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Similar articles for PubMed (Select 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. doi: 10.1089/gte.2008.0002.

PMID:
18471089
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 24;13:1280-4.

PMID:
17679947
3.

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
4.

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.

5.

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
6.

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
7.

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
8.
9.

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
10.

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN.

Am J Med Genet. 2000 Mar 20;91(3):212-21.

PMID:
10756346
11.

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.

PMID:
14695540
12.

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.

13.

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.

14.

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani M, Fattori R, Anichini C, Abbate R, Gensini G, Pepe G.

Clin Genet. 2008 Jul;74(1):39-46. doi: 10.1111/j.1399-0004.2008.01007.x. Epub 2008 Apr 22.

PMID:
18435798
15.

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.

Am J Med Genet A. 2009 May;149A(5):854-60. doi: 10.1002/ajmg.a.32809.

PMID:
19353630
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.

PMID:
11071382
17.

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
18.

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
19.

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

Pepe G, Giusti B, Evangelisti L, Porciani MC, Brunelli T, Giurlani L, Attanasio M, Fattori R, Bagni C, Comeglio P, Abbate R, Gensini GF.

Clin Genet. 2001 Jun;59(6):444-50.

PMID:
11453977
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