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Year | Number of Results |
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2007 | 1 |
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2020 | 1 |
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Page 1
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Hum Mutat. 2007 Sep;28(9):928. doi: 10.1002/humu.9505.
Hum Mutat. 2007.
PMID: 17657824
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C.
Stheneur C, et al.
Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18.
Eur J Hum Genet. 2009.
PMID: 19293843
Free PMC article.
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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.
Proost D, et al.
Hum Mutat. 2015 Aug;36(8):808-14. doi: 10.1002/humu.22802. Epub 2015 Jun 13.
Hum Mutat. 2015.
PMID: 25907466
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Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.
Fang M, Yu C, Chen S, Xiong W, Li X, Zeng R, Zhuang J, Fan R.
Fang M, et al.
Sci Rep. 2017 Aug 30;7(1):10035. doi: 10.1038/s41598-017-09785-y.
Sci Rep. 2017.
PMID: 28855619
Free PMC article.
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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.
Mannucci L, et al.
Clin Chim Acta. 2020 Feb;501:154-164. doi: 10.1016/j.cca.2019.10.037. Epub 2019 Nov 12.
Clin Chim Acta. 2020.
PMID: 31730815
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