237 related articles for article (PubMed ID: 25944730)
1. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W; VanSant-Webb C; Tvrdik T; Plant P; Lewis T; Stocks J; Raney JA; Meyers L; Berg A; Rope AF; Yetman AT; Bleyl SB; Mesley R; Bull DA; Collins RT; Ojeda MM; Roberts A; Lacro R; Woerner A; Stoler J; Bayrak-Toydemir P
Am J Med Genet A; 2015 Aug; 167A(8):1747-57. PubMed ID: 25944730
[TBL] [Abstract][Full Text] [Related]
2. Aortopathy in a Mouse Model of Marfan Syndrome Is Not Mediated by Altered Transforming Growth Factor β Signaling.
Wei H; Hu JH; Angelov SN; Fox K; Yan J; Enstrom R; Smith A; Dichek DA
J Am Heart Assoc; 2017 Jan; 6(1):. PubMed ID: 28119285
[TBL] [Abstract][Full Text] [Related]
3. Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Stengl R; Bors A; Ágg B; Pólos M; Matyas G; Molnár MJ; Fekete B; Csabán D; Andrikovics H; Merkely B; Radovits T; Szabolcs Z; Benke K
Orphanet J Rare Dis; 2020 Oct; 15(1):290. PubMed ID: 33059708
[TBL] [Abstract][Full Text] [Related]
4. A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.
Wooderchak-Donahue WL; O'Fallon B; Furtado LV; Durtschi JD; Plant P; Ridge PG; Rope AF; Yetman AT; Bayrak-Toydemir P
BMC Med Genomics; 2012 Nov; 5():50. PubMed ID: 23148498
[TBL] [Abstract][Full Text] [Related]
5. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Renner S; Schüler H; Alawi M; Kolbe V; Rybczynski M; Woitschach R; Sheikhzadeh S; Stark VC; Olfe J; Roser E; Seggewies FS; Mahlmann A; Hempel M; Hartmann MJ; Hillebrand M; Wieczorek D; Volk AE; Kloth K; Koch-Hogrebe M; Abou Jamra R; Mitter D; Altmüller J; Wey-Fabrizius A; Petersen C; Rau I; Borck G; Kubisch C; Mir TS; von Kodolitsch Y; Kutsche K; Rosenberger G
Genet Med; 2019 Aug; 21(8):1832-1841. PubMed ID: 30675029
[TBL] [Abstract][Full Text] [Related]
6. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
Vatti L; Fitzgerald-Butt SM; McBride KL
Am J Med Genet A; 2017 Nov; 173(11):2995-3002. PubMed ID: 28941062
[TBL] [Abstract][Full Text] [Related]
7. Long-term outcomes in heritable thoracic aortic disease.
Robertson EN; Bannon PG; Jeremy RW
Front Cardiovasc Med; 2022; 9():1009947. PubMed ID: 36312254
[TBL] [Abstract][Full Text] [Related]
8. Impact of Pathogenic
Takeda N; Inuzuka R; Maemura S; Morita H; Nawata K; Fujita D; Taniguchi Y; Yamauchi H; Yagi H; Kato M; Nishimura H; Hirata Y; Ikeda Y; Kumagai H; Amiya E; Hara H; Fujiwara T; Akazawa H; Suzuki JI; Imai Y; Nagai R; Takamoto S; Hirata Y; Ono M; Komuro I
Circ Genom Precis Med; 2018 Jun; 11(6):e002058. PubMed ID: 29848614
[TBL] [Abstract][Full Text] [Related]
9. Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.
Yang H; Luo M; Chen Q; Fu Y; Zhang J; Qian X; Sun X; Fan Y; Zhou Z; Chang Q
Clin Chim Acta; 2016 Aug; 459():30-35. PubMed ID: 27234404
[TBL] [Abstract][Full Text] [Related]
10. The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).
Lerner-Ellis JP; Aldubayan SH; Hernandez AL; Kelly MA; Stuenkel AJ; Walsh J; Joshi VA
Mol Genet Metab; 2014 Jun; 112(2):171-6. PubMed ID: 24793577
[TBL] [Abstract][Full Text] [Related]
11. Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation.
Herrick N; Davis C; Vargas L; Dietz H; Grossfeld P
Med Sci Sports Exerc; 2017 Jul; 49(7):1293-1296. PubMed ID: 28240702
[TBL] [Abstract][Full Text] [Related]
12. Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.
Haller G; Alvarado DM; Willing MC; Braverman AC; Bridwell KH; Kelly M; Lenke LG; Luhmann SJ; Gurnett CA; Dobbs MB
J Bone Joint Surg Am; 2015 Sep; 97(17):1411-7. PubMed ID: 26333736
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.
Faivre L; Masurel-Paulet A; Collod-Béroud G; Callewaert BL; Child AH; Stheneur C; Binquet C; Gautier E; Chevallier B; Huet F; Loeys BL; Arbustini E; Mayer K; Arslan-Kirchner M; Kiotsekoglou A; Comeglio P; Grasso M; Halliday DJ; Béroud C; Bonithon-Kopp C; Claustres M; Robinson PN; Adès L; De Backer J; Coucke P; Francke U; De Paepe A; Boileau C; Jondeau G
Pediatrics; 2009 Jan; 123(1):391-8. PubMed ID: 19117906
[TBL] [Abstract][Full Text] [Related]
15. [Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing].
Lu C; Wu W; Xiao J; Meng Y; Zhang S; Zhang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):301-4. PubMed ID: 23744319
[TBL] [Abstract][Full Text] [Related]
16. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J
Verh K Acad Geneeskd Belg; 2009; 71(6):335-71. PubMed ID: 20232788
[TBL] [Abstract][Full Text] [Related]
17. Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Mannucci L; Luciano S; Salehi LB; Gigante L; Conte C; Longo G; Ferradini V; Piumelli N; Brancati F; Ruvolo G; Novelli G; Sangiuolo F
Clin Chim Acta; 2020 Feb; 501():154-164. PubMed ID: 31730815
[TBL] [Abstract][Full Text] [Related]
18. Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
Zhurayev R; Proost D; Zerbino D; Fedorenko V; Meester JA; VAN Laer L; Loeys BL
Genet Res (Camb); 2016 Oct; 98():e13. PubMed ID: 27724990
[TBL] [Abstract][Full Text] [Related]
19. Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.
Wojcik MH; Thiele K; Grant CF; Chao K; Goodrich J; O'Donnell-Luria A; Lacro RV; Tan WH; Agrawal PB
J Pediatr; 2019 Oct; 213():235-240. PubMed ID: 31235381
[TBL] [Abstract][Full Text] [Related]
20. Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E; Marsili L; Baars MJH; Baas AF; van de Beek I; Dulfer E; van Hagen JM; Hilhorst-Hofstee Y; Kempers M; Krapels IP; Menke LA; Verhagen JMA; Yeung KK; Zwijnenburg PJG; Groenink M; van Rijn P; Weiss MM; Voorhoeve E; van Tintelen JP; Houweling AC; Maugeri A
Hum Mutat; 2018 Sep; 39(9):1173-1192. PubMed ID: 29907982
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
