Rooms L - Search Results

1

FRA2A is a CGG repeat expansion associated with silencing of AFF3.

Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Chilamakuri CS, Morrison H, Vandeweyer G, Reyniers E, Douglas E, Thompson G, Haan E, Gecz J, Fitzpatrick DR, Kooy RF. Metsu S, et al. Among authors: rooms l. PLoS Genet. 2014 Apr 24;10(4):e1004242. doi: 10.1371/journal.pgen.1004242. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24763282 Free PMC article.

2

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.

Metsu S, Rainger JK, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, Weksberg R, Fombonne E, Taylor MS, Scherer SW, Kooy RF, FitzPatrick DR. Metsu S, et al. Among authors: rooms l. Hum Mutat. 2014 Nov;35(11):1295-300. doi: 10.1002/humu.22683. Hum Mutat. 2014. PMID: 25196122

3

Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation.

Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF. Rooms L, et al. Ann Genet. 2004 Jan-Mar;47(1):53-9. doi: 10.1016/j.anngen.2003.10.001. Ann Genet. 2004. PMID: 15050874

4

Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.

Rooms L, Reyniers E, Kooy RF. Rooms L, et al. Hum Mutat. 2005 Jun;25(6):513-24. doi: 10.1002/humu.20185. Hum Mutat. 2005. PMID: 15880643 Review.

5

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.

Rooms L, Reyniers E, Kooy RF. Rooms L, et al. Hum Mutat. 2007 Feb;28(2):177-82. doi: 10.1002/humu.20421. Hum Mutat. 2007. PMID: 16991117

6

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.

Rooms L, Vandeweyer G, Reyniers E, van Mol K, de Canck I, Van der Aa N, Rossau R, Kooy RF. Rooms L, et al. Am J Med Genet A. 2011 Feb;155A(2):343-8. doi: 10.1002/ajmg.a.33810. Epub 2011 Jan 14. Am J Med Genet A. 2011. PMID: 21271651

7

Advances in understanding fragile X syndrome and related disorders.

Rooms L, Kooy RF. Rooms L, et al. Curr Opin Pediatr. 2011 Dec;23(6):601-6. doi: 10.1097/MOP.0b013e32834c7f1a. Curr Opin Pediatr. 2011. PMID: 22001764 Review.

8

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Van der Aa N, Vandeweyer G, Reyniers E, Kenis S, Dom L, Mortier G, Rooms L, Kooy RF. Van der Aa N, et al. Among authors: rooms l. Autism Res. 2012 Aug;5(4):277-81. doi: 10.1002/aur.1240. Epub 2012 Jun 11. Autism Res. 2012. PMID: 22689534

9

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. Clin Genet. 2006 Jan;69(1):58-64. doi: 10.1111/j.1399-0004.2005.00545.x. Clin Genet. 2006. PMID: 16451137

10

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF. van Bever Y, et al. Among authors: rooms l. Am J Med Genet A. 2005 May 15;135(1):91-5. doi: 10.1002/ajmg.a.30695. Am J Med Genet A. 2005. PMID: 15822126 Review.

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