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5. Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity. Lui JC; Barnes KM; Dong L; Yue S; Graber E; Rapaport R; Dauber A; Nilsson O; Baron J J Clin Endocrinol Metab; 2018 Apr; 103(4):1470-1478. PubMed ID: 29244146 [TBL] [Abstract][Full Text] [Related]
6. 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; ; Tatton-Brown K Am J Med Genet A; 2019 Apr; 179(4):588-594. PubMed ID: 30793471 [TBL] [Abstract][Full Text] [Related]
7. Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? Spellicy CJ; Peng Y; Olewiler L; Cathey SS; Rogers RC; Bartholomew D; Johnson J; Alexov E; Lee JA; Friez MJ; Jones JR J Hum Genet; 2019 Jun; 64(6):561-572. PubMed ID: 30858506 [TBL] [Abstract][Full Text] [Related]
8. PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. Cyrus S; Burkardt D; Weaver DD; Gibson WT Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):519-531. PubMed ID: 31724824 [TBL] [Abstract][Full Text] [Related]
9. Mutations in EZH2 cause Weaver syndrome. Gibson WT; Hood RL; Zhan SH; Bulman DE; Fejes AP; Moore R; Mungall AJ; Eydoux P; Babul-Hirji R; An J; Marra MA; ; Chitayat D; Boycott KM; Weaver DD; Jones SJ Am J Hum Genet; 2012 Jan; 90(1):110-8. PubMed ID: 22177091 [TBL] [Abstract][Full Text] [Related]
11. 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; ; Douglas J; Rahman N Oncotarget; 2011 Dec; 2(12):1127-33. PubMed ID: 22190405 [TBL] [Abstract][Full Text] [Related]
12. 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; ; Rahman N Am J Med Genet A; 2013 Dec; 161A(12):2972-80. PubMed ID: 24214728 [TBL] [Abstract][Full Text] [Related]
13. A novel mutation in EED associated with overgrowth. Cohen AS; Tuysuz B; Shen Y; Bhalla SK; Jones SJ; Gibson WT J Hum Genet; 2015 Jun; 60(6):339-42. PubMed ID: 25787343 [TBL] [Abstract][Full Text] [Related]
14. Novel EED mutation in patient with Weaver syndrome. Cooney E; Bi W; Schlesinger AE; Vinson S; Potocki L Am J Med Genet A; 2017 Feb; 173(2):541-545. PubMed ID: 27868325 [TBL] [Abstract][Full Text] [Related]
15. Weaver syndrome and defective cortical development: a rare association. Al-Salem A; Alshammari MJ; Hassan H; Alazami AM; Alkuraya FS Am J Med Genet A; 2013 Jan; 161A(1):225-7. PubMed ID: 23239504 [No Abstract] [Full Text] [Related]
16. EZH2 mutations and promoter hypermethylation in childhood acute lymphoblastic leukemia. Schäfer V; Ernst J; Rinke J; Winkelmann N; Beck JF; Hochhaus A; Gruhn B; Ernst T J Cancer Res Clin Oncol; 2016 Jul; 142(7):1641-50. PubMed ID: 27169594 [TBL] [Abstract][Full Text] [Related]
17. A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly. Turkkahraman D; Sakarya ANP; Randa NC Am J Med Genet A; 2021 Jul; 185(7):2234-2237. PubMed ID: 33788986 [No Abstract] [Full Text] [Related]
18. Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. Smigiel R; Biernacka A; Biela M; Murcia-Pienkowski V; Szmida E; Gasperowicz P; Kosinska J; Kostrzewa G; Koppolu AA; Walczak A; Wawrzuta D; Rydzanicz M; Sasiadek M; Ploski R J Hum Genet; 2018 Apr; 63(4):517-520. PubMed ID: 29410511 [TBL] [Abstract][Full Text] [Related]
19. EED related overgrowth: First report of multiple members in a single family. Goel H; O'Donnell S; Edwards M Am J Med Genet A; 2024 Feb; 194(2):374-382. PubMed ID: 37840385 [TBL] [Abstract][Full Text] [Related]
20. Histone deacetylase inhibitors deplete enhancer of zeste 2 and associated polycomb repressive complex 2 proteins in human acute leukemia cells. Fiskus W; Pranpat M; Balasis M; Herger B; Rao R; Chinnaiyan A; Atadja P; Bhalla K Mol Cancer Ther; 2006 Dec; 5(12):3096-104. PubMed ID: 17172412 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]