PMC Articles for MedGen (Select 868053) - PMC

Select item 106451531.

Variability in the Results of Vestibular Assessment in Patients with Genetically Confirmed Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

María Fernandez-Rueda, Alfredo García-Fernández, Joaquín Jesús De Vergas-Gutiérrez

J Int Adv Otol. 2023 Sep; 19(5): 383–387. Published online 2023 Sep 1. doi: 10.5152/iao.2023.22982

PMCID:: PMC10645153

Abstract Article PDF–1.6M

Select item 97657592.

TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse

Mary C. Whitman, Nicole M. Gilette, Jessica L. Bell, Seoyoung Kim, Max Tischfield, Elizabeth C. Engle

Dev Biol. Author manuscript; available in PMC 2022 Dec 20.

Published in final edited form as: Dev Biol. 2022 Oct; 490: 126–133. Published online 2022 Aug 6. doi: 10.1016/j.ydbio.2022.07.010

PMCID:: PMC9765759

Abstract Article PDF–2.1M

Select item 59133753.

The GPSM2/LGN GoLoco motifs are essential for hearing

Yoni Bhonker, Amal Abu-Rayyan, Kathy Ushakov, Liat Amir-Zilberstein, Shaked Shivatzki, Ofer Yizhar-Barnea, Tal Elkan-Miller, Einav Tayeb-Fligelman, Sun Myoung Kim, Meytal Landau, Moien Kanaan, Ping Chen, Fumio Matsuzaki, David Sprinzak, Karen B. Avraham

Mamm Genome. Author manuscript; available in PMC 2018 Apr 24.

Published in final edited form as: Mamm Genome. 2016 Feb; 27(1-2): 29–46. Published online 2015 Dec 11. doi: 10.1007/s00335-015-9614-7

PMCID:: PMC5913375

Abstract Article PDF–2.3M

Select item 53862984.

Disruption of SorCS2 reveals differences in the regulation of stereociliary bundle formation between hair cell types in the inner ear

Andrew Forge, Ruth R. Taylor, Sally J. Dawson, Michael Lovett, Daniel J. Jagger

PLoS Genet. 2017 Mar; 13(3): e1006692. Published online 2017 Mar 27. doi: 10.1371/journal.pgen.1006692

PMCID:: PMC5386298

Abstract Article PDF–6.5M

Select item 44570335.

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger

Dis Model Mech. 2015 Jun 1; 8(6): 527–541. doi: 10.1242/dmm.019083

PMCID:: PMC4457033

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