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Quoted phrase not found in phrase index: "Aortic aneurysm, familial thoracic 10"
Page 1
ELN gene triplication responsible for familial supravalvular aortic aneurysm.
Guemann AS, Andrieux J, Petit F, Halimi E, Bouquillon S, Manouvrier-Hanu S, Van De Kamp J, Boileau C, Hanna N, Jondeau G, Vaksmann G, Houfflin-Debarge V, Holder-Espinasse M. Guemann AS, et al. Cardiol Young. 2015 Apr;25(4):712-7. doi: 10.1017/S1047951114000766. Epub 2014 Jun 16. Cardiol Young. 2015. PMID: 24932728
Of the 17 individuals from this family, 11 have the triplication. Of the 11 individuals with the triplication, 10 were identified to have a supravalvular aortic aneurysm. Of them, two individuals received a medical treatment and one individual needed surgery. ...
Of the 17 individuals from this family, 11 have the triplication. Of the 11 individuals with the triplication, 10 were identified to …
Do Familial Aortic Dissections Tend to Occur at the Same Age?
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA. Chou AS, et al. Ann Thorac Surg. 2017 Feb;103(2):546-550. doi: 10.1016/j.athoracsur.2016.06.007. Epub 2016 Aug 25. Ann Thorac Surg. 2017. PMID: 27570161
Cluster analysis indicated that age at onset of family dissectors increases as age of proband dissector increases. More than 50% of familial dissections occurred within 10 years of the median onset age for any given age decade. For familial dissectors with onset age of 30 …
Cluster analysis indicated that age at onset of family dissectors increases as age of proband dissector increases. More than 50% of familial …
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. Arnaud P, et al. Genet Med. 2019 Sep;21(9):2015-2024. doi: 10.1038/s41436-019-0444-y. Epub 2019 Feb 11. Genet Med. 2019. PMID: 30739908 Free article.
RESULTS: Class 4 or 5 variants were identified in 18% of the nshTAAD probands, while class 3 variants were found in 10% of them. The yield in familial cases was greater than in sporadic cases. ...
RESULTS: Class 4 or 5 variants were identified in 18% of the nshTAAD probands, while class 3 variants were found in 10% of them. The …
Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next-generation sequencing.
Pan M, Chen S, Wang H, Wu S, Ding Z, Wang Y, Li L, Li Z, Liu Q. Pan M, et al. Clin Genet. 2020 May;97(5):704-711. doi: 10.1111/cge.13729. Epub 2020 Mar 16. Clin Genet. 2020. PMID: 32154576
The DNA of 72 unrelated Han Chinese individuals with AD was tested by whole-exome sequencing. Of 142 AD-associated genes, 10 pathogenic variants, and 48 likely pathogenic variants in 36 genes were identified among 39 cases. ...
The DNA of 72 unrelated Han Chinese individuals with AD was tested by whole-exome sequencing. Of 142 AD-associated genes, 10 pathogen …
Clinical and genetic characterization of adult patients presenting with non-syndromic vascular aneurysms and dissections.
D'Souza RS, Slavov D, Graw S, Jirikowic J, Todd E, Rogers RK, Taylor MR. D'Souza RS, et al. Int Angiol. 2017 Oct;36(5):417-427. doi: 10.23736/S0392-9590.17.03757-9. Epub 2017 Jan 31. Int Angiol. 2017. PMID: 28139901 Free article.
A subset of patients underwent clinical genetic testing utilizing the Marfan/TAAD/Related disorders panel, and another subset was enrolled for research-based exome-sequencing. RESULTS: Thirty-two patients (10 men, 22 women) were classified as MAPS patients with an average …
A subset of patients underwent clinical genetic testing utilizing the Marfan/TAAD/Related disorders panel, and another subset was enrolled f …
C-reactive protein, not cardiac troponin T, improves risk prediction in hypertensives with type A aortic dissection.
Vrsalovic M, Zeljkovic I, Presecki AV, Pintaric H, Kruslin B. Vrsalovic M, et al. Blood Press. 2015;24(4):212-6. doi: 10.3109/08037051.2015.1025607. Epub 2015 May 2. Blood Press. 2015. PMID: 25936403
RESULTS: After multivariable adjustment, the independent predictors of outcome were age (OR = 1.09; 95% CI 1.02-1.18), treatment strategy (OR = 0.11; 95% CI 0.02-0.06) and C-reactive protein (CRP) either as binary (OR = 7.06; 95% CI 1.34-37.36) or continuous variable (OR = 1.1 …
RESULTS: After multivariable adjustment, the independent predictors of outcome were age (OR = 1.09; 95% CI 1.02-1.18), treatment strategy (O …
Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia.
Kim KH, Kim TY, Kim SJ, Cho YG, Park J, Jang W. Kim KH, et al. Genes (Basel). 2022 Nov 13;13(11):2108. doi: 10.3390/genes13112108. Genes (Basel). 2022. PMID: 36421783 Free PMC article.
Mutations of the FBN1 gene encoding fibrillin-1 are the most common genetic cause of Marfanoid habitus; however, about 10% of MFS patients are unaware of their genetic defects. Herein, we report a Korean patient with MFS and annuloaortic ectasia caused by an intronic c.522 …
Mutations of the FBN1 gene encoding fibrillin-1 are the most common genetic cause of Marfanoid habitus; however, about 10% of MFS pat …
11 results