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Page 1
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME; DDD Study; Fisher SE, Logan DW. Dias C, et al. Among authors: kleefstra t. Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453576 Free PMC article.
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gecz J, Turner G, Reinhardt R, Kalscheuer VM, Ropers HH, Lenzner S. Jensen LR, et al. Among authors: kleefstra t. Am J Hum Genet. 2005 Feb;76(2):227-36. doi: 10.1086/427563. Epub 2004 Dec 7. Am J Hum Genet. 2005. PMID: 15586325 Free PMC article.
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, van Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, van Bokhoven H. Lugtenberg D, et al. Among authors: kleefstra t. Am J Hum Genet. 2006 Feb;78(2):265-78. doi: 10.1086/500306. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16385466 Free PMC article.
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG. Kleefstra T, et al. J Med Genet. 2009 Sep;46(9):598-606. doi: 10.1136/jmg.2008.062950. Epub 2009 Mar 4. J Med Genet. 2009. PMID: 19264732 Free article.
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP. Coene KL, et al. Among authors: kleefstra t. Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002. Am J Hum Genet. 2009. PMID: 19800048 Free PMC article.
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. Willemsen MH, et al. Among authors: kleefstra t. Eur J Hum Genet. 2010 Apr;18(4):429-35. doi: 10.1038/ejhg.2009.192. Epub 2009 Nov 18. Eur J Hum Genet. 2010. PMID: 19920853 Free PMC article.
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB, van Bokhoven H, de Brouwer AP. de Leeuw N, et al. Among authors: kleefstra t. Am J Med Genet A. 2010 Dec;152A(12):3084-90. doi: 10.1002/ajmg.a.33743. Am J Med Genet A. 2010. PMID: 21108393
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.
Willemsen MH, Vallès A, Kirkels LA, Mastebroek M, Olde Loohuis N, Kos A, Wissink-Lindhout WM, de Brouwer AP, Nillesen WM, Pfundt R, Holder-Espinasse M, Vallée L, Andrieux J, Coppens-Hofman MC, Rensen H, Hamel BC, van Bokhoven H, Aschrafi A, Kleefstra T. Willemsen MH, et al. Among authors: kleefstra t. J Med Genet. 2011 Dec;48(12):810-8. doi: 10.1136/jmedgenet-2011-100294. Epub 2011 Oct 15. J Med Genet. 2011. PMID: 22003227
274 results