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Page 1
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.
Pennings RJ, Huygen PL, Orten DJ, Wagenaar M, van Aarem A, Kremer H, Kimberling WJ, Cremers CW, Deutman AF. Pennings RJ, et al. Among authors: orten dj. Acta Ophthalmol Scand. 2004 Apr;82(2):131-9. doi: 10.1111/j.1600-0420.2004.00234.x. Acta Ophthalmol Scand. 2004. PMID: 15043528 Free article.
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
Pennings RJ, Te Brinke H, Weston MD, Claassen A, Orten DJ, Weekamp H, Van Aarem A, Huygen PL, Deutman AF, Hoefsloot LH, Cremers FP, Cremers CW, Kimberling WJ, Kremer H. Pennings RJ, et al. Among authors: orten dj. Hum Mutat. 2004 Aug;24(2):185. doi: 10.1002/humu.9259. Hum Mutat. 2004. PMID: 15241801
Genetic heterogeneity of Usher syndrome.
Kimberling WJ, Orten D, Pieke-Dahl S. Kimberling WJ, et al. Adv Otorhinolaryngol. 2000;56:11-8. doi: 10.1159/000059077. Adv Otorhinolaryngol. 2000. PMID: 10868209 Review.
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ. Weston MD, et al. Among authors: orten dj. Am J Hum Genet. 1996 Nov;59(5):1074-83. Am J Hum Genet. 1996. PMID: 8900236 Free PMC article.
Analysis of DNA elements that modulate myosin VIIA expression in humans.
Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ. Orten DJ, et al. Hum Mutat. 1999 Oct;14(4):354. doi: 10.1002/(SICI)1098-1004(199910)14:4<354::AID-HUMU18>3.0.CO;2-Z. Hum Mutat. 1999. Corrected and republished in: Hum Mutat. 2000 Jan;15(1):114-5. doi: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU21>3.0.CO;2-4 PMID: 10502787 Corrected and republished.
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ. Astuto LM, et al. Among authors: orten dj. Am J Hum Genet. 2002 Aug;71(2):262-75. doi: 10.1086/341558. Epub 2002 Jun 19. Am J Hum Genet. 2002. PMID: 12075507 Free PMC article.
The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).
Kelley PM, Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD, Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J, Kimberling WJ. Kelley PM, et al. Among authors: orten dj. Genomics. 1997 Feb 15;40(1):73-9. doi: 10.1006/geno.1996.4545. Genomics. 1997. PMID: 9070921 Free article.
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