128 related articles for article (PubMed ID: 29663647)
1. Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.
Upadia J; Gonzales PR; Robin NH
Am J Med Genet A; 2018 Jun; 176(6):1423-1426. PubMed ID: 29663647
[TBL] [Abstract][Full Text] [Related]
2. Rare variants in NR2F2 cause congenital heart defects in humans.
Al Turki S; Manickaraj AK; Mercer CL; Gerety SS; Hitz MP; Lindsay S; D'Alessandro LC; Swaminathan GJ; Bentham J; Arndt AK; Louw J; Low J; Breckpot J; Gewillig M; Thienpont B; Abdul-Khaliq H; Harnack C; Hoff K; Kramer HH; Schubert S; Siebert R; Toka O; Cosgrove C; Watkins H; Lucassen AM; O'Kelly IM; Salmon AP; Bu'lock FA; Granados-Riveron J; Setchfield K; Thornborough C; Brook JD; Mulder B; Klaassen S; Bhattacharya S; Devriendt K; Fitzpatrick DF; ; Wilson DI; Mital S; Hurles ME
Am J Hum Genet; 2014 Apr; 94(4):574-85. PubMed ID: 24702954
[TBL] [Abstract][Full Text] [Related]
3. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M; Matsuoka LS; March M; Li D; Brokamp E; Benito-Sanz S; White SM; Lachlan K; Ahimaz P; Sewda A; Bastarache L; Thomas-Wilson A; Stoler JM; Bramswig NC; Baptista J; Stals K; Demurger F; Cogne B; Isidor B; Bedeschi MF; Peron A; Amiel J; Zackai E; Schacht JP; Iglesias AD; Morton J; Schmetz A; ; Seidel V; Lucia S; Baskin SM; Thiffault I; Cogan JD; Gordon CT; Chung WK; Bowdin S; Bhoj E
Eur J Hum Genet; 2023 Oct; 31(10):1117-1124. PubMed ID: 37500725
[TBL] [Abstract][Full Text] [Related]
4. A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect.
Qiao XH; Wang Q; Wang J; Liu XY; Xu YJ; Huang RT; Xue S; Li YJ; Zhang M; Qu XK; Li RG; Qiu XB; Yang YQ
Eur J Med Genet; 2018 Apr; 61(4):197-203. PubMed ID: 29222010
[TBL] [Abstract][Full Text] [Related]
5. Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.
Arsov T; Kelecic J; Frkovic SH; Sestan M; Kifer N; Andrews D; Adamski M; Jelusic M; Cook MC
Eur J Med Genet; 2021 Dec; 64(12):104347. PubMed ID: 34619368
[TBL] [Abstract][Full Text] [Related]
6. NR2F2 loss‑of‑function mutation is responsible for congenital bicuspid aortic valve.
Wang J; Abhinav P; Xu YJ; Li RG; Zhang M; Qiu XB; Di RM; Qiao Q; Li XM; Huang RT; Xue S; Yang YQ
Int J Mol Med; 2019 Apr; 43(4):1839-1846. PubMed ID: 30720060
[TBL] [Abstract][Full Text] [Related]
7. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X
Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569
[TBL] [Abstract][Full Text] [Related]
8. Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.
Matsunami N; Shanmugam H; Baird L; Stevens J; Byrne JL; Barnhart DC; Rau C; Feldkamp ML; Yoder BA; Leppert MF; Yost HJ; Brunelli L
Birth Defects Res; 2018 Apr; 110(7):610-617. PubMed ID: 29570242
[TBL] [Abstract][Full Text] [Related]
9. De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.
High FA; Bhayani P; Wilson JM; Bult CJ; Donahoe PK; Longoni M
Am J Med Genet A; 2016 Sep; 170(9):2457-61. PubMed ID: 27363585
[TBL] [Abstract][Full Text] [Related]
10. 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.
Nakamura E; Makita Y; Okamoto T; Nagaya K; Hayashi T; Sugimoto M; Manabe H; Taketazu G; Kajino H; Fujieda K
Eur J Med Genet; 2011; 54(3):354-6. PubMed ID: 21172461
[TBL] [Abstract][Full Text] [Related]
11. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.
Scott DA; Hernandez-Garcia A; Azamian MS; Jordan VK; Kim BJ; Starkovich M; Zhang J; Wong LJ; Darilek SA; Breman AM; Yang Y; Lupski JR; Jiwani AK; Das B; Lalani SR; Iglesias AD; Rosenfeld JA; Xia F
J Med Genet; 2017 Jan; 54(1):47-53. PubMed ID: 27550220
[TBL] [Abstract][Full Text] [Related]
12. Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
Bashamboo A; Eozenou C; Jorgensen A; Bignon-Topalovic J; Siffroi JP; Hyon C; Tar A; Nagy P; Sólyom J; Halász Z; Paye-Jaouen A; Lambert S; Rodriguez-Buritica D; Bertalan R; Martinerie L; Rajpert-De Meyts E; Achermann JC; McElreavey K
Am J Hum Genet; 2018 Mar; 102(3):487-493. PubMed ID: 29478779
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Bostwick BL; McLean S; Posey JE; Streff HE; Gripp KW; Blesson A; Powell-Hamilton N; Tusi J; Stevenson DA; Farrelly E; Hudgins L; Yang Y; Xia F; Wang X; Liu P; Walkiewicz M; McGuire M; Grange DK; Andrews MV; Hummel M; Madan-Khetarpal S; Infante E; Coban-Akdemir Z; Miszalski-Jamka K; Jefferies JL; ; Rosenfeld JA; Emrick L; Nugent KM; Lupski JR; Belmont JW; Lee B; Lalani SR
Genome Med; 2017 Aug; 9(1):73. PubMed ID: 28807008
[TBL] [Abstract][Full Text] [Related]
14. A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.
Liang L; Xie Y; Shen Y; Yin Q; Yuan H
Cytogenet Genome Res; 2016; 150(2):112-117. PubMed ID: 28030855
[TBL] [Abstract][Full Text] [Related]
15. Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.
Hurst JA; Berry AC; Tettenborn MA
J Med Genet; 1989 Jun; 26(6):407-8. PubMed ID: 2472485
[TBL] [Abstract][Full Text] [Related]
16. A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
Salpietro V; Ruggieri M; Mankad K; Di Rosa G; Granata F; Loddo I; Moschella E; Calabro MP; Capalbo A; Bernardini L; Novelli A; Polizzi A; Seidler DG; Arrigo T; Briuglia S
Am J Med Genet A; 2015 Sep; 167A(9):2042-51. PubMed ID: 25940952
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.
Sweeney NM; Nahas SA; Chowdhury S; Campo MD; Jones MC; Dimmock DP; Kingsmore SF;
Cold Spring Harb Mol Case Stud; 2018 Jun; 4(3):. PubMed ID: 29549119
[TBL] [Abstract][Full Text] [Related]
19. Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.
Cui X; Wu X; Wang H; Zhang S; Wang W; Jing X
Mol Genet Genomic Med; 2022 Feb; 10(2):e1863. PubMed ID: 35034425
[TBL] [Abstract][Full Text] [Related]
20. Interstitial duplication 19p.
Stratton RF; DuPont BR; Olsen AS; Fertitta A; Hoyer M; Moore CM
Am J Med Genet; 1995 Jul; 57(4):562-4. PubMed ID: 7573129
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
