These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
155 related articles for article (PubMed ID: 36279688)
1. BCOR variants are associated with X-linked recessive partial epilepsy. Li X; Bian WJ; Liu XR; Wang J; Luo S; Li BM; Yi YH; Wu QY; Zhai QX; Gao LD; Zhang HF; He N; Liao WP; Epilepsy Res; 2022 Nov; 187():107036. PubMed ID: 36279688 [TBL] [Abstract][Full Text] [Related]
2. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. Ragge N; Isidor B; Bitoun P; Odent S; Giurgea I; Cogné B; Deb W; Vincent M; Le Gall J; Morton J; Lim D; ; Le Meur G; Zazo Seco C; Zafeiropoulou D; Bax D; Zwijnenburg P; Arteche A; Swafiri ST; Cleaver R; McEntagart M; Kini U; Newman W; Ayuso C; Corton M; Herenger Y; Jeanne M; Calvas P; Chassaing N Hum Genet; 2019 Sep; 138(8-9):1051-1069. PubMed ID: 29974297 [TBL] [Abstract][Full Text] [Related]
3. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Hilton E; Johnston J; Whalen S; Okamoto N; Hatsukawa Y; Nishio J; Kohara H; Hirano Y; Mizuno S; Torii C; Kosaki K; Manouvrier S; Boute O; Perveen R; Law C; Moore A; Fitzpatrick D; Lemke J; Fellmann F; Debray FG; Dastot-Le-Moal F; Gerard M; Martin J; Bitoun P; Goossens M; Verloes A; Schinzel A; Bartholdi D; Bardakjian T; Hay B; Jenny K; Johnston K; Lyons M; Belmont JW; Biesecker LG; Giurgea I; Black G Eur J Hum Genet; 2009 Oct; 17(10):1325-35. PubMed ID: 19367324 [TBL] [Abstract][Full Text] [Related]
4. Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms. Redwood A; Douzgou S; Waller S; Ramsden S; Roberts A; Bonin H; Lloyd IC; Ashworth J; Black GCM; Clayton-Smith J Eur J Med Genet; 2020 Feb; 63(2):103658. PubMed ID: 31048080 [TBL] [Abstract][Full Text] [Related]
5. MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability. Yang JH; Liu ZG; Liu CL; Zhang MR; Jia YL; Zhai QX; He MF; He N; Qiao JD Seizure; 2024 Mar; 116():30-36. PubMed ID: 36894399 [TBL] [Abstract][Full Text] [Related]
6. Bian WJ; Li ZJ; Wang J; Luo S; Li BM; Gao LD; He N; Yi YH Front Mol Neurosci; 2022; 15():862480. PubMed ID: 35663265 [TBL] [Abstract][Full Text] [Related]
7. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Ng D; Thakker N; Corcoran CM; Donnai D; Perveen R; Schneider A; Hadley DW; Tifft C; Zhang L; Wilkie AO; van der Smagt JJ; Gorlin RJ; Burgess SM; Bardwell VJ; Black GC; Biesecker LG Nat Genet; 2004 Apr; 36(4):411-6. PubMed ID: 15004558 [TBL] [Abstract][Full Text] [Related]
8. A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. Kondo Y; Saitsu H; Miyamoto T; Nishiyama K; Tsurusaki Y; Doi H; Miyake N; Ryoo NK; Kim JH; Yu YS; Matsumoto N J Hum Genet; 2012 Mar; 57(3):197-201. PubMed ID: 22301464 [TBL] [Abstract][Full Text] [Related]
9. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Horn D; Chyrek M; Kleier S; Lüttgen S; Bolz H; Hinkel GK; Korenke GC; Riess A; Schell-Apacik C; Tinschert S; Wieczorek D; Gillessen-Kaesbach G; Kutsche K Eur J Hum Genet; 2005 May; 13(5):563-9. PubMed ID: 15770227 [TBL] [Abstract][Full Text] [Related]
10. X-linked BCOR variants identified in Chinese Han patients with congenital heart disease. Suo MJ; Chen WC; Xu ZQ; Tian GX; Li T; Li P; Sheng W; Huang GY; Ma XJ J Gene Med; 2023 Jan; 25(1):e3461. PubMed ID: 36314054 [TBL] [Abstract][Full Text] [Related]
11. Expression of Normal or Mutated X-Linked El Ayachi I; Zou XY; Yan X; Lou Y; Huang GT J Dent Res; 2020 Feb; 99(2):196-203. PubMed ID: 31775564 [TBL] [Abstract][Full Text] [Related]
12. Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. Surapornsawasd T; Ogawa T; Tsuji M; Moriyama K J Hum Genet; 2014 Jun; 59(6):314-20. PubMed ID: 24694763 [TBL] [Abstract][Full Text] [Related]
13. Nuclear import of transcriptional corepressor BCOR occurs through interaction with karyopherin α expressed in human periodontal ligament. Myat AB; Ogawa T; Kadota-Watanabe C; Moriyama K Biochem Biophys Res Commun; 2018 Dec; 507(1-4):67-73. PubMed ID: 30396568 [TBL] [Abstract][Full Text] [Related]
14. Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in Zhuang J; Chen C; Chen Y; Zeng S; Jiang Y; Wang Y; Chen X; Xie Y; Wang G Front Genet; 2022; 13():829613. PubMed ID: 35401667 [No Abstract] [Full Text] [Related]
15. Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant. Zhou Y; Wojcik A; Sanders VR; Rahmani B; Kurup SP Int Ophthalmol; 2018 Dec; 38(6):2677-2682. PubMed ID: 29058245 [TBL] [Abstract][Full Text] [Related]
16. OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR. Hamline MY; Corcoran CM; Wamstad JA; Miletich I; Feng J; Lohr JL; Hemberger M; Sharpe PT; Gearhart MD; Bardwell VJ Dev Biol; 2020 Dec; 468(1-2):110-132. PubMed ID: 32692983 [TBL] [Abstract][Full Text] [Related]
17. Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. Kraus C; Uebe S; Thiel CT; Ekici AB; Reis A; Zweier C Am J Med Genet A; 2018 Dec; 176(12):2872-2876. PubMed ID: 30450806 [TBL] [Abstract][Full Text] [Related]