de Brouwer AP - Search Results

1

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts.

de Brouwer AP, van Bokhoven H, Kremer H. de Brouwer AP, et al. Mol Diagn Ther. 2006;10(3):197-204. doi: 10.1007/BF03256458. Mol Diagn Ther. 2006. PMID: 16771605

2

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

3

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.

Snoeckx RL, Kremer H, Ensink RJ, Flothmann K, de Brouwer A, Smith RJ, Cremers CW, Van Camp G. Snoeckx RL, et al. J Med Genet. 2004 Jan;41(1):11-3. doi: 10.1136/jmg.2003.010702. J Med Genet. 2004. PMID: 14729819 Free PMC article.

4

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

Pennings RJ, Topsakal V, Astuto L, de Brouwer AP, Wagenaar M, Huygen PL, Kimberling WJ, Deutman AF, Kremer H, Cremers CW. Pennings RJ, et al. Among authors: de brouwer ap. Otol Neurotol. 2004 Sep;25(5):699-706. doi: 10.1097/00129492-200409000-00009. Otol Neurotol. 2004. PMID: 15353998

5

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H. Kleefstra T, et al. Among authors: de brouwer ap, de vries bb, de bruijn d. J Med Genet. 2005 Apr;42(4):299-306. doi: 10.1136/jmg.2004.028464. J Med Genet. 2005. PMID: 15805155 Free PMC article.

6

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.

Kalay E, Caylan R, Kremer H, de Brouwer AP, Karaguzel A. Kalay E, et al. Among authors: de brouwer ap. Hear Res. 2005 May;203(1-2):88-93. doi: 10.1016/j.heares.2004.11.022. Hear Res. 2005. PMID: 15855033

7

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.

de Brouwer AP, Kunst HP, Krebsova A, van Asseldonk K, Reis A, Snoeckx RL, Van Camp G, Cremers CW, Cremers FP, Kremer H. de Brouwer AP, et al. Am J Med Genet A. 2005 Aug 15;137(1):41-6. doi: 10.1002/ajmg.a.30844. Am J Med Genet A. 2005. PMID: 16007628

8

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG. Lugtenberg D, et al. Among authors: de brouwer ap, de vries bb. J Med Genet. 2006 Apr;43(4):362-70. doi: 10.1136/jmg.2005.036178. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169931 Free PMC article.

9

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H. Kalay E, et al. Among authors: de brouwer ap. J Mol Med (Berl). 2005 Dec;83(12):1025-32. doi: 10.1007/s00109-005-0719-4. Epub 2005 Nov 8. J Mol Med (Berl). 2005. PMID: 16283141

10

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.

Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H. Kalay E, et al. Among authors: de brouwer ap. Hum Mutat. 2005 Dec;26(6):591. doi: 10.1002/humu.9384. Hum Mutat. 2005. PMID: 16287143

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

150 results

Search Page

Filters