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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

127 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, van Essen AJ, Sijmons RH, Tilanus MA, van Nouhuys CE, Ayuso C, Hoefsloot LH, Cremers FP. Nikopoulos K, et al. Among authors: venselaar h. Hum Mutat. 2010 Jun;31(6):656-66. doi: 10.1002/humu.21250. Hum Mutat. 2010. PMID: 20340138
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Collin RW, et al. Among authors: venselaar h. Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008. Am J Hum Genet. 2008. PMID: 18179891 Free PMC article.
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H. Ahmed ZM, et al. Among authors: venselaar h. Nat Genet. 2008 Nov;40(11):1335-40. doi: 10.1038/ng.245. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953341 Free PMC article.
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI. Littink KW, et al. Among authors: venselaar h. Invest Ophthalmol Vis Sci. 2009 May;50(5):2344-50. doi: 10.1167/iovs.08-2553. Epub 2008 Dec 13. Invest Ophthalmol Vis Sci. 2009. PMID: 19074807
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP. Weegerink NJ, et al. Among authors: venselaar h. J Assoc Res Otolaryngol. 2011 Dec;12(6):753-66. doi: 10.1007/s10162-011-0282-3. Epub 2011 Jul 23. J Assoc Res Otolaryngol. 2011. PMID: 21786053 Free PMC article.
Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.
Khan MI, Ajmal M, Micheal S, Azam M, Hussain A, Shahzad A, Venselaar H, Bokhari H, de Wijs IJ, Hoefsloot LH, Waheed NK, Collin RW, den Hollander AI, Qamar R, Cremers FP. Khan MI, et al. Among authors: venselaar h. Clin Genet. 2013 Sep;84(3):290-3. doi: 10.1111/cge.12039. Epub 2012 Nov 7. Clin Genet. 2013. PMID: 23134348 No abstract available.
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Roosing S, et al. Among authors: venselaar h. Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15. Ophthalmology. 2013. PMID: 23499059
LRP5 variants may contribute to ADPKD.
Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP. Cnossen WR, et al. Among authors: venselaar h. Eur J Hum Genet. 2016 Feb;24(2):237-42. doi: 10.1038/ejhg.2015.86. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920554 Free PMC article.
127 results