142 related articles for article (PubMed ID: 36854698)
1. [Oculo-facio-cardio-dental syndrome caused by
Lu YY; Zhang ZH; Li X; Guan N
Zhongguo Dang Dai Er Ke Za Zhi; 2023 Feb; 25(2):202-204. PubMed ID: 36854698
[TBL] [Abstract][Full Text] [Related]
2. A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.
Hu Q; Mai J; Xiang Q; Zhou B; Liu S; Wang J
BMC Pediatr; 2022 Feb; 22(1):82. PubMed ID: 35130870
[TBL] [Abstract][Full Text] [Related]
3. Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion.
Di Stefano C; Lombardo B; Fabbricatore C; Munno C; Caliendo I; Gallo F; Pastore L
Gene; 2015 Apr; 559(2):203-6. PubMed ID: 25620158
[TBL] [Abstract][Full Text] [Related]
4. A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome.
Zhang J; Jia H; Wang J; Xiong Y; Li J; Li X; Zhao J; Zhang X; You Q; Zhu G; Tsai FF; Espina M; Wan X
Sci China Life Sci; 2019 Jan; 62(1):119-125. PubMed ID: 30267259
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.
Zhu X; Dai FR; Wang J; Zhang Y; Tan ZP; Zhang Y
Gene; 2015 Oct; 571(1):142-4. PubMed ID: 26196063
[TBL] [Abstract][Full Text] [Related]
7. Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.
O'Byrne JJ; Laffan E; Murray DJ; Reardon W
Am J Med Genet A; 2017 May; 173(5):1374-1377. PubMed ID: 28317252
[TBL] [Abstract][Full Text] [Related]
8. Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.
Lozić B; Ljubković J; Pandurić DG; Saltvig I; Kutsche K; Krželj V; Zemunik T
Braz J Med Biol Res; 2012 Dec; 45(12):1315-9. PubMed ID: 22983184
[TBL] [Abstract][Full Text] [Related]
9. Oculo-facio-cardio-dental (OFCD) syndrome: a case report.
Nguyen TT; Truong ATH; Hoang VA; Van Huynh D; Van Nguyen T; Le CT; Dang DTP; Le MHN
J Med Case Rep; 2024 Jan; 18(1):18. PubMed ID: 38178193
[TBL] [Abstract][Full Text] [Related]
10. A potential molecular pathogenesis of cardiac/laterality defects in Oculo-Facio-Cardio-Dental syndrome.
Tanaka K; Kato A; Angelocci C; Watanabe M; Kato Y
Dev Biol; 2014 Mar; 387(1):28-36. PubMed ID: 24440151
[TBL] [Abstract][Full Text] [Related]
11. Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.
Jiang YH; Fang P; Adesina AM; Furman P; Johnston JJ; Biesecker LG; Brown CW
Am J Med Genet A; 2009 Jun; 149A(6):1249-52. PubMed ID: 19449433
[TBL] [Abstract][Full Text] [Related]
12. Dental management of a patient with oculo-facio-cardio-dental syndrome.
Cogulu D; Ertugrul F
J Dent Child (Chic); 2008; 75(3):306-8. PubMed ID: 19040819
[TBL] [Abstract][Full Text] [Related]
13. BCOR regulates mesenchymal stem cell function by epigenetic mechanisms.
Fan Z; Yamaza T; Lee JS; Yu J; Wang S; Fan G; Shi S; Wang CY
Nat Cell Biol; 2009 Aug; 11(8):1002-9. PubMed ID: 19578371
[TBL] [Abstract][Full Text] [Related]
14. Oculo-facio-cardio-dental syndrome in a mother and daughter.
McGovern E; Al-Mudaffer M; McMahon C; Brosnahan D; Fleming P; Reardon W
Int J Oral Maxillofac Surg; 2006 Nov; 35(11):1060-2. PubMed ID: 16829040
[TBL] [Abstract][Full Text] [Related]
15. Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype.
Grossmann V; Tiacci E; Holmes AB; Kohlmann A; Martelli MP; Kern W; Spanhol-Rosseto A; Klein HU; Dugas M; Schindela S; Trifonov V; Schnittger S; Haferlach C; Bassan R; Wells VA; Spinelli O; Chan J; Rossi R; Baldoni S; De Carolis L; Goetze K; Serve H; Peceny R; Kreuzer KA; Oruzio D; Specchia G; Di Raimondo F; Fabbiano F; Sborgia M; Liso A; Farinelli L; Rambaldi A; Pasqualucci L; Rabadan R; Haferlach T; Falini B
Blood; 2011 Dec; 118(23):6153-63. PubMed ID: 22012066
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with
Fan J; Santos da Cruz NF; Negron CI; Zhu AY; Chang TC; Berrocal AM
Am J Ophthalmol Case Rep; 2024 Jun; 34():102060. PubMed ID: 38699441
[TBL] [Abstract][Full Text] [Related]
18. Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition.
Martinho J; Ferreira H; Paulo S; Paula A; Marto CM; Carrilho E; Marques-Ferreira M
Int J Environ Res Public Health; 2019 Mar; 16(6):. PubMed ID: 30875852
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome.
Larhant M; Sourice S; Grimaud F; Cordoba L; Leveau S; Huet P; Corre P; Khonsari RH
J Craniomaxillofac Surg; 2014 Jun; 42(4):321-4. PubMed ID: 23827343
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
