149 related articles for article (PubMed ID: 38306576)
1. 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]
2. 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]
3. 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]
4. A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.
Chen J; Yuan H; Xie K; Wang X; Tan L; Zou Y; Yang Y; Pan L; Xiao J; Chen G; Liu Y
BMC Cardiovasc Disord; 2020 Jan; 20(1):27. PubMed ID: 31959127
[TBL] [Abstract][Full Text] [Related]
5. A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease.
Kalayinia S; Maleki M; Mahdavi M; Mahdieh N
J Clin Lab Anal; 2020 Apr; 34(4):e23147. PubMed ID: 31867804
[TBL] [Abstract][Full Text] [Related]
6. GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.
Kalayinia S; Maleki M; Rokni-Zadeh H; Changi-Ashtiani M; Ahangar H; Biglari A; Shahani T; Mahdieh N
J Clin Lab Anal; 2019 Sep; 33(7):e22923. PubMed ID: 31115957
[TBL] [Abstract][Full Text] [Related]
7. Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
Zi F; Li Z; Cheng W; Huang X; Sheng X; Rong W
BMC Med Genomics; 2023 Sep; 16(1):223. PubMed ID: 37749571
[TBL] [Abstract][Full Text] [Related]
8. ISL1 loss-of-function mutation contributes to congenital heart defects.
Ma L; Wang J; Li L; Qiao Q; Di RM; Li XM; Xu YJ; Zhang M; Li RG; Qiu XB; Li X; Yang YQ
Heart Vessels; 2019 Apr; 34(4):658-668. PubMed ID: 30390123
[TBL] [Abstract][Full Text] [Related]
9. A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.
Liu JJ; Fan LL; Chen JL; Tan ZP; Yang YF
J Zhejiang Univ Sci B; 2014 Sep; 15(9):830-7. PubMed ID: 25183037
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease.
Blue GM; Humphreys D; Szot J; Major J; Chapman G; Bosman A; Kirk EP; Sholler GF; Harvey RP; Dunwoodie SL; Winlaw DS
Int J Cardiol; 2017 Mar; 230():155-163. PubMed ID: 27989580
[TBL] [Abstract][Full Text] [Related]
12. Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.
Ekure EN; Adeyemo A; Liu H; Sokunbi O; Kalu N; Martinez AF; Owosela B; Tekendo-Ngongang C; Addissie YA; Olusegun-Joseph A; Ikebudu D; Berger SI; Muenke M; Han Z; Kruszka P
Circ Genom Precis Med; 2021 Feb; 14(1):e003108. PubMed ID: 33448881
[TBL] [Abstract][Full Text] [Related]
13. Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.
Qiao F; Wang Y; Zhang C; Zhou R; Wu Y; Wang C; Meng L; Mao P; Cheng Q; Luo C; Hu P; Xu Z
Ultrasound Obstet Gynecol; 2021 Sep; 58(3):377-387. PubMed ID: 33142350
[TBL] [Abstract][Full Text] [Related]
14. Novel Autosomal Recessive Splice-Altering Variant in
Massadeh S; Albeladi M; Albesher N; Alhabshan F; Kampe KD; Chaikhouni F; Kabbani MS; Beetz C; Alaamery M
Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33919081
[TBL] [Abstract][Full Text] [Related]
15. Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Alankarage D; Szot JO; Pachter N; Slavotinek A; Selleri L; Shieh JT; Winlaw D; Giannoulatou E; Chapman G; Dunwoodie SL
Hum Mol Genet; 2020 May; 29(7):1068-1082. PubMed ID: 31625560
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
Okashah S; Vasudeva D; El Jerbi A; Khodjet-El-Khil H; Al-Shafai M; Syed N; Kambouris M; Udassi S; Saraiva LR; Al-Saloos H; Udassi J; Al-Shafai KN
Genes (Basel); 2022 Jul; 13(8):. PubMed ID: 36011280
[TBL] [Abstract][Full Text] [Related]
18. Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B.
Chen YW; Zhao W; Zhang ZF; Fu Q; Shen J; Zhang Z; Ji W; Wang J; Li F
Pediatr Cardiol; 2011 Oct; 32(7):958-65. PubMed ID: 21643846
[TBL] [Abstract][Full Text] [Related]
19. Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.
Blue GM; Kirk EP; Giannoulatou E; Dunwoodie SL; Ho JW; Hilton DC; White SM; Sholler GF; Harvey RP; Winlaw DS
J Am Coll Cardiol; 2014 Dec; 64(23):2498-506. PubMed ID: 25500235
[TBL] [Abstract][Full Text] [Related]
20. The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.
Bu H; Sun G; Zhu Y; Yang Y; Tan Z; Zhao T; Hu S
BMC Cardiovasc Disord; 2021 Jan; 21(1):12. PubMed ID: 33413087
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
