Pennings RJE - Search Results

1

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Robijn SMM, Smits JJ, Sezer K, Huygen PLM, Beynon AJ, van Wijk E, Kremer H, de Vrieze E, Lanting CP, Pennings RJE. Robijn SMM, et al. Among authors: pennings rje. Biomolecules. 2022 Jan 27;12(2):220. doi: 10.3390/biom12020220. Biomolecules. 2022. PMID: 35204720 Free PMC article. Review.

2

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Cryns K, et al. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007

3

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H. de Brouwer AP, et al. Hum Genet. 2003 Feb;112(2):156-63. doi: 10.1007/s00439-002-0833-0. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12522556

4

Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.

Pennings RJ, Huygen PL, Weston MD, van Aarem A, Wagenaar M, Kimberling WJ, Cremers CW. Pennings RJ, et al. Otol Neurotol. 2003 Jan;24(1):58-63. doi: 10.1097/00129492-200301000-00013. Otol Neurotol. 2003. PMID: 12544030

5

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Pennings RJ, Bom SJ, Cryns K, Flothmann K, Huygen PL, Kremer H, Van Camp G, Cremers CW. Pennings RJ, et al. Arch Otolaryngol Head Neck Surg. 2003 Apr;129(4):421-6. doi: 10.1001/archotol.129.4.421. Arch Otolaryngol Head Neck Surg. 2003. PMID: 12707188

6

Usher syndrome type III can mimic other types of Usher syndrome.

Pennings RJ, Fields RR, Huygen PL, Deutman AF, Kimberling WJ, Cremers CW. Pennings RJ, et al. Ann Otol Rhinol Laryngol. 2003 Jun;112(6):525-30. doi: 10.1177/000348940311200608. Ann Otol Rhinol Laryngol. 2003. PMID: 12834121

7

Hearing impairment in Usher syndrome type II.

Pennings RJ, Huygen PL, Cremers WR. Pennings RJ, et al. Ann Otol Rhinol Laryngol. 2003 Sep;112(9 Pt 1):825. doi: 10.1177/000348940311200915. Ann Otol Rhinol Laryngol. 2003. PMID: 14535570 No abstract available.

8

[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)].

Pennings RJ, Cryns K, Huygen PL, van Camp G, Cremers CW. Pennings RJ, et al. Ned Tijdschr Geneeskd. 2003 Nov 1;147(44):2170-2. Ned Tijdschr Geneeskd. 2003. PMID: 14626834 Review. Dutch.

9

Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.

Pennings RJ, Huygen PL, van den Ouweland JM, Cryns K, Dikkeschei LD, Van Camp G, Cremers CW. Pennings RJ, et al. Audiol Neurootol. 2004 Jan-Feb;9(1):51-62. doi: 10.1159/000074187. Audiol Neurootol. 2004. PMID: 14676474

10

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. van Wijk E, et al. Am J Hum Genet. 2004 Apr;74(4):738-44. doi: 10.1086/383096. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015129 Free PMC article.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

116 results

Search Page