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2. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. Tenorio J; Alarcón P; Arias P; Dapía I; García-Miñaur S; Palomares Bralo M; Campistol J; Climent S; Valenzuela I; Ramos S; Monseny AM; Grondona FL; Botet J; Serrano M; Solís M; Santos-Simarro F; Álvarez S; Teixidó-Tura G; Fernández Jaén A; Gordo G; Bardón Rivera MB; Nevado J; Hernández A; Cigudosa JC; Ruiz-Pérez VL; Tizzano EF; ; Lapunzina P Eur J Hum Genet; 2020 Apr; 28(4):469-479. PubMed ID: 31685998 [TBL] [Abstract][Full Text] [Related]
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4. Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar Hollink IHIM; van den Ouweland AMW; Beverloo HB; Arentsen-Peters STCJM; Zwaan CM; Wagner A J Med Genet; 2017 Dec; 54(12):805-808. PubMed ID: 28432085 [TBL] [Abstract][Full Text] [Related]
5. Dnmt3a deficiency in the skin causes focal, canonical DNA hypomethylation and a cellular proliferation phenotype. Chen DY; Ferguson IM; Braun KA; Sutton LA; Helton NM; Ramakrishnan SM; Smith AM; Miller CA; Ley TJ Proc Natl Acad Sci U S A; 2021 Apr; 118(16):. PubMed ID: 33846253 [TBL] [Abstract][Full Text] [Related]
6. Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. Kosaki R; Terashima H; Kubota M; Kosaki K Am J Med Genet A; 2017 Jan; 173(1):250-253. PubMed ID: 27991732 [TBL] [Abstract][Full Text] [Related]
7. Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. Okamoto N; Toribe Y; Shimojima K; Yamamoto T Am J Med Genet A; 2016 May; 170A(5):1339-42. PubMed ID: 26866722 [TBL] [Abstract][Full Text] [Related]
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9. 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]
10. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. Shen W; Heeley JM; Carlston CM; Acuna-Hidalgo R; Nillesen WM; Dent KM; Douglas GV; Levine KL; Bayrak-Toydemir P; Marcelis CL; Shinawi M; Carey JC Am J Med Genet A; 2017 Nov; 173(11):3022-3028. PubMed ID: 28941052 [TBL] [Abstract][Full Text] [Related]
11. 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; ; van Montfort R; Rahman N Nat Genet; 2014 Apr; 46(4):385-8. PubMed ID: 24614070 [TBL] [Abstract][Full Text] [Related]
12. Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis. Ghaoui R; Ha TT; Kerkhof J; McConkey H; Gao S; Babic M; King R; Ravenscroft G; Koszyca B; Otto S; Laing NG; Scott H; Sadikovic B; Kassahn KS Neuromuscul Disord; 2023 Jun; 33(6):484-489. PubMed ID: 37209493 [TBL] [Abstract][Full Text] [Related]
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15. Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. Xin B; Cruz Marino T; Szekely J; Leblanc J; Cechner K; Sency V; Wensel C; Barabas M; Therriault V; Wang H Clin Genet; 2017 Apr; 91(4):623-628. PubMed ID: 27701732 [TBL] [Abstract][Full Text] [Related]
16. Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings. Jiménez de la Peña M; Rincón-Pérez I; López-Martín S; Albert J; Martín Fernández-Mayoralas D; Fernández-Perrone AL; Jiménez de Domingo A; Tirado P; Calleja-Pérez B; Porta J; Álvarez S; Fernández-Jaén A Am J Med Genet A; 2024 Feb; 194(2):211-217. PubMed ID: 37795572 [TBL] [Abstract][Full Text] [Related]
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