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3. NOTCH1-Dependent Nitric Oxide Signaling Deficiency in Hypoplastic Left Heart Syndrome Revealed Through Patient-Specific Phenotypes Detected in Bioengineered Cardiogenesis. Hrstka SC; Li X; Nelson TJ; Stem Cells; 2017 Apr; 35(4):1106-1119. PubMed ID: 28142228 [TBL] [Abstract][Full Text] [Related]
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5. Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutation. Adhicary S; Ye S; Lin H; Texter K; Garg V; Zhao MT Stem Cell Res; 2023 Feb; 66():103013. PubMed ID: 36599283 [TBL] [Abstract][Full Text] [Related]
6. 6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype. Cheng A; Neufeld-Kaiser W; Byers PH; Liu YJ BMC Cardiovasc Disord; 2020 Mar; 20(1):137. PubMed ID: 32183715 [TBL] [Abstract][Full Text] [Related]
7. Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies. Theis JL; Hu JJ; Sundsbak RS; Evans JM; Bamlet WR; Qureshi MY; O'Leary PW; Olson TM Circ Genom Precis Med; 2021 Feb; 14(1):e003126. PubMed ID: 33325730 [TBL] [Abstract][Full Text] [Related]
9. Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome. Gabriel GC; Yagi H; Xu X; Lo CW World J Pediatr Congenit Heart Surg; 2022 Sep; 13(5):565-570. PubMed ID: 36053093 [TBL] [Abstract][Full Text] [Related]
10. Sequencing of NOTCH1 gene in an Italian population with bicuspid aortic valve: Preliminary results from the GISSI OUTLIERS VAR study. Pileggi S; De Chiara B; Magnoli M; Franzosi MG; Merlanti B; Bianchini F; Moreo A; Romeo G; Russo CF; Rizzo S; Basso C; Martinelli L; Maseri A; Gene; 2019 Oct; 715():143970. PubMed ID: 31330235 [TBL] [Abstract][Full Text] [Related]
11. Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. Hinton RB; Martin LJ; Rame-Gowda S; Tabangin ME; Cripe LH; Benson DW J Am Coll Cardiol; 2009 Mar; 53(12):1065-71. PubMed ID: 19298921 [TBL] [Abstract][Full Text] [Related]
12. Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects. Durbin MD; Cadar AG; Williams CH; Guo Y; Bichell DP; Su YR; Hong CC Pediatr Cardiol; 2017 Aug; 38(6):1232-1240. PubMed ID: 28608148 [TBL] [Abstract][Full Text] [Related]
13. Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype. Sticchi E; De Cario R; Magi A; Giglio S; Provenzano A; Nistri S; Pepe G; Giusti B Biomed Res Int; 2018; 2018():8386123. PubMed ID: 30255099 [No Abstract] [Full Text] [Related]
14. Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions. Debiec RM; Hamby SE; Jones PD; Safwan K; Sosin M; Hetherington SL; Sprigings D; Sharman D; Lee K; Salahshouri P; Wheeldon N; Chukwuemeka A; Boutziouka V; Elamin M; Coolman S; Asiani M; Kharodia S; Skinner GJ; Samani NJ; Webb TR; Bolger AP Heart; 2022 Jun; 108(14):1114-1120. PubMed ID: 35288444 [TBL] [Abstract][Full Text] [Related]
15. Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. Kerstjens-Frederikse WS; van de Laar IM; Vos YJ; Verhagen JM; Berger RM; Lichtenbelt KD; Klein Wassink-Ruiter JS; van der Zwaag PA; du Marchie Sarvaas GJ; Bergman KA; Bilardo CM; Roos-Hesselink JW; Janssen JH; Frohn-Mulder IM; van Spaendonck-Zwarts KY; van Melle JP; Hofstra RM; Wessels MW Genet Med; 2016 Sep; 18(9):914-23. PubMed ID: 26820064 [TBL] [Abstract][Full Text] [Related]
16. Impact of MYH6 variants in hypoplastic left heart syndrome. Tomita-Mitchell A; Stamm KD; Mahnke DK; Kim MS; Hidestrand PM; Liang HL; Goetsch MA; Hidestrand M; Simpson P; Pelech AN; Tweddell JS; Benson DW; Lough JW; Mitchell ME Physiol Genomics; 2016 Dec; 48(12):912-921. PubMed ID: 27789736 [TBL] [Abstract][Full Text] [Related]
17. Variants in the NOTCH1 gene in patients with aortic coarctation. Freylikhman O; Tatarinova T; Smolina N; Zhuk S; Klyushina A; Kiselev A; Moiseeva O; Sjoberg G; Malashicheva A; Kostareva A Congenit Heart Dis; 2014; 9(5):391-6. PubMed ID: 24418111 [TBL] [Abstract][Full Text] [Related]
18. Hypoplastic left heart syndrome is heritable. Hinton RB; Martin LJ; Tabangin ME; Mazwi ML; Cripe LH; Benson DW J Am Coll Cardiol; 2007 Oct; 50(16):1590-5. PubMed ID: 17936159 [TBL] [Abstract][Full Text] [Related]