White SJ - Search Results

1

White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT. White SJ, et al. Hum Mutat. 2006 Sep;27(9):938-45. doi: 10.1002/humu.20367. Hum Mutat. 2006. PMID: 16917894

2

Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses.

White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH, den Dunnen JT. White SJ, et al. Hum Mutat. 2004 Jul;24(1):86-92. doi: 10.1002/humu.20054. Hum Mutat. 2004. PMID: 15221792

3

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.

White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, den Dunnen JT. White SJ, et al. Hum Mutat. 2005 Jul;26(1):59. doi: 10.1002/humu.9347. Hum Mutat. 2005. PMID: 15954112

4

Deletion and duplication screening in the DMD gene using MLPA.

Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, Djurisic M, Breuning MH, White SJ, den Dunnen JT. Lalic T, et al. Among authors: white sj. Eur J Hum Genet. 2005 Nov;13(11):1231-4. doi: 10.1038/sj.ejhg.5201465. Eur J Hum Genet. 2005. PMID: 16030524

5

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: white sj. Eur J Hum Genet. 2006 Feb;14(2):180-9. doi: 10.1038/sj.ejhg.5201540. Eur J Hum Genet. 2006. PMID: 16391556

6

MLPA and MAPH: sensitive detection of deletions and duplications.

den Dunnen JT, White SJ. den Dunnen JT, et al. Among authors: white sj. Curr Protoc Hum Genet. 2006 Nov;Chapter 7:Unit 7.14. doi: 10.1002/0471142905.hg0714s51. Curr Protoc Hum Genet. 2006. PMID: 18428396 Review.

7

Copy number variation in the genome; the human DMD gene as an example.

White SJ, den Dunnen JT. White SJ, et al. Cytogenet Genome Res. 2006;115(3-4):240-6. doi: 10.1159/000095920. Cytogenet Genome Res. 2006. PMID: 17124406 Review.

8

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.

White S, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, Vollebregt E, Bakker B, van Ommen GJ, Breuning MH, den Dunnen JT. White S, et al. Am J Hum Genet. 2002 Aug;71(2):365-74. doi: 10.1086/341942. Epub 2002 Jul 8. Am J Hum Genet. 2002. PMID: 12111668 Free PMC article.

9

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.

Zeng F, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, Smit M, White S, Jin CL, Xu M, Zhou DW, Yan JB, Chen MJ, van Beuningen R, Huang SZ, den Dunnen J, Zeng YT, Wu Y. Zeng F, et al. Hum Mutat. 2008 Jan;29(1):190-7. doi: 10.1002/humu.20613. Hum Mutat. 2008. PMID: 17854090

10

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.

Vink GR, White SJ, Gabelic S, Hogendoorn PC, Breuning MH, Bakker E. Vink GR, et al. Among authors: white sj. Eur J Hum Genet. 2005 Apr;13(4):470-4. doi: 10.1038/sj.ejhg.5201343. Eur J Hum Genet. 2005. PMID: 15586175

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