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Page 1
Identification of a rare polymorphism in the human TP53 promoter.
Attwooll CL, McGown G, Thorncroft M, Stewart FJ, Birch JM, Varley JM. Attwooll CL, et al. Among authors: stewart fj. Cancer Genet Cytogenet. 2002 Jun;135(2):165-72. doi: 10.1016/s0165-4608(01)00649-5. Cancer Genet Cytogenet. 2002. PMID: 12127401
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration; Douglas J, Rahman N. Tatton-Brown K, et al. Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385. Oncotarget. 2011. PMID: 22190405 Free PMC article.
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. 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.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G. Kerr B, et al. J Med Genet. 2006 May;43(5):401-5. doi: 10.1136/jmg.2005.040352. Epub 2006 Jan 27. J Med Genet. 2006. PMID: 16443854 Free PMC article.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR. Ansari M, et al. J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14. J Med Genet. 2014. PMID: 25125236 Free PMC article.
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J, von Kriegsheim A, Blatnik A, Stewart FJ, Wakeling E, Carroll N, Ross A, Park SM; Deciphering Developmental Disorders Study; Bickmore WA, Pradeepa MM, FitzPatrick DR. Olley G, et al. Among authors: stewart fj. Nat Genet. 2018 Mar;50(3):329-332. doi: 10.1038/s41588-018-0042-y. Epub 2018 Jan 29. Nat Genet. 2018. PMID: 29379197 Free PMC article.
A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC. Heinen CA, et al. J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14. J Med Genet. 2016. PMID: 26769062 Free PMC article.
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, García-Miñaúr S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D. Banka S, et al. Eur J Hum Genet. 2012 Apr;20(4):381-8. doi: 10.1038/ejhg.2011.220. Epub 2011 Nov 30. Eur J Hum Genet. 2012. PMID: 22126750 Free PMC article.
NAA10 polyadenylation signal variants cause syndromic microphthalmia.
Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG. Johnston JJ, et al. J Med Genet. 2019 Jul;56(7):444-452. doi: 10.1136/jmedgenet-2018-105836. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842225 Free PMC article.
153 results