BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 18087243)

  • 1. 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]  

  • 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. PubMed ID: 18471089
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
    Attanasio M; Pratelli E; Porciani MC; Evangelisti L; Torricelli E; Pellicanò G; Abbate R; Gensini GF; Pepe G
    Eur J Med Genet; 2013 Jul; 56(7):356-60. PubMed ID: 23684891
    [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. 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]  

  • 6. 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]  

  • 7. 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. PubMed ID: 11826022
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ectopia lentis as the presenting and primary feature in Marfan syndrome.
    Zadeh N; Bernstein JA; Niemi AK; Dugan S; Kwan A; Liang D; Hyland JC; Hoyme HE; Hudgins L; Manning MA
    Am J Med Genet A; 2011 Nov; 155A(11):2661-8. PubMed ID: 21932315
    [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. 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]  

  • 11. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
    Cecchi A; Ogawa N; Martinez HR; Carlson A; Fan Y; Penny DJ; Guo DC; Eisenberg S; Safi H; Estrera A; Lewis RA; Meyers D; Milewicz DM
    Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
    De Backer J
    Verh K Acad Geneeskd Belg; 2009; 71(6):335-71. PubMed ID: 20232788
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 22876116
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
    Aragon-Martin JA; Ahnood D; Charteris DG; Saggar A; Nischal KK; Comeglio P; Chandra A; Child AH; Arno G
    Hum Mutat; 2010 Aug; 31(8):E1622-31. PubMed ID: 20564469
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 13():2035-40. PubMed ID: 18079676
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 19353630
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.