Cremers CW - Search Results

1

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.

Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CW, Kimberling WJ, et al. Coucke P, et al. Among authors: cremers cw. N Engl J Med. 1994 Aug 18;331(7):425-31. doi: 10.1056/NEJM199408183310702. N Engl J Med. 1994. PMID: 8035838 Free article.

2

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.

Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres H, van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJ, Djelantik B, Cremers CW, Van de Heyning PH, Willems PJ. Van Camp G, et al. Among authors: cremers cw. Genomics. 1997 Apr 1;41(1):70-4. doi: 10.1006/geno.1997.4624. Genomics. 1997. PMID: 9126484 Free article.

3

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

Van Hauwe P, Coucke PJ, Ensink RJ, Huygen P, Cremers CW, Van Camp G. Van Hauwe P, et al. Among authors: cremers cw. Am J Med Genet. 2000 Jul 31;93(3):184-7. doi: 10.1002/1096-8628(20000731)93:3<184::aid-ajmg4>3.0.co;2-5. Am J Med Genet. 2000. PMID: 10925378

4

Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.

Kumar S, Kimberling WJ, Kenyon JB, Smith RJ, Marres HA, Cremers CW. Kumar S, et al. Among authors: cremers cw. Hum Mol Genet. 1992 Oct;1(7):491-5. doi: 10.1093/hmg/1.7.491. Hum Mol Genet. 1992. PMID: 1307249

5

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. Among authors: cremers cw. J Med Genet. 2004 Jan;41(1):11-3. doi: 10.1136/jmg.2003.010702. J Med Genet. 2004. PMID: 14729819 Free PMC article.

6

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

Van Camp G, Coucke PJ, Akita J, Fransen E, Abe S, De Leenheer EM, Huygen PL, Cremers CW, Usami S. Van Camp G, et al. Among authors: cremers cw. Hum Mutat. 2002 Jul;20(1):15-9. doi: 10.1002/humu.10096. Hum Mutat. 2002. PMID: 12112653

7

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.

8

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.

Coucke P, Van Camp G, Demirhan O, Kabakkaya Y, Balemans W, Van Hauwe P, Van Agtmael T, Smith RJ, Parving A, Bolder CH, Cremers CW, Willems PJ. Coucke P, et al. Among authors: cremers cw. Genomics. 1997 Feb 15;40(1):48-54. doi: 10.1006/geno.1996.4541. Genomics. 1997. PMID: 9070918 Free article.

9

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

10

Two frequent missense mutations in Pendred syndrome.

Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G. Van Hauwe P, et al. Among authors: cremers cw. Hum Mol Genet. 1998 Jul;7(7):1099-104. doi: 10.1093/hmg/7.7.1099. Hum Mol Genet. 1998. PMID: 9618166

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