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2. Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders. Lee S; Menzies L; Hay E; Ochoa E; Docquier F; Rodger F; Deshpande C; Foulds NC; Jacquemont S; Jizi K; Kiep H; Kraus A; Löhner K; Morrison PJ; Popp B; Richardson R; van Haeringen A; Martin E; Toribio A; Li F; Jones WD; Sansbury FH; Maher ER Hum Mol Genet; 2023 Nov; 32(22):3123-3134. PubMed ID: 37166351 [TBL] [Abstract][Full Text] [Related]
3. Clinical Heterogeneity and Different Phenotypes in Patients with Parra A; Rabin R; Pappas J; Pascual P; Cazalla M; Arias P; Gallego-Zazo N; Santana A; Arroyo I; Artigas M; Pachajoa H; Alanay Y; Akgun-Dogan O; Ruaud L; Couque N; Levy J; Porras-Hurtado GL; Santos-Simarro F; Ballesta-Martinez MJ; Guillén-Navarro E; Muñoz-Hernández H; Nevado J; Spanish OverGrowth Registry Initiative ; Tenorio-Castano J; Lapunzina P Genes (Basel); 2023 May; 14(6):. PubMed ID: 37372360 [TBL] [Abstract][Full Text] [Related]
4. Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders. Chen M; Quan Y; Duan G; Wu H; Bai T; Wang Y; Zhou S; Ou J; Shen Y; Hu Z; Xia K; Guo H Eur J Med Genet; 2021 May; 64(5):104200. PubMed ID: 33766796 [TBL] [Abstract][Full Text] [Related]
5. Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome. van Rij MC; Hollink IHIM; Terhal PA; Kant SG; Ruivenkamp C; van Haeringen A; Kievit JA; van Belzen MJ Am J Med Genet A; 2018 May; 176(5):1212-1215. PubMed ID: 29681085 [TBL] [Abstract][Full Text] [Related]
6. A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling. Suda K; Fukuoka H; Iguchi G; Kanie K; Fujita Y; Odake Y; Matsumoto R; Bando H; Ito H; Takahashi M; Chihara K; Nagai H; Narumi S; Hasegawa T; Ogawa W; Takahashi Y J Clin Endocrinol Metab; 2021 Mar; 106(3):718-723. PubMed ID: 33248444 [TBL] [Abstract][Full Text] [Related]
7. Dual Chromatin and Cytoskeletal Remodeling by SETD2. Park IY; Powell RT; Tripathi DN; Dere R; Ho TH; Blasius TL; Chiang YC; Davis IJ; Fahey CC; Hacker KE; Verhey KJ; Bedford MT; Jonasch E; Rathmell WK; Walker CL Cell; 2016 Aug; 166(4):950-962. PubMed ID: 27518565 [TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of Zhang Y; Zhang H; Wu W; Wang D; Lv Y; Zhao D; Wang L; Liu Y; Zhang K Front Genet; 2023; 14():1081391. PubMed ID: 36777730 [No Abstract] [Full Text] [Related]
9. Cellular and molecular functions of SETD2 in the central nervous system. Mitchell B; Thor S; Piper M J Cell Sci; 2023 Nov; 136(21):. PubMed ID: 37921122 [TBL] [Abstract][Full Text] [Related]
10. The Benzene Hematotoxic and Reactive Metabolite 1,4-Benzoquinone Impairs the Activity of the Histone Methyltransferase SET Domain Containing 2 (SETD2) and Causes Aberrant Histone H3 Lysine 36 Trimethylation (H3K36me3). Berthelet J; Michail C; Bui LC; Le Coadou L; Sirri V; Wang L; Dulphy N; Dupret JM; Chomienne C; Guidez F; Rodrigues-Lima F Mol Pharmacol; 2021 Sep; 100(3):283-294. PubMed ID: 34266924 [TBL] [Abstract][Full Text] [Related]
11. A novel Wu Y; Liu F; Wan R; Jiao B Front Genet; 2023; 14():1153284. PubMed ID: 37025455 [No Abstract] [Full Text] [Related]
12. A New Chromatin-Cytoskeleton Link in Cancer. Giaccia AJ Mol Cancer Res; 2016 Dec; 14(12):1173-1175. PubMed ID: 27528705 [TBL] [Abstract][Full Text] [Related]
13. Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review. Meira JGC; Magalhães BS; Ferreira IBB; Tavares DF; Kobayashi GS; Leão EKEA Am J Med Genet A; 2021 May; 185(5):1569-1574. PubMed ID: 33638286 [TBL] [Abstract][Full Text] [Related]
14. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. Marzin P; Rondeau S; Aldinger KA; Alessandri JL; Isidor B; Heron D; Keren B; Dobyns WB; Cormier-Daire V Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):509-518. PubMed ID: 31643139 [TBL] [Abstract][Full Text] [Related]
15. Mutations in SETD2 cause a novel overgrowth condition. Luscan A; Laurendeau I; Malan V; Francannet C; Odent S; Giuliano F; Lacombe D; Touraine R; Vidaud M; Pasmant E; Cormier-Daire V J Med Genet; 2014 Aug; 51(8):512-7. PubMed ID: 24852293 [TBL] [Abstract][Full Text] [Related]
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20. Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent. Latchman K; Calder M; Morel D; Rhodes L; Juusola J; Tekin M Am J Med Genet A; 2020 Mar; 182(3):548-552. PubMed ID: 31833199 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]