White SJ - Search Results

1

Skewed X-inactivation is common in the general female population.

Shvetsova E, Sofronova A, Monajemi R, Gagalova K, Draisma HHM, White SJ, Santen GWE, Chuva de Sousa Lopes SM, Heijmans BT, van Meurs J, Jansen R, Franke L, Kiełbasa SM, den Dunnen JT, 't Hoen PAC; BIOS consortium; GoNL consortium. Shvetsova E, et al. Among authors: white sj. Eur J Hum Genet. 2019 Mar;27(3):455-465. doi: 10.1038/s41431-018-0291-3. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552425 Free PMC article.

2

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

3

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.

4

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.

5

Detecting copy number changes in genomic DNA: MAPH and MLPA.

White SJ, Breuning MH, den Dunnen JT. White SJ, et al. Methods Cell Biol. 2004;75:751-68. doi: 10.1016/s0091-679x(04)75032-3. Methods Cell Biol. 2004. PMID: 15603451 No abstract available.

6

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Roelfsema JH, et al. Among authors: white sj. Am J Hum Genet. 2005 Apr;76(4):572-80. doi: 10.1086/429130. Epub 2005 Feb 10. Am J Hum Genet. 2005. PMID: 15706485 Free PMC article.

7

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

8

Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4.

Sterrenburg E, van der Wees CG, White SJ, Turk R, de Menezes RX, van Ommen GJ, den Dunnen JT, 't Hoen PA. Sterrenburg E, et al. Among authors: white sj. Neurobiol Dis. 2006 Jul;23(1):228-36. doi: 10.1016/j.nbd.2006.03.004. Epub 2006 May 6. Neurobiol Dis. 2006. PMID: 16679024

9

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C. Kriek M, et al. Among authors: white sj. Hum Genet. 2006 Aug;120(1):77-84. doi: 10.1007/s00439-006-0185-2. Epub 2006 May 18. Hum Genet. 2006. PMID: 16708226

10

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. Lesnik Oberstein SA, et al. Among authors: white sj. Am J Hum Genet. 2006 Sep;79(3):562-6. doi: 10.1086/507567. Epub 2006 Jul 19. Am J Hum Genet. 2006. PMID: 16909395 Free PMC article.

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