170 related articles for article (PubMed ID: 30661052)
1.
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]
2. 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]
3. 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]
4. 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]
5. 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]
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. Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.
Chesneau B; Edouard T; Dulac Y; Colineaux H; Langeois M; Hanna N; Boileau C; Arnaud P; Chassaing N; Julia S; Jondeau G; Plancke A; Khau Van Kien P; Plaisancié J
Mol Genet Genomic Med; 2020 May; 8(5):e1132. PubMed ID: 32154675
[TBL] [Abstract][Full Text] [Related]
8. Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.
van der Linde D; van de Laar IM; Bertoli-Avella AM; Oldenburg RA; Bekkers JA; Mattace-Raso FU; van den Meiracker AH; Moelker A; van Kooten F; Frohn-Mulder IM; Timmermans J; Moltzer E; Cobben JM; van Laer L; Loeys B; De Backer J; Coucke PJ; De Paepe A; Hilhorst-Hofstee Y; Wessels MW; Roos-Hesselink JW
J Am Coll Cardiol; 2012 Jul; 60(5):397-403. PubMed ID: 22633655
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
Aubart M; Gobert D; Aubart-Cohen F; Detaint D; Hanna N; d'Indya H; Lequintrec JS; Renard P; Vigneron AM; Dieudé P; Laissy JP; Koch P; Muti C; Roume J; Cusin V; Grandchamp B; Gouya L; LeGuern E; Papo T; Boileau C; Jondeau G
PLoS One; 2014; 9(5):e96387. PubMed ID: 24804794
[TBL] [Abstract][Full Text] [Related]
11. Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
de Wagenaar NP; van den Bersselaar LM; Odijk HJHM; Stefens SJM; Reinhardt DP; Roos-Hesselink JW; Kanaar R; Verhagen JMA; Brüggenwirth HT; van de Laar IMBH; van der Pluijm I; Essers J
Hum Mol Genet; 2024 Jun; 33(12):1090-1104. PubMed ID: 38538566
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
van de Laar IM; van der Linde D; Oei EH; Bos PK; Bessems JH; Bierma-Zeinstra SM; van Meer BL; Pals G; Oldenburg RA; Bekkers JA; Moelker A; de Graaf BM; Matyas G; Frohn-Mulder IM; Timmermans J; Hilhorst-Hofstee Y; Cobben JM; Bruggenwirth HT; van Laer L; Loeys B; De Backer J; Coucke PJ; Dietz HC; Willems PJ; Oostra BA; De Paepe A; Roos-Hesselink JW; Bertoli-Avella AM; Wessels MW
J Med Genet; 2012 Jan; 49(1):47-57. PubMed ID: 22167769
[TBL] [Abstract][Full Text] [Related]
13. Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation.
Arroyave J; Carretero JM; Gruosso D
Cardiol Young; 2018 May; 28(5):765-767. PubMed ID: 29444731
[TBL] [Abstract][Full Text] [Related]
14. Novel pathogenic
Cannaerts E; Kempers M; Maugeri A; Marcelis C; Gardeitchik T; Richer J; Micha D; Beauchesne L; Timmermans J; Vermeersch P; Meyten N; Chénier S; van de Beek G; Peeters N; Alaerts M; Schepers D; Van Laer L; Verstraeten A; Loeys B
J Med Genet; 2019 Apr; 56(4):220-227. PubMed ID: 29967133
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
Guo DC; Regalado ES; Pinard A; Chen J; Lee K; Rigelsky C; Zilberberg L; Hostetler EM; Aldred M; Wallace SE; Prakash SK; ; Leal SM; Bamshad MJ; Nickerson DA; Natowicz M; Rifkin DB; Milewicz DM
Am J Hum Genet; 2018 Apr; 102(4):706-712. PubMed ID: 29625025
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.
Regalado ES; Morris SA; Braverman AC; Hostetler EM; De Backer J; Li R; Pyeritz RE; Yetman AT; Cervi E; Shalhub S; Jeremy R; LeMaire S; Ouzounian M; Evangelista A; Boileau C; Jondeau G; Milewicz DM
J Am Coll Cardiol; 2022 Aug; 80(9):857-869. PubMed ID: 36007983
[TBL] [Abstract][Full Text] [Related]
19. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
Guo DC; Regalado ES; Gong L; Duan X; Santos-Cortez RL; Arnaud P; Ren Z; Cai B; Hostetler EM; Moran R; Liang D; Estrera A; Safi HJ; ; Leal SM; Bamshad MJ; Shendure J; Nickerson DA; Jondeau G; Boileau C; Milewicz DM
Circ Res; 2016 Mar; 118(6):928-34. PubMed ID: 26838787
[TBL] [Abstract][Full Text] [Related]
20. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
Shalhub S; Byers PH; Hicks KL; Charlton-Ouw K; Zarkowsky D; Coleman DM; Davis FM; Regalado ES; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Behrendt CA; Debus ES; von Kodolitsch Y; Powell RJ; Pepin M; Milewicz DM; Lawrence PF; Woo K
J Vasc Surg; 2019 Nov; 70(5):1543-1554. PubMed ID: 31126764
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
