Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

57 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC; DOOFNL Consortium; Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H. Wesdorp M, et al. Among authors: beynon aj. Hum Genet. 2018 May;137(5):389-400. doi: 10.1007/s00439-018-1880-5. Epub 2018 May 12. Hum Genet. 2018. PMID: 29754270 Free PMC article.
Cervical dystonia after ear surgery.
van Gaalen J, Pennings RJ, Beynon AJ, Münchau A, Bloem BR, van de Warrenburg BP. van Gaalen J, et al. Among authors: beynon aj. Parkinsonism Relat Disord. 2012 Jun;18(5):669-71. doi: 10.1016/j.parkreldis.2011.10.004. Epub 2011 Oct 22. Parkinsonism Relat Disord. 2012. PMID: 22018913
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H. Schraders M, et al. Among authors: beynon aj. Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012. Am J Hum Genet. 2012. PMID: 23122587 Free PMC article.
Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.
Balemans MC, Kasri NN, Kopanitsa MV, Afinowi NO, Ramakers G, Peters TA, Beynon AJ, Janssen SM, van Summeren RC, Eeftens JM, Eikelenboom N, Benevento M, Tachibana M, Shinkai Y, Kleefstra T, van Bokhoven H, Van der Zee CE. Balemans MC, et al. Among authors: beynon aj. Hum Mol Genet. 2013 Mar 1;22(5):852-66. doi: 10.1093/hmg/dds490. Epub 2012 Nov 21. Hum Mol Genet. 2013. PMID: 23175442
Similar phenotypes caused by mutations in OTOG and OTOGL.
Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ. Oonk AM, et al. Among authors: beynon aj. Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008. Ear Hear. 2014. PMID: 24378291 Free PMC article.
Vestibular function and temporal bone imaging in DFNB1.
Oonk AM, Beynon AJ, Peters TA, Kunst HP, Admiraal RJ, Kremer H, Verbist B, Pennings RJ. Oonk AM, et al. Among authors: beynon aj. Hear Res. 2015 Sep;327:227-34. doi: 10.1016/j.heares.2015.07.009. Epub 2015 Jul 15. Hear Res. 2015. PMID: 26188104
57 results