Storm K - Search Results

1

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

2

An interstitial deletion of chromosome 7 at band q21: a case report and review.

Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, Nöthen MM. Courtens W, et al. Among authors: storm k. Am J Med Genet A. 2005 Apr 1;134A(1):12-23. doi: 10.1002/ajmg.a.30106. Am J Med Genet A. 2005. PMID: 15732063 Review.

3

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

4

Severe mental retardation and macroorchidism without mutation in the FMR1 gene.

Reyniers E, Wolff G, Tariverdian G, De Boulle K, Storm K, Kooy RF, Willems PJ. Reyniers E, et al. Among authors: storm k. Am J Med Genet. 1996 Aug 9;64(2):408-12. doi: 10.1002/(SICI)1096-8628(19960809)64:2<408::AID-AJMG35>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8844093 Review.

5

Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.

Storm K, Handig I, Reyniers E, Oostra BA, Kooy RF, Willems PJ. Storm K, et al. Hum Genet. 1998 Jan;102(1):54-6. doi: 10.1007/s004390050653. Hum Genet. 1998. PMID: 9490298

6

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

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

Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.

Wuyts W, Reyniers E, Ceuterick C, Storm K, de Barsy T, Martin JJ. Wuyts W, et al. Among authors: storm k. Am J Med Genet A. 2005 Feb 15;133A(1):82-4. doi: 10.1002/ajmg.a.30517. Am J Med Genet A. 2005. PMID: 15637709

9

Transgenic mouse model for the fragile X syndrome.

Kooy RF, D'Hooge R, Reyniers E, Bakker CE, Nagels G, De Boulle K, Storm K, Clincke G, De Deyn PP, Oostra BA, Willems PJ. Kooy RF, et al. Among authors: storm k. Am J Med Genet. 1996 Aug 9;64(2):241-5. doi: 10.1002/(SICI)1096-8628(19960809)64:2<241::AID-AJMG1>3.0.CO;2-X. Am J Med Genet. 1996. PMID: 8844056

10

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.

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