130 related articles for article (PubMed ID: 32597575)
1. Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports.
Keravnou A; Bashiardes E; Barberis V; Michailidou K; Soteriou M; Tanteles GA; Cariolou MA
Mol Genet Genomic Med; 2020 Sep; 8(9):e1378. PubMed ID: 32597575
[TBL] [Abstract][Full Text] [Related]
2. Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report.
Keravnou A; Bashiardes E; Michailidou K; Soteriou M; Moushi A; Cariolou M
BMC Med Genet; 2018 Dec; 19(1):208. PubMed ID: 30526509
[TBL] [Abstract][Full Text] [Related]
3. Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.
Schubert JA; Landis BJ; Shikany AR; Hinton RB; Ware SM
Am J Med Genet A; 2016 May; 170A(5):1288-94. PubMed ID: 26854089
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
Regalado ES; Guo DC; Villamizar C; Avidan N; Gilchrist D; McGillivray B; Clarke L; Bernier F; Santos-Cortez RL; Leal SM; Bertoli-Avella AM; Shendure J; Rieder MJ; Nickerson DA; ; Milewicz DM
Circ Res; 2011 Sep; 109(6):680-6. PubMed ID: 21778426
[TBL] [Abstract][Full Text] [Related]
5. Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.
Sadeghipour P; Valuian M; Ghasemi S; Rafiee F; Pourirahim M; Mahmoodian M; Maleki M; Kalayinia S
Lab Med; 2024 Jul; 55(4):447-453. PubMed ID: 38113391
[TBL] [Abstract][Full Text] [Related]
6. Novel SMAD3 p.Arg386Thr genetic variant co-segregating with thoracic aortic aneurysm and dissection.
Engström K; Vánky F; Rehnberg M; Trinks C; Jonasson J; Green A; Gunnarsson C
Mol Genet Genomic Med; 2020 Apr; 8(4):e1089. PubMed ID: 32022471
[TBL] [Abstract][Full Text] [Related]
7. Familial patterns of thoracic aortic aneurysms.
Coady MA; Davies RR; Roberts M; Goldstein LJ; Rogalski MJ; Rizzo JA; Hammond GL; Kopf GS; Elefteriades JA
Arch Surg; 1999 Apr; 134(4):361-7. PubMed ID: 10199307
[TBL] [Abstract][Full Text] [Related]
8. Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).
Arnaud P; Hanna N; Benarroch L; Aubart M; Bal L; Bouvagnet P; Busa T; Dulac Y; Dupuis-Girod S; Edouard T; Faivre L; Gouya L; Lacombe D; Langeois M; Leheup B; Milleron O; Naudion S; Odent S; Tchitchinadze M; Ropers J; Jondeau G; Boileau C
Genet Med; 2019 Sep; 21(9):2015-2024. PubMed ID: 30739908
[TBL] [Abstract][Full Text] [Related]
9.
Hostetler EM; Regalado ES; Guo DC; Hanna N; Arnaud P; Muiño-Mosquera L; Callewaert BL; Lee K; Leal SM; Wallace SE; Rideout AL; Dyack S; Aatre RD; Boileau C; De Backer J; Jondeau G; Milewicz DM
J Med Genet; 2019 Apr; 56(4):252-260. PubMed ID: 30661052
[TBL] [Abstract][Full Text] [Related]
10. An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
Hilhorst-Hofstee Y; Scholte AJ; Rijlaarsdam ME; van Haeringen A; Kroft LJ; Reijnierse M; Ruivenkamp CA; Versteegh MI; Pals G; Breuning MH
Clin Genet; 2013 Apr; 83(4):337-44. PubMed ID: 22803640
[TBL] [Abstract][Full Text] [Related]
11. Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.
Wolford BN; Hornsby WE; Guo D; Zhou W; Lin M; Farhat L; McNamara J; Driscoll A; Wu X; Schmidt EM; Norton EL; Mathis MR; Ganesh SK; Douville NJ; Brummett CM; Kitzman J; Chen YE; Kim K; Deeb GM; Patel H; Eagle KA; Milewicz DM; J Willer C; Yang B
Circ Genom Precis Med; 2019 Jun; 12(6):e002476. PubMed ID: 31211624
[TBL] [Abstract][Full Text] [Related]
12. Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Weerakkody R; Ross D; Parry DA; Ziganshin B; Vandrovcova J; Gampawar P; Abdullah A; Biggs J; Dumfarth J; Ibrahim Y; ; Bicknell C; Field M; Elefteriades J; Cheshire N; Aitman TJ
Genet Med; 2018 Nov; 20(11):1414-1422. PubMed ID: 29543232
[TBL] [Abstract][Full Text] [Related]
13. Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
Wischmeijer A; Van Laer L; Tortora G; Bolar NA; Van Camp G; Fransen E; Peeters N; di Bartolomeo R; Pacini D; Gargiulo G; Turci S; Bonvicini M; Mariucci E; Lovato L; Brusori S; Ritelli M; Colombi M; Garavelli L; Seri M; Loeys BL
Am J Med Genet A; 2013 May; 161A(5):1028-35. PubMed ID: 23554019
[TBL] [Abstract][Full Text] [Related]
14. A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality.
Maeda Y; Takasawa K; Ishii T; Nagashima A; Mouri M; Kunieda J; Morisaki H; Ito T; Mori M; Kashimada K; Doi S; Morio T
Cardiology; 2019; 144(1-2):53-59. PubMed ID: 31587008
[TBL] [Abstract][Full Text] [Related]
15. Novel TGFBR2 and known missense SMAD3 mutations: two case reports of thoracic aortic aneurysms.
Panesi P; Foffa I; Sabina S; Ait Ali L; Andreassi MG
Ann Thorac Surg; 2015 Jan; 99(1):303-5. PubMed ID: 25555948
[TBL] [Abstract][Full Text] [Related]
16. Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.
Proost D; Vandeweyer G; Meester JA; Salemink S; Kempers M; Ingram C; Peeters N; Saenen J; Vrints C; Lacro RV; Roden D; Wuyts W; Dietz HC; Mortier G; Loeys BL; Van Laer L
Hum Mutat; 2015 Aug; 36(8):808-14. PubMed ID: 25907466
[TBL] [Abstract][Full Text] [Related]
17. A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms.
Courtois A; Coppieters W; Bours V; Defraigne JO; Colige A; Sakalihasan N
Eur J Med Genet; 2017 Apr; 60(4):228-231. PubMed ID: 28185953
[TBL] [Abstract][Full Text] [Related]
18. Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation.
Ware SM; Shikany A; Landis BJ; James JF; Hinton RB
Pediatrics; 2014 Oct; 134(4):e1218-23. PubMed ID: 25225139
[TBL] [Abstract][Full Text] [Related]
19. A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Chesneau B; Plancke A; Rolland G; Marcheix B; Dulac Y; Edouard T; Plaisancié J; Aubert-Mucca M; Julia S; Langeois M; Lavabre-Bertrand T; Khau Van Kien P
Mol Genet Genomic Med; 2021 Nov; 9(11):e1814. PubMed ID: 34672437
[TBL] [Abstract][Full Text] [Related]
20. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.
Loscalzo ML; Goh DL; Loeys B; Kent KC; Spevak PJ; Dietz HC
Am J Med Genet A; 2007 Sep; 143A(17):1960-7. PubMed ID: 17676603
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
