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

62 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.
Van Den Bogaert K, De Leenheer EM, Chen W, Lee Y, Nürnberg P, Pennings RJ, Vanderstraeten K, Thys M, Cremers CW, Smith RJ, Van Camp G. Van Den Bogaert K, et al. Among authors: de leenheer em. J Med Genet. 2004 Jun;41(6):450-3. doi: 10.1136/jmg.2004.018671. J Med Genet. 2004. PMID: 15173231 Free PMC article. No abstract available.
The phenotype of the first otosclerosis family linked to OTSC5.
Pauw RJ, De Leenheer EM, Van Den Bogaert K, Huygen PL, Van Camp G, Joosten FB, Cremers CW. Pauw RJ, et al. Among authors: de leenheer em. Otol Neurotol. 2006 Apr;27(3):308-15. doi: 10.1097/00129492-200604000-00004. Otol Neurotol. 2006. PMID: 16639267
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H. Schrauwen I, et al. Among authors: de leenheer emr. Genet Med. 2019 May;21(5):1199-1208. doi: 10.1038/s41436-018-0300-5. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287925 Free article.
The DFNA10 phenotype.
De Leenheer EM, Huygen PL, Wayne S, Smith RJ, Cremers CW. De Leenheer EM, et al. Ann Otol Rhinol Laryngol. 2001 Sep;110(9):861-6. doi: 10.1177/000348940111000910. Ann Otol Rhinol Laryngol. 2001. PMID: 11558763
Clinical features of DFNA5.
De Leenheer EM, van Zuijlen DA, Van Laer L, Van Camp G, Huygen PL, Huizing EH, Cremers CW. De Leenheer EM, et al. Adv Otorhinolaryngol. 2002;61:53-9. doi: 10.1159/000066800. Adv Otorhinolaryngol. 2002. PMID: 12408063 No abstract available.
62 results