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328 results

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Among authors: lynch sa. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.
Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. Ross AJ, et al. Among authors: lynch sa. Nat Genet. 1998 Dec;20(4):358-61. doi: 10.1038/3828. Nat Genet. 1998. PMID: 9843207
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.
Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T. Hagan DM, et al. Among authors: lynch sa. Am J Hum Genet. 2000 May;66(5):1504-15. doi: 10.1086/302899. Epub 2000 Apr 4. Am J Hum Genet. 2000. PMID: 10749657 Free PMC article.
Autosomal dominant sacral agenesis: Currarino syndrome.
Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. Lynch SA, et al. J Med Genet. 2000 Aug;37(8):561-6. doi: 10.1136/jmg.37.8.561. J Med Genet. 2000. PMID: 10922380 Free PMC article. Review.
328 results