11700157 14695540 24161884 25907466 19159394 27611364 27146836 10464652 17657824 26333736 24833718 17627385 19293843 21907952[uid] - Search Results

Year	Number of Results
1997	1
2001	1
2004	1
2007	2
2009	2
2011	1
2013	1
2014	2
2015	2
2016	2
2024	0

1

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Loeys B, et al. Arch Intern Med. 2001 Nov 12;161(20):2447-54. doi: 10.1001/archinte.161.20.2447. Arch Intern Med. 2001. PMID: 11700157

2

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

Biggin A, Holman K, Brett M, Bennetts B, Adès L. Biggin A, et al. Hum Mutat. 2004 Jan;23(1):99. doi: 10.1002/humu.9207. Hum Mutat. 2004. PMID: 14695540

3

Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.

Aalberts JJ, van Tintelen JP, Meijboom LJ, Polko A, Jongbloed JD, van der Wal H, Pals G, Osinga J, Timmermans J, de Backer J, Bakker MK, van Veldhuisen DJ, Hofstra RM, Mulder BJ, van den Berg MP. Aalberts JJ, et al. Gene. 2014 Jan 15;534(1):40-3. doi: 10.1016/j.gene.2013.10.033. Epub 2013 Oct 24. Gene. 2014. PMID: 24161884

4

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

5

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.

Söylen B, Singh KK, Abuzainin A, Rommel K, Becker H, Arslan-Kirchner M, Schmidtke J. Söylen B, et al. Clin Genet. 2009 Mar;75(3):265-70. doi: 10.1111/j.1399-0004.2008.01126.x. Epub 2009 Jan 20. Clin Genet. 2009. PMID: 19159394

6

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Yang H, Luo M, Fu Y, Cao Y, Yin K, Li W, Meng C, Ma Y, Zhang J, Fan Y, Shu C, Chang Q, Zhou Z. Yang H, et al. Sci Rep. 2016 Sep 9;6:33002. doi: 10.1038/srep33002. Sci Rep. 2016. PMID: 27611364 Free PMC article.

7

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Poninska JK, Bilinska ZT, Franaszczyk M, Michalak E, Rydzanicz M, Szpakowski E, Pollak A, Milanowska B, Truszkowska G, Chmielewski P, Sioma A, Janaszek-Sitkowska H, Klisiewicz A, Michalowska I, Makowiecka-Ciesla M, Kolsut P, Stawinski P, Foss-Nieradko B, Szperl M, Grzybowski J, Hoffman P, Januszewicz A, Kusmierczyk M, Ploski R. Poninska JK, et al. J Transl Med. 2016 May 4;14(1):115. doi: 10.1186/s12967-016-0870-4. J Transl Med. 2016. PMID: 27146836 Free PMC article.

8

Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.

Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. Liu WO, et al. Genet Test. 1997-1998;1(4):237-42. doi: 10.1089/gte.1997.1.237. Genet Test. 1997. PMID: 10464652

9

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

10

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. Haller G, et al. J Bone Joint Surg Am. 2015 Sep 2;97(17):1411-7. doi: 10.2106/JBJS.O.00290. J Bone Joint Surg Am. 2015. PMID: 26333736 Free PMC article.

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