincent Van Rompaey

Ear Hear. 2021 Nov-Dec; 42(6): 1508–1524. Published online 2021 Oct 22. doi: 10.1097/AUD.0000000000001099

PMCID:: PMC8542086

Article PDF–1.4M

Select item 77338332.

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Sophie Boucher, Fabienne Wong Jun Tai, Sedigheh Delmaghani, Andrea Lelli, Amrit Singh-Estivalet, Typhaine Dupont, Magali Niasme-Grare, Vincent Michel, Nicolas Wolff, Amel Bahloul, Yosra Bouyacoub, Didier Bouccara, Bernard Fraysse, Olivier Deguine, Lionel Collet, Hung Thai-Van, Eugen Ionescu, Jean-Louis Kemeny, Fabrice Giraudet, Jean-Pierre Lavieille, Arnaud Devèze, Anne-Laure Roudevitch-Pujol, Christophe Vincent, Christian Renard, Valérie Franco-Vidal, Claire Thibult-Apt, Vincent Darrouzet, Eric Bizaguet, Arnaud Coez, Hugues Aschard, Nicolas Michalski, Gaëlle M. Lefevre, Anne Aubois, Paul Avan, Crystel Bonnet, Christine Petit

Proc Natl Acad Sci U S A. 2020 Dec 8; 117(49): 31278–31289. Published online 2020 Nov 23. doi: 10.1073/pnas.2010782117

PMCID:: PMC7733833

Article PDF–1.0M

Select item 35672773.

Genetic Basis of Y-Linked Hearing Impairment

Qiuju Wang, Yali Xue, Yujun Zhang, Quan Long, Asan, Fengtang Yang, Daniel J. Turner, Tomas Fitzgerald, Bee Ling Ng, Yali Zhao, Yuan Chen, Qingjie Liu, Weiyan Yang, Dongyi Han, Michael A. Quail, Harold Swerdlow, John Burton, Ciara Fahey, Zemin Ning, Matthew E. Hurles, Nigel P. Carter, Huanming Yang, Chris Tyler-Smith

Am J Hum Genet. 2013 Feb 7; 92(2): 301–306. doi: 10.1016/j.ajhg.2012.12.015

PMCID:: PMC3567277

Article PDF–674K

Select item 28425124.

Multi-system neurological disease is common in patients with OPA1 mutations

P. Yu-Wai-Man, P.G. Griffiths, G.S. Gorman, C.M. Lourenco, A.F. Wright, M. Auer-Grumbach, A. Toscano, O. Musumeci, M.L. Valentino, L. Caporali, C. Lamperti, C.M. Tallaksen, P. Duffey, J. Miller, R.G. Whittaker, M.R. Baker, M.J. Jackson, M.P. Clarke, B. Dhillon, B. Czermin, J.D. Stewart, G. Hudson, P. Reynier, D. Bonneau, W. Marques, Jr, G. Lenaers, R. McFarland, R.W. Taylor, D.M. Turnbull, M. Votruba, M. Zeviani, V. Carelli, L.A. Bindoff, R. Horvath, P. Amati-Bonneau, P.F. Chinnery

Brain. 2010 Mar; 133(3): 771–786. Published online 2010 Feb 15. doi: 10.1093/brain/awq007

PMCID:: PMC2842512

Article PDF–667K

Select item 22591175.

Human cytomegalovirus (HCMV) and hearing impairment: Infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 - both involved in dominantly inherited, sensorineural, hearing impairment

Mona Nystad, Toril Fagerheim, Vigdis Brox, Elizabeth A. Fortunato, Øivind Nilssen

Mutat Res. Author manuscript; available in PMC 2008 Jul 1.

Published in final edited form as: Mutat Res. 2008 Jan 1; 637(1-2): 56–65. Published online 2007 Jul 25. doi: 10.1016/j.mrfmmm.2007.07.009

PMCID:: PMC2259117

Article PDF–886K

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