Aragon-Martin JA - Search Results

1

Determining the genetic contribution in patients with non-syndromic ascending thoracic aortic aneurysms: Correlation with findings from computational pathology.

Salmasi MY, Morris-Rosendahl D, Jarral OA, Rosendahl U, Asimakopoulos G, Raja S, Aragon-Martin JA, Child A, Pepper J, Oo A, Athanasiou T; London Aortic Mechanobiology Working Group. Salmasi MY, et al. Among authors: aragon martin ja. Int J Cardiol. 2022 Nov 1;366:1-9. doi: 10.1016/j.ijcard.2022.07.010. Epub 2022 Jul 10. Int J Cardiol. 2022. PMID: 35830949

2

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

Aragon-Martin JA, Ahnood D, Charteris DG, Saggar A, Nischal KK, Comeglio P, Chandra A, Child AH, Arno G. Aragon-Martin JA, et al. Hum Mutat. 2010 Aug;31(8):E1622-31. doi: 10.1002/humu.21305. Hum Mutat. 2010. PMID: 20564469

3

Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.

Chandra A, Aragon-Martin JA, Sharif S, Parulekar M, Child A, Arno G. Chandra A, et al. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):78-82. doi: 10.3109/13816810.2012.710707. Epub 2012 Aug 7. Ophthalmic Genet. 2013. PMID: 22871183

4

Genetic testing in Marfan syndrome.

Child AH, Aragon-Martin JA, Sage K. Child AH, et al. Among authors: aragon martin ja. Br J Hosp Med (Lond). 2016 Jan;77(1):38-41. doi: 10.12968/hmed.2016.77.1.38. Br J Hosp Med (Lond). 2016. PMID: 26903455 Review.

5

Cardiovascular Management of Adults with Marfan Syndrome.

Isekame Y, Gati S, Aragon-Martin JA, Bastiaenen R, Kondapally Seshasai SR, Child A. Isekame Y, et al. Among authors: aragon martin ja. Eur Cardiol. 2016 Dec;11(2):102-110. doi: 10.15420/ecr/2016:19:2. Eur Cardiol. 2016. PMID: 30310455 Free PMC article. Review.

6

Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.

Mathieu H, Patten SA, Aragon-Martin JA, Ocaka L, Simpson M, Child A, Moldovan F. Mathieu H, et al. Among authors: aragon martin ja. Sci Rep. 2021 May 26;11(1):11026. doi: 10.1038/s41598-021-90155-0. Sci Rep. 2021. PMID: 34040021 Free PMC article.

7

Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort.

Mathieu H, Spataru A, Aragon-Martin JA, Child A, Barchi S, Fortin C, Parent S, Moldovan F. Mathieu H, et al. Among authors: aragon martin ja. Genes (Basel). 2021 Jul 1;12(7):1032. doi: 10.3390/genes12071032. Genes (Basel). 2021. PMID: 34356048 Free PMC article.

8

A phenotypic screen of Marfan syndrome iPSC-derived vascular smooth muscle cells uncovers GSK3β as a new target.

Davaapil H, McNamara M, Granata A, Macrae RGC, Hirano M, Fitzek M, Aragon-Martin JA, Child A, Smith DM, Sinha S. Davaapil H, et al. Among authors: aragon martin ja. Stem Cell Reports. 2023 Feb 14;18(2):555-569. doi: 10.1016/j.stemcr.2022.12.014. Epub 2023 Jan 19. Stem Cell Reports. 2023. PMID: 36669494 Free PMC article.

9

Exaggerated elastin turnover in young individuals with Marfan syndrome: new insights from the AIMS trial.

Iskandar Z, Dodd M, Huang J, Chin CWL, Stuart G, Caputo M, Clayton T, Child A, Jin XY, Aragon-Martin JA, Gibb J, Flather M, Choy AM. Iskandar Z, et al. Among authors: aragon martin ja. Eur Heart J Open. 2023 Oct 9;3(5):oead095. doi: 10.1093/ehjopen/oead095. eCollection 2023 Sep. Eur Heart J Open. 2023. PMID: 37829559 Free PMC article.

10

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A. Comeglio P, et al. Hum Mutat. 2007 Sep;28(9):928. doi: 10.1002/humu.9505. Hum Mutat. 2007. PMID: 17657824

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

18 results

Search Page

Filters