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In-frame deletion in MECP2 causes mild nonspecific mental retardation.
Yntema HG, Oudakker AR, Kleefstra T, Hamel BC, van Bokhoven H, Chelly J, Kalscheuer VM, Fryns JP, Raynaud M, Moizard MP, Moraine C. Yntema HG, et al. Among authors: fryns jp. Am J Med Genet. 2002 Jan 1;107(1):81-3. doi: 10.1002/ajmg.10085. Am J Med Genet. 2002. PMID: 11807877 No abstract available.
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gécz J, Lenzner S, Kalscheuer VM, Ropers HH. Freude K, et al. Among authors: fryns jp. Am J Hum Genet. 2004 Aug;75(2):305-9. doi: 10.1086/422507. Epub 2004 May 25. Am J Hum Genet. 2004. PMID: 15162322 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: fryns jp. 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.
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G. Van Esch H, et al. Among authors: fryns jp. Am J Hum Genet. 2005 Sep;77(3):442-53. doi: 10.1086/444549. Epub 2005 Jul 29. Am J Hum Genet. 2005. PMID: 16080119 Free PMC article.
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. Among authors: fryns jp. 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.
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.
des Portes V, Beldjord C, Chelly J, Hamel B, Kremer H, Smits A, van Bokhoven H, Ropers HH, Claes S, Fryns JP, Ronce N, Gendrot C, Toutain A, Raynaud M, Moraine C. des Portes V, et al. Among authors: fryns jp. Am J Med Genet. 1999 Jul 30;85(3):263-5. doi: 10.1002/(sici)1096-8628(19990730)85:3<263::aid-ajmg15>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10398240 No abstract available.
1,311 results