Similar articles for PMID: 19002209

Year	Number of Results
1994	3
1995	1
1996	4
1997	4
1998	2
1999	4
2000	3
2001	5
2002	10
2003	1
2004	6
2005	4
2006	2
2007	6
2008	6
2009	9
2010	4
2011	5
2012	6
2013	6
2014	8
2015	6
2016	1
2019	1
2020	2
2021	9
2022	8
2024	0

1

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Faivre L, et al. Eur J Hum Genet. 2009 Apr;17(4):491-501. doi: 10.1038/ejhg.2008.207. Epub 2008 Nov 12. Eur J Hum Genet. 2009. PMID: 19002209 Free PMC article.

2

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Faivre L, et al. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 Jul 25. Am J Hum Genet. 2007. PMID: 17701892 Free PMC article.

3

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

4

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.

Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Kainulainen K, et al. Nat Genet. 1994 Jan;6(1):64-9. doi: 10.1038/ng0194-64. Nat Genet. 1994. PMID: 8136837

5

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

6

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM. Cecchi A, et al. Am J Med Genet A. 2013 Sep;161A(9):2305-10. doi: 10.1002/ajmg.a.36044. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897642 Free PMC article.

7

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Faivre L, et al. Am J Med Genet A. 2009 May;149A(5):854-60. doi: 10.1002/ajmg.a.32809. Am J Med Genet A. 2009. PMID: 19353630 Free article.

8

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

9

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.

Chao SC, Chen JS, Tsai CH, Lin JM, Lin YJ, Sun HS. Chao SC, et al. Clin Genet. 2010 May;77(5):453-63. doi: 10.1111/j.1399-0004.2009.01337.x. Epub 2010 Feb 4. Clin Genet. 2010. PMID: 20132243

10

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.

Turner CL, Emery H, Collins AL, Howarth RJ, Yearwood CM, Cross E, Duncan PJ, Bunyan DJ, Harvey JF, Foulds NC. Turner CL, et al. Am J Med Genet A. 2009 Feb;149A(2):161-70. doi: 10.1002/ajmg.a.32593. Am J Med Genet A. 2009. PMID: 19161152

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