PMC Articles for MedGen (Select 1805371) - PMC

Select item 103316371.

Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome

Lucia Belen Musumano, Virginia Fancello, Laura Negossi, Elisa Ballardini, Stefania Bigoni, Andrea Ciorba

J Int Adv Otol. 2023 May; 19(3): 260–262. Published online 2023 May 1. doi: 10.5152/iao.2023.22877

PMCID:: PMC10331637

Select item 67987062.

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort

Akiko Maeda-Katahira, Natsuko Nakamura, Takaaki Hayashi, Satoshi Katagiri, Satoko Shimizu, Hisao Ohde, Tatsuo Matsunaga, Kimitaka Kaga, Tadashi Nakano, Shuhei Kameya, Tomokazu Matsuura, Kaoru Fujinami, Takeshi Iwata, Kazushige Tsunoda

Mol Vis. 2019; 25: 559–573. Published online 2019 Oct 5.

PMCID:: PMC6798706

Article PDF–3.4M

Select item 35754783.

Diaphanous homolog 3 (Diap3) Overexpression Causes Progressive Hearing Loss and Inner Hair Cell Defects in a Transgenic Mouse Model of Human Deafness

Cynthia J. Schoen, Margit Burmeister, Marci M. Lesperance

PLoS One. 2013; 8(2): e56520. Published online 2013 Feb 18. doi: 10.1371/journal.pone.0056520

PMCID:: PMC3575478

Article PDF–1.4M

Select item 29221804.

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

Cynthia J. Schoen, Sarah B. Emery, Marc C. Thorne, Hima R. Ammana, Elżbieta Śliwerska, Jameson Arnett, Michael Hortsch, Frances Hannan, Margit Burmeister, Marci M. Lesperance

Proc Natl Acad Sci U S A. 2010 Jul 27; 107(30): 13396–13401. Published online 2010 Jul 12. doi: 10.1073/pnas.1003027107

PMCID:: PMC2922180

Article PDF–294K

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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