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259 results

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Page 1
Multiple pterygium syndrome: evolution of the phenotype.
Thompson EM, Donnai D, Baraitser M, Hall CM, Pembrey ME, Fixsen J. Thompson EM, et al. Among authors: donnai d. J Med Genet. 1987 Dec;24(12):733-49. doi: 10.1136/jmg.24.12.733. J Med Genet. 1987. PMID: 3430553 Free PMC article.
Severe Silver-Russell syndrome.
Donnai D, Thompson E, Allanson J, Baraitser M. Donnai D, et al. J Med Genet. 1989 Jul;26(7):447-51. doi: 10.1136/jmg.26.7.447. J Med Genet. 1989. PMID: 2746617 Free PMC article.
Proteus syndrome: an expanded phenotype.
Clark RD, Donnai D, Rogers J, Cooper J, Baraitser M. Clark RD, et al. Among authors: donnai d. Am J Med Genet. 1987 May;27(1):99-117. doi: 10.1002/ajmg.1320270111. Am J Med Genet. 1987. PMID: 3605210
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. Among authors: donnai d. 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.
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.
Floating-Harbor syndrome.
Patton MA, Hurst J, Donnai D, McKeown CM, Cole T, Goodship J. Patton MA, et al. Among authors: donnai d. J Med Genet. 1991 Mar;28(3):201-4. doi: 10.1136/jmg.28.3.201. J Med Genet. 1991. PMID: 2051457 Free PMC article. No abstract available.
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.
Complementation in a 45,X/47,XX,+14 patient?
Donnai D, Clayton-Smith J, Baraitser M. Donnai D, et al. Clin Dysmorphol. 2008 Oct;17(4):291. doi: 10.1097/MCD.0b013e328317a3a7. Clin Dysmorphol. 2008. PMID: 18978664 No abstract available.
259 results