Cremers CW - Search Results

1

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ. Orten DJ, et al. Among authors: cremers cw. Hum Mutat. 2008 Apr;29(4):537-44. doi: 10.1002/humu.20691. Hum Mutat. 2008. PMID: 18220287

2

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: cremers cw. Hum Mutat. 2003 Oct;22(4):275-87. doi: 10.1002/humu.10258. Hum Mutat. 2003. PMID: 12955714 Review.

3

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

Kochhar A, Orten DJ, Sorensen JL, Fischer SM, Cremers CW, Kimberling WJ, Smith RJ. Kochhar A, et al. Among authors: cremers cw. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20714. Hum Mutat. 2008. PMID: 18330911

4

Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.

Kumar S, Kimberling WJ, Connolly CJ, Tinley S, Marres HA, Cremers CW. Kumar S, et al. Among authors: cremers cw. Am J Hum Genet. 1994 Dec;55(6):1188-94. Am J Hum Genet. 1994. PMID: 7977379 Free PMC article.

5

Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.

Kumar S, Marres HA, Cremers CW, Kimberling WJ. Kumar S, et al. Among authors: cremers cw. Am J Med Genet. 1998 Apr 13;76(5):395-401. Am J Med Genet. 1998. PMID: 9556298

6

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.

Kumar S, Kimberling WJ, Weston MD, Schaefer BG, Berg MA, Marres HA, Cremers CW. Kumar S, et al. Among authors: cremers cw. Hum Mutat. 1998;11(6):443-9. doi: 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S. Hum Mutat. 1998. PMID: 9603436

7

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.

Kumar S, Deffenbacher K, Cremers CW, Van Camp G, Kimberling WJ. Kumar S, et al. Among authors: cremers cw. Genet Test. 1997-1998;1(4):243-51. doi: 10.1089/gte.1997.1.243. Genet Test. 1997. PMID: 10464653

8

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. Among authors: cremers cw. 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.

9

Erratum: 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. Among authors: cremers cw. 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. Hum Mutat. 2000. PMID: 10612833

10

Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

Kumar S, Deffenbacher K, Marres HA, Cremers CW, Kimberling WJ. Kumar S, et al. Among authors: cremers cw. Am J Hum Genet. 2000 May;66(5):1715-20. doi: 10.1086/302890. Epub 2000 Apr 3. Am J Hum Genet. 2000. PMID: 10762556 Free PMC article.

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