207 related articles for article (PubMed ID: 36314054)
1. 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]
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. 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]
4. 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]
5. PTPN11 Gene Mutations and Its Association with the Risk of Congenital Heart Disease.
Xu ZQ; Chen WC; Li YJ; Suo MJ; Tian GX; Sheng W; Huang GY
Dis Markers; 2022; 2022():8290779. PubMed ID: 35440950
[TBL] [Abstract][Full Text] [Related]
6. Functional analysis of HECA variants identified in congenital heart disease in the Chinese population.
Li T; Wu Y; Chen WC; Xue X; Suo MJ; Li P; Sheng W; Huang GY
J Clin Lab Anal; 2022 Sep; 36(9):e24649. PubMed ID: 35949005
[TBL] [Abstract][Full Text] [Related]
7. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Dardas Z; Fatih JM; Jolly A; Dawood M; Du H; Grochowski CM; Jones EG; Jhangiani SN; Wehrens XHT; Liu P; Bi W; Boerwinkle E; Posey JE; Muzny DM; Gibbs RA; Lupski JR; Coban-Akdemir Z; Morris SA
Genome Med; 2024 Apr; 16(1):53. PubMed ID: 38570875
[TBL] [Abstract][Full Text] [Related]
8. DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
Xia H; Huang X; Deng S; Xu H; Yang Y; Liu X; Yuan L; Deng H
PLoS One; 2021; 16(6):e0252786. PubMed ID: 34133440
[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. Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.
LaHaye S; Corsmeier D; Basu M; Bowman JL; Fitzgerald-Butt S; Zender G; Bosse K; McBride KL; White P; Garg V
Circ Cardiovasc Genet; 2016 Aug; 9(4):320-9. PubMed ID: 27418595
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Identification of nuclear localization signals within the human BCOR protein.
Surapornsawasd T; Ogawa T; Moriyama K
FEBS Lett; 2015 Oct; 589(21):3313-20. PubMed ID: 26054978
[TBL] [Abstract][Full Text] [Related]
13. The mutation of BCOR is highly recurrent and oncogenic in mature T-cell lymphoma.
Kang JH; Lee SH; Lee J; Choi M; Cho J; Kim SJ; Kim WS; Ko YH; Yoo HY
BMC Cancer; 2021 Jan; 21(1):82. PubMed ID: 33468080
[TBL] [Abstract][Full Text] [Related]
14. Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease.
Gong L; Wang C; Xie H; Gao J; Li T; Qi S; Wang B; Wang J
Mol Genet Genomic Med; 2022 May; 10(5):e1909. PubMed ID: 35218327
[TBL] [Abstract][Full Text] [Related]
15. WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation.
Hao L; Ma J; Wu F; Ma X; Qian M; Sheng W; Yan T; Tang N; Jiang X; Zhang B; Xiao D; Qian Y; Zhang J; Jiang N; Zhou W; Chen W; Ma D; Huang G
Clin Transl Med; 2022 Jul; 12(7):e941. PubMed ID: 35808830
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Whole-exome sequencing of pathogenic genes in a family with congenital heart disease: A case report.
Chang L; Ji R; Sa R; Huge J; An C
Medicine (Baltimore); 2024 Feb; 103(5):e36977. PubMed ID: 38306576
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.
Hong N; Zhang E; Wang Q; Zhang X; Li F; Fu Q; Xu R; Yu Y; Chen S; Xu Y; Sun K
J Transl Med; 2018 Sep; 16(1):260. PubMed ID: 30241482
[TBL] [Abstract][Full Text] [Related]
20. A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
Szot JO; Cuny H; Blue GM; Humphreys DT; Ip E; Harrison K; Sholler GF; Giannoulatou E; Leo P; Duncan EL; Sparrow DB; Ho JWK; Graham RM; Pachter N; Chapman G; Winlaw DS; Dunwoodie SL
Circ Genom Precis Med; 2018 Mar; 11(3):e001978. PubMed ID: 29555671
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]