My NCBI | Sign In
RSS Settings
  • Search:

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

    Results: 1 to 20 of 233

    1.

    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.PMID: 12446365 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    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.PMID: 18471089 [PubMed - indexed for MEDLINE]Related articles

    3.

    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 [PubMed - indexed for MEDLINE]Related articles

    4.

    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 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    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.PMID: 11826022 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    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 [PubMed - indexed for MEDLINE]Related articlesFree article

    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 [PubMed - indexed for MEDLINE]Related articles

    8.

    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 [PubMed - indexed for MEDLINE]Related articles

    9.

    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.PMID: 19390640 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

    Vanita V, Singh JR, Singh D, Varon R, Robinson PN, Sperling K.

    Mol Vis. 2007 Oct 25;13:2035-40.PMID: 18079676 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    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. Epub 2008 Apr 22.PMID: 18435798 [PubMed - indexed for MEDLINE]Related articles

    12.

    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 [PubMed - indexed for MEDLINE]Related articles

    13.

    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.PMID: 19353630 [PubMed - indexed for MEDLINE]Related articles

    14.

    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 29;13:2242-7.PMID: 18087243 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.

    Matsukawa R, Iida K, Nakayama M, Mukai T, Okita Y, Ando M, Takamoto S, Nakajima N, Morisaki H, Morisaki T.

    Hum Mutat. 2001;17(1):71-2.PMID: 11139245 [PubMed - indexed for MEDLINE]Related articles

    16.

    Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.

    Mátyás G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B.

    Hum Mutat. 2002 Apr;19(4):443-56.PMID: 11933199 [PubMed - indexed for MEDLINE]Related articles

    17.

    A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.

    Grau U, Klein HG, Detter C, Mair H, Welz A, Seidel D, Reichart B.

    Hum Mutat. 1998;12(2):137.PMID: 10694921 [PubMed - indexed for MEDLINE]Related articles

    18.

    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.PMID: 19161152 [PubMed - indexed for MEDLINE]Related articles

    19.

    Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

    Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A.

    Hum Mutat. 2004 Aug;24(2):140-6.PMID: 15241795 [PubMed - indexed for MEDLINE]Related articles

    20.

    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 [PubMed - indexed for MEDLINE]Related articles

    Supplemental Content

    Filter your results:

    Find related data

    Recent activity