704 related articles for article (PubMed ID: 18471089)
1. 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
Genet Test; 2008 Jun; 12(2):325-30. PubMed ID: 18471089
[TBL] [Abstract][Full Text] [Related]
2. Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
Jin C; Yao K; Jiang J; Tang X; Shentu X; Wu R
Mol Vis; 2007 Jul; 13():1280-4. PubMed ID: 17679947
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Kainulainen K; Karttunen L; Puhakka L; Sakai L; Peltonen L
Nat Genet; 1994 Jan; 6(1):64-9. PubMed ID: 8136837
[TBL] [Abstract][Full Text] [Related]
4. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Chandra A; Aragon-Martin JA; Hughes K; Gati S; Reddy MA; Deshpande C; Cormack G; Child AH; Charteris DG; Arno G
Invest Ophthalmol Vis Sci; 2012 Jul; 53(8):4889-96. PubMed ID: 22736615
[TBL] [Abstract][Full Text] [Related]
5. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.
Micheal S; Khan MI; Akhtar F; Weiss MM; Islam F; Ali M; Qamar R; Maugeri A; den Hollander AI
Mol Vis; 2012; 18():1918-26. PubMed ID: 22876116
[TBL] [Abstract][Full Text] [Related]
6. Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families.
Zhao L; Liang T; Xu J; Lin H; Li D; Qi Y
Mol Vis; 2009; 15():826-32. PubMed ID: 19390640
[TBL] [Abstract][Full Text] [Related]
7. Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.
Fu Q; Liu P; Lu Q; Wang F; Wang H; Shen W; Xu F; Liu L; Sergeev YV; Sui R
Mol Vis; 2014; 20():812-21. PubMed ID: 24940037
[TBL] [Abstract][Full Text] [Related]
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
Hum Mutat; 2005 Dec; 26(6):529-39. PubMed ID: 16220557
[TBL] [Abstract][Full Text] [Related]
9. Ectopia lentis phenotypes and the FBN1 gene.
Adès LC; Holman KJ; Brett MS; Edwards MJ; Bennetts B
Am J Med Genet A; 2004 Apr; 126A(3):284-9. PubMed ID: 15054843
[TBL] [Abstract][Full Text] [Related]
10. 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
Arch Intern Med; 2001 Nov; 161(20):2447-54. PubMed ID: 11700157
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.
Meng B; Li H; Yang T; Huang S; Sun X; Yuan H
Mol Vis; 2011; 17():2421-7. PubMed ID: 21976953
[TBL] [Abstract][Full Text] [Related]
12. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Robinson PN; Booms P; Katzke S; Ladewig M; Neumann L; Palz M; Pregla R; Tiecke F; Rosenberg T
Hum Mutat; 2002 Sep; 20(3):153-61. PubMed ID: 12203987
[TBL] [Abstract][Full Text] [Related]
13. 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
Am J Med Genet A; 2009 Feb; 149A(2):161-70. PubMed ID: 19161152
[TBL] [Abstract][Full Text] [Related]
14. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
Comeglio P; Evans AL; Brice G; Cooling RJ; Child AH
Br J Ophthalmol; 2002 Dec; 86(12):1359-62. PubMed ID: 12446365
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation of the fibrillin gene causing ectopia lentis.
Lönnqvist L; Child A; Kainulainen K; Davidson R; Puhakka L; Peltonen L
Genomics; 1994 Feb; 19(3):573-6. PubMed ID: 8188302
[TBL] [Abstract][Full Text] [Related]
16. Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments.
Booms P; Tiecke F; Rosenberg T; Hagemeier C; Robinson PN
Hum Genet; 2000 Sep; 107(3):216-24. PubMed ID: 11071382
[TBL] [Abstract][Full Text] [Related]
17. The revised ghent nosology; reclassifying isolated ectopia lentis.
Chandra A; Patel D; Aragon-Martin JA; Pinard A; Collod-Béroud G; Comeglio P; Boileau C; Faivre L; Charteris D; Child AH; Arno G
Clin Genet; 2015 Mar; 87(3):284-7. PubMed ID: 24635535
[TBL] [Abstract][Full Text] [Related]
18. 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
Hum Mutat; 2004 Jan; 23(1):99. PubMed ID: 14695540
[TBL] [Abstract][Full Text] [Related]
19. Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.
Pepe G; Lapini I; Evangelisti L; Attanasio M; Giusti B; Lucarini L; Fattori R; Pellicanò G; Scrivanti M; Porciani MC; Abbate R; Gensini GF
Mol Vis; 2007 Nov; 13():2242-7. PubMed ID: 18087243
[TBL] [Abstract][Full Text] [Related]
20. 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
Am J Hum Genet; 1999 Oct; 65(4):1007-20. PubMed ID: 10486319
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]