Similar articles for PMID: 15241795

Year	Number of Results
1991	1
1992	3
1993	1
1994	6
1995	2
1996	7
1997	4
1998	5
1999	5
2000	6
2001	10
2002	14
2003	5
2004	9
2005	5
2006	13
2007	20
2008	12
2009	23
2010	23
2011	15
2012	17
2013	16
2014	21
2015	25
2016	24
2017	18
2018	20
2019	14
2020	20
2021	27
2022	16
2023	8
2024	0

1

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

2

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, Singh KK, Schmidtke J, Arslan-Kirchner M. Rommel K, et al. Hum Mutat. 2005 Dec;26(6):529-39. doi: 10.1002/humu.20239. Hum Mutat. 2005. PMID: 16220557

3

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

4

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

5

Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.

Attanasio M, Pratelli E, Porciani MC, Evangelisti L, Torricelli E, Pellicanò G, Abbate R, Gensini GF, Pepe G. Attanasio M, et al. Eur J Med Genet. 2013 Jul;56(7):356-60. doi: 10.1016/j.ejmg.2013.04.006. Epub 2013 May 15. Eur J Med Genet. 2013. PMID: 23684891

6

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.

Mátyás G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. Mátyás G, et al. Hum Mutat. 2002 Apr;19(4):443-56. doi: 10.1002/humu.10054. Hum Mutat. 2002. PMID: 11933199

7

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. Arbustini E, et al. Hum Mutat. 2005 Nov;26(5):494. doi: 10.1002/humu.9377. Hum Mutat. 2005. PMID: 16222657

8

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani M, Fattori R, Anichini C, Abbate R, Gensini G, Pepe G. Attanasio M, et al. Clin Genet. 2008 Jul;74(1):39-46. doi: 10.1111/j.1399-0004.2008.01007.x. Epub 2008 Apr 22. Clin Genet. 2008. PMID: 18435798

9

The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.

Li D, Yu J, Gu F, Pang X, Ma X, Li R, Liu N, Ma X. Li D, et al. Genet Test. 2008 Jun;12(2):325-30. doi: 10.1089/gte.2008.0002. Genet Test. 2008. PMID: 18471089

10

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

Körkkö J, Kaitila I, Lönnqvist L, Peltonen L, Ala-Kokko L. Körkkö J, et al. J Med Genet. 2002 Jan;39(1):34-41. doi: 10.1136/jmg.39.1.34. J Med Genet. 2002. PMID: 11826022 Free PMC article.

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