Pennings RJ - Search Results

1

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.

Feenstra I, Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, Cremers CW. Feenstra I, et al. Among authors: pennings rj. Am J Hum Genet. 2011 Dec 9;89(6):813-9. doi: 10.1016/j.ajhg.2011.11.008. Am J Hum Genet. 2011. PMID: 22152683 Free PMC article.

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. Among authors: pennings rj. 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. Among authors: pennings rj. 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

Molecular characterization of WFS1 in patients with Wolfram syndrome.

van ven Ouweland JM, Cryns K, Pennings RJ, Walraven I, Janssen GM, Maassen JA, Veldhuijzen BF, Arntzenius AB, Lindhout D, Cremers CW, Van Camp G, Dikkeschei LD. van ven Ouweland JM, et al. Among authors: pennings rj. J Mol Diagn. 2003 May;5(2):88-95. doi: 10.1016/s1525-1578(10)60457-6. J Mol Diagn. 2003. PMID: 12707373 Free PMC article.

7

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

8

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G. Cryns K, et al. Among authors: pennings rj. Hum Mutat. 2003 Oct;22(4):275-87. doi: 10.1002/humu.10258. Hum Mutat. 2003. PMID: 12955714 Review.

9

[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.

10

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

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