Similar articles for PMID: 8894692

Year	Number of Results
1991	1
1992	2
1993	11
1994	13
1995	14
1996	12
1997	9
1998	6
1999	8
2000	8
2001	9
2002	8
2003	3
2004	3
2005	5
2006	3
2007	6
2008	6
2009	6
2010	6
2011	5
2012	5
2013	3
2014	3
2015	4
2016	3
2017	2
2018	2
2019	3
2020	4
2021	5
2022	7
2024	0

1

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.

Liu W, Qian C, Comeau K, Brenn T, Furthmayr H, Francke U. Liu W, et al. Hum Mol Genet. 1996 Oct;5(10):1581-7. doi: 10.1093/hmg/5.10.1581. Hum Mol Genet. 1996. PMID: 8894692

2

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.

Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Schrijver I, et al. Am J Hum Genet. 1999 Oct;65(4):1007-20. doi: 10.1086/302582. Am J Hum Genet. 1999. PMID: 10486319 Free PMC article.

3

Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.

Booms P, Cisler J, Mathews KR, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hagemeier C, Robinson PN. Booms P, et al. Clin Genet. 1999 Feb;55(2):110-7. doi: 10.1034/j.1399-0004.1999.550207.x. Clin Genet. 1999. PMID: 10189088

4

Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.

Chikumi H, Yamamoto T, Ohta Y, Nanba E, Nagata K, Ninomiya H, Narasaki K, Katoh T, Hisatome I, Ono K, Tanaka Y, Kuroda H, Ohgi S. Chikumi H, et al. J Hum Genet. 2000;45(2):115-8. doi: 10.1007/s100380050027. J Hum Genet. 2000. PMID: 10721679

5

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.

Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Dietz HC, et al. Hum Mutat. 1992;1(5):366-74. doi: 10.1002/humu.1380010504. Hum Mutat. 1992. PMID: 1301946

6

Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.

Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H. Aoyama T, et al. Hum Mol Genet. 1993 Dec;2(12):2135-40. doi: 10.1093/hmg/2.12.2135. Hum Mol Genet. 1993. PMID: 8111384

7

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Dietz HC, et al. Genomics. 1993 Aug;17(2):468-75. doi: 10.1006/geno.1993.1349. Genomics. 1993. PMID: 8406497 Free article.

8

Molecular analysis of eight mutations in FBN1.

Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA. Halliday D, et al. Hum Genet. 1999 Dec;105(6):587-97. doi: 10.1007/s004399900190. Hum Genet. 1999. PMID: 10647894

9

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B. Tjeldhorn L, et al. BMC Med Genet. 2015 Dec 18;16:113. doi: 10.1186/s12881-015-0260-4. BMC Med Genet. 2015. PMID: 26684006 Free PMC article.

10

Severe Marfan syndrome due to FBN1 exon deletions.

Blyth M, Foulds N, Turner C, Bunyan D. Blyth M, et al. Am J Med Genet A. 2008 May 15;146A(10):1320-4. doi: 10.1002/ajmg.a.32229. Am J Med Genet A. 2008. PMID: 18412115

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