| 1 |
35154271 | Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection. | 2022 |
1 |
| 2 |
33082559 | Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases. | 2021 Feb |
1 |
| 3 |
33731877 | Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants. | 2021 Jul |
2 |
| 4 |
35237611 | Cysteine Substitution and Calcium-Binding Mutations in FBN1 cbEGF-Like Domains Are Associated With Severe Ocular Involvement in Patients With Congenital Ectopia Lentis. | 2021 |
1 |
| 5 |
31190185 | Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1. | 2019 Dec |
1 |
| 6 |
28588436 | Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning. | 2017 May |
2 |
| 7 |
28901407 | Colon cancer recurrence‑associated genes revealed by WGCNA co‑expression network analysis. | 2017 Nov |
2 |
| 8 |
27138491 | A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum. | 2016 Apr 30 |
2 |
| 9 |
25966184 | A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome. | 2015 Apr 27 |
1 |
| 10 |
24504995 | Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg). | 2014 Jun |
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| 11 |
25337071 | A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features. | 2014 Aug |
2 |
| 12 |
22772377 | Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. | 2013 Jan |
1 |
| 13 |
23592911 | Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families. | 2013 |
1 |
| 14 |
22539873 | A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. | 2012 |
1 |
| 15 |
22876116 | Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome. | 2012 |
1 |
| 16 |
21063442 | The clinical spectrum of complete FBN1 allele deletions. | 2011 Mar |
1 |
| 17 |
21932315 | Ectopia lentis as the presenting and primary feature in Marfan syndrome. | 2011 Nov |
1 |
| 18 |
19889633 | Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin. | 2010 Jan 8 |
2 |
| 19 |
18379569 | A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome. | 2008 Apr |
1 |
| 20 |
18471089 | The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus. | 2008 Jun |
1 |
| 21 |
17679947 | Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. | 2007 Jul 24 |
2 |
| 22 |
16765689 | Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. | 2006 Jun |
1 |
| 23 |
16222666 | Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome. | 2005 Nov 15 |
1 |
| 24 |
14586646 | Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature. | 2004 Jan |
1 |
| 25 |
15161917 | Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. | 2004 Jul 30 |
3 |
| 26 |
15371449 | Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1. | 2004 Dec 3 |
1 |
| 27 |
12651868 | Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. | 2003 Apr 1 |
1 |
| 28 |
14607119 | Solution structure of the third TB domain from LTBP1 provides insight into assembly of the large latent complex that sequesters latent TGF-beta. | 2003 Nov 21 |
1 |
| 29 |
12446365 | Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. | 2002 Dec |
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| 30 |
10993712 | A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency. | 2000 Aug |
2 |
| 31 |
10189089 | Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome. | 1999 Feb |
1 |
| 32 |
10486319 | Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. | 1999 Oct |
3 |
| 33 |
10647894 | Molecular analysis of eight mutations in FBN1. | 1999 Dec |
1 |
| 34 |
9746367 | Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene. | 1998 Aug 15 |
1 |
| 35 |
10909777 | Secondary structure of a fibrillin-1 eight-cysteine motif. | 1998 Feb |
1 |
| 36 |
7622614 | Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly. | 1995 Mar |
2 |
| 37 |
8040326 | An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome. | 1994 Aug |
1 |
| 38 |
8281141 | Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. | 1993 Nov |
1 |
| 39 |
1301946 | Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. | 1992 |
1 |