Kleefstra T - Search Results

1

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.

Kleefstra T, van de Zande G, Merkx G, Mieloo H, Hoovers JM, Smeets D. Kleefstra T, et al. Eur J Hum Genet. 2000 Aug;8(8):637-40. doi: 10.1038/sj.ejhg.5200500. Eur J Hum Genet. 2000. PMID: 10951526

2

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BB, Hamel BC. Kleefstra T, et al. Clin Genet. 2002 May;61(5):359-62. doi: 10.1034/j.1399-0004.2002.610507.x. Clin Genet. 2002. PMID: 12081720

3

Low frequency of MECP2 mutations in mentally retarded males.

Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BB, Nillesen W, Sistermans EA, Brunner HG, Hamel BC, van Bokhoven H. Yntema HG, et al. Among authors: kleefstra t. Eur J Hum Genet. 2002 Aug;10(8):487-90. doi: 10.1038/sj.ejhg.5200836. Eur J Hum Genet. 2002. PMID: 12111644

4

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Kleefstra T, Yntema HG, Nillesen WM, Oudakker AR, Mullaart RA, Geerdink N, van Bokhoven H, de Vries BB, Sistermans EA, Hamel BC. Kleefstra T, et al. Eur J Hum Genet. 2004 Jan;12(1):24-8. doi: 10.1038/sj.ejhg.5201080. Eur J Hum Genet. 2004. PMID: 14560307

5

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H. Kleefstra T, et al. J Med Genet. 2005 Apr;42(4):299-306. doi: 10.1136/jmg.2004.028464. J Med Genet. 2005. PMID: 15805155 Free PMC article.

6

X-linked mental retardation: further lumping, splitting and emerging phenotypes.

Kleefstra T, Hamel BC. Kleefstra T, et al. Clin Genet. 2005 Jun;67(6):451-67. doi: 10.1111/j.1399-0004.2005.00434.x. Clin Genet. 2005. PMID: 15857409 Review.

7

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG. Lugtenberg D, et al. Among authors: kleefstra t. J Med Genet. 2006 Apr;43(4):362-70. doi: 10.1136/jmg.2005.036178. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169931 Free PMC article.

8

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

Kleefstra T, Koolen DA, Nillesen WM, de Leeuw N, Hamel BC, Veltman JA, Sistermans EA, van Bokhoven H, van Ravenswaay C, de Vries BB. Kleefstra T, et al. Am J Med Genet A. 2006 Mar 15;140(6):618-23. doi: 10.1002/ajmg.a.31123. Am J Med Genet A. 2006. PMID: 16470689

9

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H. Kleefstra T, et al. Am J Hum Genet. 2006 Aug;79(2):370-7. doi: 10.1086/505693. Epub 2006 Jun 13. Am J Hum Genet. 2006. PMID: 16826528 Free PMC article.

10

Pure subtelomeric microduplications as a cause of mental retardation.

Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB. Ruiter EM, et al. Among authors: kleefstra t. Clin Genet. 2007 Oct;72(4):362-8. doi: 10.1111/j.1399-0004.2007.00874.x. Clin Genet. 2007. PMID: 17850634

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

263 results

Search Page