Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2014 2
2015 1
2017 1
2019 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. Foster A, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31479583 Review.
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N. Yost S, et al. Nat Genet. 2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883. Epub 2017 May 29. Nat Genet. 2017. PMID: 28553959 Free PMC article.
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N; Childhood Overgrowth Consortium; van Montfort R, Rahman N. Tatton-Brown K, et al. Nat Genet. 2014 Apr;46(4):385-8. doi: 10.1038/ng.2917. Epub 2014 Mar 9. Nat Genet. 2014. PMID: 24614070 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.
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
Hanks S, Perdeaux ER, Seal S, Ruark E, Mahamdallie SS, Murray A, Ramsay E, Del Vecchio Duarte S, Zachariou A, de Souza B, Warren-Perry M, Elliott A, Davidson A, Price H, Stiller C, Pritchard-Jones K, Rahman N. Hanks S, et al. Nat Commun. 2014 Aug 7;5:4398. doi: 10.1038/ncomms5398. Nat Commun. 2014. PMID: 25099282 Free PMC article.
Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.
Oldridge DA, Wood AC, Weichert-Leahey N, Crimmins I, Sussman R, Winter C, McDaniel LD, Diamond M, Hart LS, Zhu S, Durbin AD, Abraham BJ, Anders L, Tian L, Zhang S, Wei JS, Khan J, Bramlett K, Rahman N, Capasso M, Iolascon A, Gerhard DS, Guidry Auvil JM, Young RA, Hakonarson H, Diskin SJ, Look AT, Maris JM. Oldridge DA, et al. Nature. 2015 Dec 17;528(7582):418-21. doi: 10.1038/nature15540. Epub 2015 Nov 11. Nature. 2015. PMID: 26560027 Free PMC article.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM, Hague J, Hilhorst-Hofstee Y, Hoffer M, Johnson D, Josifova D, Kant SG, Kini U, Lachlan K, Lam W, Lees M, Lynch S, Maitz S, McKee S, Metcalfe K, Nathanson K, Ockeloen CW, Parker MJ, Pierson TM, Rahikkala E, Sanchez-Lara PA, Spano A, Van Maldergem L, Cole T, Douzgou S, Tatton-Brown K. Ostrowski PJ, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13. Am J Med Genet C Semin Med Genet. 2019. PMID: 31721432
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
Griffiths S, Loveday C, Zachariou A, Behan LA, Chandler K, Cole T, D'Arrigo S, Dieckmann A, Foster A, Gibney J, Hunter M, Milani D, Pantaleoni C, Roche E, Sherlock M, Springer A, White SM; Childhood Overgrowth Collaboration; Tatton-Brown K. Griffiths S, et al. Am J Med Genet A. 2019 Apr;179(4):588-594. doi: 10.1002/ajmg.a.61066. Epub 2019 Feb 21. Am J Med Genet A. 2019. PMID: 30793471