Pauw RJ - Search Results

1

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.

Collin RW, de Heer AM, Oostrik J, Pauw RJ, Plantinga RF, Huygen PL, Admiraal R, de Brouwer AP, Strom TM, Cremers CW, Kremer H. Collin RW, et al. Among authors: pauw rj. Eur J Hum Genet. 2008 Dec;16(12):1430-6. doi: 10.1038/ejhg.2008.110. Epub 2008 Jun 25. Eur J Hum Genet. 2008. PMID: 18575463

2

Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.

de Heer AR, Pauw RJ, Huygen PL, Collin RW, Kremer H, Cremers CW. de Heer AR, et al. Among authors: pauw rj. Audiol Neurootol. 2009;14(3):153-62. doi: 10.1159/000171477. Epub 2008 Nov 13. Audiol Neurootol. 2009. PMID: 19005249

3

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

Collin RW, Chellappa R, Pauw RJ, Vriend G, Oostrik J, van Drunen W, Huygen PL, Admiraal R, Hoefsloot LH, Cremers FP, Xiang M, Cremers CW, Kremer H. Collin RW, et al. Among authors: pauw rj. Hum Mutat. 2008 Apr;29(4):545-54. doi: 10.1002/humu.20693. Hum Mutat. 2008. PMID: 18228599 Free PMC article.

4

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.

Pauw RJ, Collin RW, Huygen PL, Hoefsloot LH, Kremer H, Cremers CW. Pauw RJ, et al. Audiol Neurootol. 2007;12(2):77-84. doi: 10.1159/000097794. Epub 2006 Dec 6. Audiol Neurootol. 2007. PMID: 17264471

5

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Pauw RJ, Huygen PL, Collin RW, Cruysberg JR, Hoefsloot LH, Kremer H, Cremers CW. Pauw RJ, et al. Ann Otol Rhinol Laryngol. 2007 May;116(5):349-57. doi: 10.1177/000348940711600506. Ann Otol Rhinol Laryngol. 2007. PMID: 17561763

6

Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.

Pauw RJ, Huygen PL, Colditz GM, Cremers CW. Pauw RJ, et al. Ann Otol Rhinol Laryngol. 2011 Jun;120(6):414-21. doi: 10.1177/000348941112000612. Ann Otol Rhinol Laryngol. 2011. PMID: 21774451

7

Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7.

Pauw RJ, Huygen PL, Thys M, Van Camp G, Joosten FB, Cremers CW. Pauw RJ, et al. Am J Med Genet A. 2007 Jul 15;143A(14):1613-22. doi: 10.1002/ajmg.a.31807. Am J Med Genet A. 2007. PMID: 17568406

8

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. Otol Neurotol. 2006 Apr;27(3):308-15. doi: 10.1097/00129492-200604000-00004. Otol Neurotol. 2006. PMID: 16639267

9

Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

Bischoff AM, Pauw RJ, Huygen PL, Aandekerk AL, Kremer H, Cremers CW, Cruysberg JR. Bischoff AM, et al. Among authors: pauw rj. Am J Ophthalmol. 2007 May;143(5):847-852. doi: 10.1016/j.ajo.2007.01.037. Epub 2007 Mar 19. Am J Ophthalmol. 2007. PMID: 17368553

10

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

Pauw RJ, van Drunen FJ, Collin RW, Huygen PL, Kremer H, Cremers CW. Pauw RJ, et al. Arch Otolaryngol Head Neck Surg. 2008 Mar;134(3):294-300. doi: 10.1001/archotol.134.3.294. Arch Otolaryngol Head Neck Surg. 2008. PMID: 18347256

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

31 results

Search Page

Filters