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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Beunders G, de Munnik SA, Van der Aa N, Ceulemans B, Voorhoeve E, Groffen AJ, Nillesen WM, Meijers-Heijboer EJ, Frank Kooy R, Yntema HG, Sistermans EA. Beunders G, et al. Among authors: yntema hg. Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10. Eur J Hum Genet. 2015. PMID: 25205402 Free PMC article.
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. Eur J Hum Genet. 2002 Aug;10(8):487-90. doi: 10.1038/sj.ejhg.5200836. Eur J Hum Genet. 2002. PMID: 12111644
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
Kleefstra T, Yntema HG, Oudakker AR, Banning MJ, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, de Vries LB, Hamel BC, van Bokhoven H. Kleefstra T, et al. Among authors: yntema hg. J Med Genet. 2004 May;41(5):394-9. doi: 10.1136/jmg.2003.016972. J Med Genet. 2004. PMID: 15121780 Free PMC article. No abstract available.
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. Among authors: yntema hg. J Med Genet. 2005 Apr;42(4):299-306. doi: 10.1136/jmg.2004.028464. J Med Genet. 2005. PMID: 15805155 Free PMC article.
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP. Lugtenberg D, et al. Among authors: yntema hg. Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985075 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. Among authors: yntema hg. 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.
159 results