Similar articles for PMID: 31730815

Year	Number of Results
1994	1
1995	1
1997	1
2000	1
2001	5
2002	4
2004	4
2005	2
2006	4
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2008	4
2009	5
2010	5
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2012	10
2013	8
2014	9
2015	12
2016	24
2017	21
2018	24
2019	30
2020	39
2021	52
2022	40
2023	16
2024	1

1

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

2

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

3

FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies.

Madar L, Szakszon K, Pfliegler G, Szabó GP, Brúgós B, Ronen N, Papp J, Zahuczky K, Szakos E, Fekete G, Oláh É, Koczok K, Balogh I. Madar L, et al. J Biotechnol. 2019 Aug 10;301:105-111. doi: 10.1016/j.jbiotec.2019.05.012. Epub 2019 Jun 1. J Biotechnol. 2019. PMID: 31163209

4

Identification of gross deletions in FBN1 gene by MLPA.

Yang H, Ma Y, Luo M, Zhao K, Zhang Y, Zhu G, Sun X, Luo F, Wang L, Shu C, Zhou Z. Yang H, et al. Hum Genomics. 2018 Oct 4;12(1):46. doi: 10.1186/s40246-018-0178-y. Hum Genomics. 2018. PMID: 30286810 Free PMC article.

5

Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.

Baudhuin LM, Kotzer KE, Lagerstedt SA. Baudhuin LM, et al. J Hum Genet. 2015 May;60(5):241-52. doi: 10.1038/jhg.2015.10. Epub 2015 Feb 5. J Hum Genet. 2015. PMID: 25652356

6

Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.

Gong B, Yang L, Wang Q, Ye Z, Guo X, Yang C, Hao F, Shi Y, Huang Y, Qu C, Yang Z. Gong B, et al. Mol Genet Genomic Med. 2019 Apr;7(4):e00594. doi: 10.1002/mgg3.594. Epub 2019 Mar 5. Mol Genet Genomic Med. 2019. PMID: 30838813 Free PMC article.

7

Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome.

De Cario R, Sticchi E, Lucarini L, Attanasio M, Nistri S, Marcucci R, Pepe G, Giusti B. De Cario R, et al. J Vasc Surg. 2018 Jul;68(1):225-233.e5. doi: 10.1016/j.jvs.2017.04.071. Epub 2017 Aug 26. J Vasc Surg. 2018. PMID: 28847661 Free article.

8

Revised Ghent Criteria is Comparable to Original Diagnostic Criteria for Marfan Syndrome with Increased Ability to Clinically Diagnose Related Disorders.

Penpattharakul W, Pithukpakorn M. Penpattharakul W, et al. J Med Assoc Thai. 2016 Jan;99(1):34-9. J Med Assoc Thai. 2016. PMID: 27455822

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. Yang H, et al. Clin Chim Acta. 2016 Aug 1;459:30-35. doi: 10.1016/j.cca.2016.05.021. Epub 2016 May 24. Clin Chim Acta. 2016. PMID: 27234404

10

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A. Loeys B, et al. Hum Mutat. 2004 Aug;24(2):140-6. doi: 10.1002/humu.20070. Hum Mutat. 2004. PMID: 15241795

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