230 related articles for article (PubMed ID: 38293922)
1. Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Liu D; Billington CJ; Raja N; Wong ZC; Levin MD; Resch W; Alba C; Hupalo DN; Biamino E; Bedeschi MF; Digilio MC; Squeo GM; Villa R; Parrish PCR; Knutsen RH; Osgood S; Freeman JA; Dalgard CL; Merla G; Pober BR; Mervis CB; Roberts AE; Morris CA; Osborne LR; Kozel BA
J Am Heart Assoc; 2024 Feb; 13(3):e031377. PubMed ID: 38293922
[TBL] [Abstract][Full Text] [Related]
2. Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.
Parrish PCR; Liu D; Knutsen RH; Billington CJ; Mecham RP; Fu YP; Kozel BA
Hum Mol Genet; 2020 Jul; 29(12):2035-2050. PubMed ID: 32412588
[TBL] [Abstract][Full Text] [Related]
3. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.
Urbán Z; Riazi S; Seidl TL; Katahira J; Smoot LB; Chitayat D; Boyd CD; Hinek A
Am J Hum Genet; 2002 Jul; 71(1):30-44. PubMed ID: 12016585
[TBL] [Abstract][Full Text] [Related]
4. Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
Min S; Kinnear C; D'Alessandro LCA; Bouwmeester J; Yao R; Chiasson D; Keeley F; Mital S
Circ Genom Precis Med; 2020 Dec; 13(6):e002971. PubMed ID: 32960096
[TBL] [Abstract][Full Text] [Related]
5. Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Stephens SB; Novy T; Spurzem GN; Jacob B; Beecroft T; Soludczyk E; Kozel BA; Weigand J; Morris SA
J Am Heart Assoc; 2024 Apr; 13(8):e034048. PubMed ID: 38591341
[TBL] [Abstract][Full Text] [Related]
6. Supravalvar aortic stenosis: current surgical approaches and outcomes.
Deo SV; Burkhart HM; Dearani JA; Schaff HV
Expert Rev Cardiovasc Ther; 2013 Jul; 11(7):879-90. PubMed ID: 23895031
[TBL] [Abstract][Full Text] [Related]
7. Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome.
Dridi SM; Foucault Bertaud A; Igondjo Tchen S; Senni K; Ejeil AL; Pellat B; Lyonnet S; Bonnet D; Charpiot P; Godeau G
J Vasc Res; 2005; 42(3):190-201. PubMed ID: 15832055
[TBL] [Abstract][Full Text] [Related]
8. An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
Evangelidou P; Kousoulidou L; Salameh N; Alexandrou A; Papaevripidou I; Alexandrou IM; Ketoni A; Ioannidou C; Christophidou-Anastasiadou V; Tanteles GA; Sismani C
Eur J Med Genet; 2020 Dec; 63(12):104084. PubMed ID: 33045407
[TBL] [Abstract][Full Text] [Related]
9. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
Delio M; Pope K; Wang T; Samanich J; Haldeman-Englert CR; Kaplan P; Shaikh TH; Cai J; Marion RW; Morrow BE; Babcock M
Am J Med Genet A; 2013 Mar; 161A(3):527-33. PubMed ID: 23401415
[TBL] [Abstract][Full Text] [Related]
10. Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosis.
Zhang P; Huang A; Morales-Ruiz M; Starcher BC; Huang Y; Sessa WC; Niklason LE; Giordano FJ
Hum Gene Ther; 2012 Nov; 23(11):1186-99. PubMed ID: 22891920
[TBL] [Abstract][Full Text] [Related]
11. Computerized Tomography Use in Williams-Beuren Syndrome Aortopathy.
Kalis NN; Sulaibikh LK; Al Amer SR; Al Amer HY
Heart Views; 2017; 18(1):21-25. PubMed ID: 28584589
[TBL] [Abstract][Full Text] [Related]
12. Left coronary artery stenosis causing left ventricular dysfunction in two children with supravalvular aortic stenosis.
Yildiz O; Altin FH; Kaya M; Ozyılmaz I; Guzeltas A; Erek E
World J Pediatr Congenit Heart Surg; 2015 Apr; 6(2):311-6. PubMed ID: 25870356
[TBL] [Abstract][Full Text] [Related]
13. Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.
Hayano S; Okuno Y; Tsutsumi M; Inagaki H; Fukasawa Y; Kurahashi H; Kojima S; Takahashi Y; Kato T
Int J Cardiol; 2019 Jan; 274():290-295. PubMed ID: 30228022
[TBL] [Abstract][Full Text] [Related]
14. Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.
Huryn LA; Flaherty T; Nolen R; Prasov L; Zein WM; Cukras CA; Osgood S; Raja N; Levin MD; Vitale S; Brooks BP; Hufnagel RB; Kozel BA
Br J Ophthalmol; 2023 Oct; 107(10):1554-1559. PubMed ID: 35760456
[TBL] [Abstract][Full Text] [Related]
15. Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation.
Markush D; Sanchez-Lara PA; Grand K; Wong R; Garg R
Pediatr Cardiol; 2023 Apr; 44(4):946-950. PubMed ID: 36790509
[TBL] [Abstract][Full Text] [Related]
16. Elastin-driven genetic diseases.
Duque Lasio ML; Kozel BA
Matrix Biol; 2018 Oct; 71-72():144-160. PubMed ID: 29501665
[TBL] [Abstract][Full Text] [Related]
17. Late outcomes for surgical repair of supravalvar aortic stenosis.
Deo SV; Burkhart HM; Schaff HV; Li Z; Stensrud PE; Olson TM; Connolly HM; Dearani JA
Ann Thorac Surg; 2012 Sep; 94(3):854-9. PubMed ID: 22727249
[TBL] [Abstract][Full Text] [Related]
18. Twenty-year surgical experience with congenital supravalvar aortic stenosis.
Scott DJ; Campbell DN; Clarke DR; Goldberg SP; Karlin DR; Mitchell MB
Ann Thorac Surg; 2009 May; 87(5):1501-7; discussion 1507-8. PubMed ID: 19379894
[TBL] [Abstract][Full Text] [Related]
19. Genetic aspects of supravalvular aortic stenosis.
Morris CA
Curr Opin Cardiol; 1998 May; 13(3):214-9. PubMed ID: 9649945
[TBL] [Abstract][Full Text] [Related]
20. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
Joyce CA; Zorich B; Pike SJ; Barber JC; Dennis NR
J Med Genet; 1996 Dec; 33(12):986-92. PubMed ID: 9004128
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]