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2. 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]
3. 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]
4. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Türkmen S; Gillessen-Kaesbach G; Meinecke P; Albrecht B; Neumann LM; Hesse V; Palanduz S; Balg S; Majewski F; Fuchs S; Zschieschang P; Greiwe M; Mennicke K; Kreuz FR; Dehmel HJ; Rodeck B; Kunze J; Tinschert S; Mundlos S; Horn D Eur J Hum Genet; 2003 Nov; 11(11):858-65. PubMed ID: 14571271 [TBL] [Abstract][Full Text] [Related]
5. 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]
7. A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome. Lemire G; Gauthier J; Soucy JF; Delrue MA Am J Med Genet A; 2017 Jul; 173(7):1887-1890. PubMed ID: 28449304 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
11. Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature. Masunaga Y; Ono H; Fujisawa Y; Taniguchi K; Saitsu H; Ogata T Endocr J; 2024 Jan; 71(1):75-81. PubMed ID: 37989294 [TBL] [Abstract][Full Text] [Related]
12. Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. Yoneda Y; Saitsu H; Touyama M; Makita Y; Miyamoto A; Hamada K; Kurotaki N; Tomita H; Nishiyama K; Tsurusaki Y; Doi H; Miyake N; Ogata K; Naritomi K; Matsumoto N J Hum Genet; 2012 Mar; 57(3):207-11. PubMed ID: 22301465 [TBL] [Abstract][Full Text] [Related]
13. The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape. Weinberg DN; Papillon-Cavanagh S; Chen H; Yue Y; Chen X; Rajagopalan KN; Horth C; McGuire JT; Xu X; Nikbakht H; Lemiesz AE; Marchione DM; Marunde MR; Meiners MJ; Cheek MA; Keogh MC; Bareke E; Djedid A; Harutyunyan AS; Jabado N; Garcia BA; Li H; Allis CD; Majewski J; Lu C Nature; 2019 Sep; 573(7773):281-286. PubMed ID: 31485078 [TBL] [Abstract][Full Text] [Related]
14. Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome. Han JY; Lee IG; Jang W; Shin S; Park J; Kim M Clin Chim Acta; 2017 Jul; 470():31-35. PubMed ID: 28457852 [TBL] [Abstract][Full Text] [Related]
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17. Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. Tong TM; Hau EW; Lo IF; Chan DH; Lam ST Chin Med J (Engl); 2005 Sep; 118(18):1499-506. PubMed ID: 16232326 [TBL] [Abstract][Full Text] [Related]
18. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Berdasco M; Ropero S; Setien F; Fraga MF; Lapunzina P; Losson R; Alaminos M; Cheung NK; Rahman N; Esteller M Proc Natl Acad Sci U S A; 2009 Dec; 106(51):21830-5. PubMed ID: 20018718 [TBL] [Abstract][Full Text] [Related]
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20. Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort. Ha K; Anand P; Lee JA; Jones JR; Kim CA; Bertola DR; Labonne JD; Layman LC; Wenzel W; Kim HG Genes (Basel); 2016 Nov; 7(11):. PubMed ID: 27834868 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]