Storm K - Search Results

1

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.

De Leeneer K, Van Bockstal M, De Brouwer S, Swietek N, Schietecatte P, Sabbaghian N, Van den Ende J, Willocx S, Storm K, Blaumeiser B, Van Asperen CJ, Wijnen JT, Leunen K, Legius E, Michils G, Matthijs G, Blok MJ, Gomez-Garcia E, De Paepe A, Tischkowitz M, Poppe B, Claes K. De Leeneer K, et al. Among authors: storm k. Breast Cancer Res Treat. 2012 May;133(1):393-8. doi: 10.1007/s10549-012-1998-4. Epub 2012 Feb 28. Breast Cancer Res Treat. 2012. PMID: 22370629 Free article.

2

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation.

Baert A, Depuydt J, Van Maerken T, Poppe B, Malfait F, Storm K, van den Ende J, Van Damme T, De Nobele S, Perletti G, De Leeneer K, Claes KB, Vral A. Baert A, et al. Among authors: storm k. Breast Cancer Res. 2016 May 17;18(1):52. doi: 10.1186/s13058-016-0709-1. Breast Cancer Res. 2016. PMID: 27184744 Free PMC article.

3

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.

Storm K, Willocx S, Flothmann K, Van Camp G. Storm K, et al. Hum Mutat. 1999;14(3):263-6. doi: 10.1002/(SICI)1098-1004(1999)14:3<263::AID-HUMU10>3.0.CO;2-X. Hum Mutat. 1999. PMID: 10477435

4

N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis.

Van Hoorenbeeck K, Storm K, van den Ende J, Biervliet M, Desager KN. Van Hoorenbeeck K, et al. Among authors: storm k. J Cyst Fibros. 2007 May;6(3):220-2. doi: 10.1016/j.jcf.2006.10.002. Epub 2006 Nov 28. J Cyst Fibros. 2007. PMID: 17127107 Free article.

5

CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.

Kooy RF, Reyniers E, Storm K, Vits L, van Velzen D, de Ruiter PE, Brinkmann AO, de Paepe A, Willems PJ. Kooy RF, et al. Among authors: storm k. Am J Med Genet. 1999 Jul 30;85(3):209-13. Am J Med Genet. 1999. PMID: 10398229

6

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, van Goethem G, Laridon A, Ceulemans B, Courtens W, Kooy RF. Rooms L, et al. Among authors: storm k. Clin Genet. 2006 Jan;69(1):58-64. doi: 10.1111/j.1399-0004.2005.00545.x. Clin Genet. 2006. PMID: 16451137

7

An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.

Wuyts W, Radersma R, Storm K, Vits L. Wuyts W, et al. Among authors: storm k. Clin Genet. 2005 Dec;68(6):542-7. doi: 10.1111/j.1399-0004.2005.00538.x. Clin Genet. 2005. PMID: 16283885

8

Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.

Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K. Wuyts W, et al. Among authors: storm k. Am J Med Genet A. 2005 May 15;135(1):66-8. doi: 10.1002/ajmg.a.30663. Am J Med Genet A. 2005. PMID: 15793835

9

High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).

Storm K, Moens E, Vits L, De Vlieger H, Delaere G, D'Hollander M, Wuyts W, Biervliet M, Van Schil L, Desager K, Nöthen MM. Storm K, et al. J Cyst Fibros. 2007 Nov 30;6(6):371-5. doi: 10.1016/j.jcf.2006.10.013. Epub 2007 May 3. J Cyst Fibros. 2007. PMID: 17481968 Free article.

10

The M34T allele variant of connexin 26.

Cucci RA, Prasad S, Kelley PM, Green GE, Storm K, Willocx S, Cohn ES, Van Camp G, Smith RJ. Cucci RA, et al. Among authors: storm k. Genet Test. 2000;4(4):335-44. doi: 10.1089/109065700750065063. Genet Test. 2000. PMID: 11216656

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