Schouten J - Search Results

1

A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.

Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE. Mulley JC, et al. Among authors: schouten j. Neurology. 2006 Sep 26;67(6):1094-5. doi: 10.1212/01.wnl.0000237322.04338.2b. Neurology. 2006. PMID: 17000989

2

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification.

Douglas J, Tatton-Brown K, Coleman K, Guerrero S, Berg J, Cole TR, Fitzpatrick D, Gillerot Y, Hughes HE, Pilz D, Raymond FL, Temple IK, Irrthum A, Schouten JP, Rahman N. Douglas J, et al. Among authors: schouten jp. J Med Genet. 2005 Sep;42(9):e56. doi: 10.1136/jmg.2005.031930. J Med Genet. 2005. PMID: 16140999 Free PMC article.

3

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.

Slater H, Bruno D, Ren H, La P, Burgess T, Hills L, Nouri S, Schouten J, Choo KH. Slater H, et al. Among authors: schouten j. Hum Mutat. 2004 Aug;24(2):164-71. doi: 10.1002/humu.20072. Hum Mutat. 2004. PMID: 15241798

4

Are there three types of horizontal cell in the human retina?

Kolb H, Fernandez E, Schouten J, Ahnelt P, Linberg KA, Fisher SK. Kolb H, et al. Among authors: schouten j. J Comp Neurol. 1994 May 15;343(3):370-86. doi: 10.1002/cne.903430304. J Comp Neurol. 1994. PMID: 8027448

5

Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.

Northrop EL, Ren H, Bruno DL, McGhie JD, Coffa J, Schouten J, Choo KH, Slater HR. Northrop EL, et al. Among authors: schouten j. Hum Mutat. 2005 Nov;26(5):477-86. doi: 10.1002/humu.20243. Hum Mutat. 2005. PMID: 16170807

6

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.

Hogervorst FB, Nederlof PM, Gille JJ, McElgunn CJ, Grippeling M, Pruntel R, Regnerus R, van Welsem T, van Spaendonk R, Menko FH, Kluijt I, Dommering C, Verhoef S, Schouten JP, van't Veer LJ, Pals G. Hogervorst FB, et al. Among authors: schouten jp. Cancer Res. 2003 Apr 1;63(7):1449-53. Cancer Res. 2003. PMID: 12670888

7

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy.

Bruno DL, Burgess T, Ren H, Nouri S, Pertile MD, Francis DI, Norris F, Kenney BK, Schouten J, Andy Choo KH, Slater HR. Bruno DL, et al. Among authors: schouten j. Am J Med Genet A. 2006 Dec 15;140(24):2786-93. doi: 10.1002/ajmg.a.31552. Am J Med Genet A. 2006. PMID: 17106871

8

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients.

Sørensen KM, El-Segaier M, Fernlund E, Errami A, Bouvagnet P, Nehme N, Steensberg J, Hjortdal V, Soller M, Behjati M, Werge T, Kirchoff M, Schouten J, Tommerup N, Andersen PS, Larsen LA. Sørensen KM, et al. Among authors: schouten j. Am J Med Genet A. 2012 Apr;158A(4):720-5. doi: 10.1002/ajmg.a.35214. Epub 2012 Mar 1. Am J Med Genet A. 2012. PMID: 22383218

9

Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.

Sørensen KM, Agergaard P, Olesen C, Andersen PS, Larsen LA, Ostergaard JR, Schouten JP, Christiansen M. Sørensen KM, et al. J Mol Diagn. 2010 Mar;12(2):147-51. doi: 10.2353/jmoldx.2010.090099. Epub 2010 Jan 14. J Mol Diagn. 2010. PMID: 20075206 Free PMC article.

10

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. Among authors: schouten j. Hum Mutat. 2004 Jul;24(1):86-92. doi: 10.1002/humu.20054. Hum Mutat. 2004. PMID: 15221792

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