Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 527

1.

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.

PMID:
8136837
2.

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.

PMID:
8188302
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.

Genet Test. 2008 Jun;12(2):325-30. doi: 10.1089/gte.2008.0002.

PMID:
18471089
4.

Ectopia lentis phenotypes and the FBN1 gene.

Adès LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B.

Am J Med Genet A. 2004 Apr 30;126A(3):284-9. Review.

PMID:
15054843
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.

Arch Intern Med. 2001 Nov 12;161(20):2447-54.

PMID:
11700157
6.

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 24;53(8):4889-96. doi: 10.1167/iovs.12-9874.

PMID:
22736615
7.

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.

PMID:
16220557
8.

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.

J Med Genet. 2002 Jan;39(1):34-41.

9.

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 24;13:1280-4.

PMID:
17679947
10.

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. Review.

PMID:
12203987
11.

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. doi: 10.1111/cge.12358. Epub 2014 Mar 6.

PMID:
24635535
12.

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.

13.

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. Epub 2012 Jul 18.

14.
15.

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. doi: 10.1002/ajmg.a.32593.

PMID:
19161152
16.

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 Jun 12;20:812-21. eCollection 2014.

17.

Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.

Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE, Kozman HM, Mulley JC.

Am J Med Genet. 1994 Oct 15;53(1):65-71.

PMID:
7802039
18.

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.

Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U.

Hum Mol Genet. 1993 Nov;2(11):1813-21.

PMID:
8281141
19.

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.

PMID:
11071382
20.

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. Epub 2009 Apr 23.

Supplemental Content

Support Center