| 1 | CLS, RPS6KA3
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| Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.
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| Labonne JD, Chung MJ, Jones JR, Anand P, Wenzel W, Iacoboni D, Layman LC, Kim HG.
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| Gene 575(1):42-7. doi: 10.1016/j.gene.2015.08.032. Epub 2015 Aug 20.
2016
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| 2 | CLS, RPS6KA3
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| Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation.
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| Koehne T, Jeschke A, Petermann F, Seitz S, Neven M, Peters S, Luther J, Schweizer M, Schinke T, Kahl-Nieke B, Amling M, David JP.
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| J Dent Res 95(7):752-60. doi: 10.1177/0022034516634329. Epub 2016 Feb 29.
2016
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| 3 | CLS, RPS6KA3
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| Coffin-Lowry syndrome.
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| Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A.
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| Eur J Hum Genet 18(6):627-33. Epub 2009 Nov 4. Review.PMID: 19888300 2010
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| 4 | RPS6KA3, CLS
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| The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.
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| Marques Pereira P, Heron D, Hanauer A.
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| Hum Genet 122(5):541-3. Epub 2007 Aug 24. 2007
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| 5 | CLS, RPS6KA3
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| A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.
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| Wang Y, Martinez JE, Wilson GL, He XY, Tuck-Muller CM, Maertens P, Wertelecki W, Chen TJ.
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| Am J Med Genet A 140(12):1274-9. 2006
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| 6 | RPS6KA3, CLS
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| Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
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| Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A.
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| Clin Genet 70(2):161-6. 2006
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| 7 | MRX19, CLS, RPS6KA3
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| Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
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| Field M, Tarpey P, Boyle J, Edkins S, Goodship J, Luo Y, Moon J, Teague J, Stratton MR, Futreal PA, Wooster R, Raymond FL, Turner G.
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| Clin Genet 70(6):509-15. 2006
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| 8 | RPS6KA3, CLS
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| RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.
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| Nakamura M, Yamagata T, Mori M, Momoi MY.
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| Brain Dev 27(2):114-7. 2005
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| 9 | CLS, RPS6KA3
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| X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).
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| Jacquot S, Zeniou M, Touraine R, Hanauer A.
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| Eur J Hum Genet 10(1):2-5. 2002
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| 10 | CLS, RPS6KA3
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| Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.
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| Zeniou M, Pannetier S, Fryns JP, Hanauer A.
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| Am J Hum Genet 70(6):1421-33. 2002
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| 11 | CLS, RPS6KA3
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| Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
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| Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A.
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| Hum Mutat 17(2):103-16. 2001
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| 12 | CLS, RPS6KA3
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| Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome.
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| Abidi F, et al.
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| Eur J Hum Genet 7(1):20-6. 1999
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| 13 | CLS, RPS6KA3
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| Coffin-Lowry syndrome: current status.
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| Jacquot S, Merienne K, Trivier E, Zeniou M, Pannetier S, Hanauer A.
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| Am J Med Genet 85(3):214-5. No abstract available. 1999
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| 14 | CLS, RPS6KA3
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| Germline mosaicism in Coffin-Lowry syndrome.
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| Jacquot S, et al.
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| Eur J Hum Genet 6 : 578-582. 1998
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| 15 | CLS, RPS6KA3
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| Mutation analysis of the RSK2 gene in Coffin-Lowry patients : extensive allelic heterogeneity and a high rate of de novo mutations.
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| Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel JL, Sassone-Corsi P, Hanauer A.
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| Am J Hum Genet 63 : 1631-1640. 1998
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| 16 | CLS, KFSD, RS1
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| High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.
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| Van de Vosse E, Van der Bent P, Heus JJ, Van Ommen GJ, Den Dunnen JT.
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| Mamm Genome 8(7):497-501. 1997
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| 17 | CLS, RP15, HYP1, KFSD, RS1
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| An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15 : refined localization of RS.
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| Van de Vosse E, et al.
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| Eur J Hum Genet 4 : 101-104. 1996
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| 18 | CLS, RPS6KA3
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| Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.
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| Trivier E, et al.
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| Nature 384 : 567-570. 1996
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| 19 | CLS
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| Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22.
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| Bird H, et al.
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| Am J Med Genet 59 : 512-516. 1995
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| 20 | CLS
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| Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene.
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| Biancalana V, et al.
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| Genomics 22 : 617-625. 1994
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| 21 | CLS, RS1
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| Construction of a YAC contig in the Xp22 region containing the Coffin-Lowry syndrome and the retinoschisis genes.
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| Biancalana V, et al.
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| Cytogenet Cell Genet 64 : 179. 1993
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| 22 | CLS
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| Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.
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| Biancalana V, et al.
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| Am J Hum Genet 50 : 981-987. 1992
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| 23 | CLS
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| Coffin-Lowry syndrome : a multicenter study.
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| Gilgenkrantz S, et al.
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| Clin Genet 34 : 230-245. 1988
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| 24 | CLS
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| A family with the Coffin Lowry syndrome revisited : localization of CLS to Xp21-pter.
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| Partington MW, et al.
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| Am J Med Genet 30 : 509-521. 1988
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