These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 11992479)

  • 1. Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.
    Adès LC; Sreetharan D; Onikul E; Stockton V; Watson KC; Holman KJ
    Am J Med Genet; 2002 May; 109(4):261-70. PubMed ID: 11992479
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
    Tiecke F; Katzke S; Booms P; Robinson PN; Neumann L; Godfrey M; Mathews KR; Scheuner M; Hinkel GK; Brenner RE; Hövels-Gürich HH; Hagemeier C; Fuchs J; Skovby F; Rosenberg T
    Eur J Hum Genet; 2001 Jan; 9(1):13-21. PubMed ID: 11175294
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
    Black C; Withers AP; Gray JR; Bridges AB; Craig A; Baty DU; Boxer M
    Hum Mutat; 1998; Suppl 1():S198-200. PubMed ID: 9452085
    [No Abstract]   [Full Text] [Related]  

  • 4. Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
    Comeglio P; Evans AL; Brice GW; Child AH
    Hum Mutat; 2001 Dec; 18(6):546-7. PubMed ID: 11748851
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
    Katzke S; Booms P; Tiecke F; Palz M; Pletschacher A; Türkmen S; Neumann LM; Pregla R; Leitner C; Schramm C; Lorenz P; Hagemeier C; Fuchs J; Skovby F; Rosenberg T; Robinson PN
    Hum Mutat; 2002 Sep; 20(3):197-208. PubMed ID: 12203992
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.
    Chikumi H; Yamamoto T; Ohta Y; Nanba E; Nagata K; Ninomiya H; Narasaki K; Katoh T; Hisatome I; Ono K; Tanaka Y; Kuroda H; Ohgi S
    J Hum Genet; 2000; 45(2):115-8. PubMed ID: 10721679
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.
    Challa P; Hauser MA; Luna CC; Freedman SF; Pericak-Vance M; Yang J; McDonald MT; Allingham RR
    Mol Vis; 2006 Aug; 12():1009-15. PubMed ID: 16971892
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The FBN1 (R2726W) mutation is not fully penetrant.
    Buoni S; Zannolli R; Macucci F; Ansaldi S; Grasso M; Arbustini E; Fois A
    Ann Hum Genet; 2004 Nov; 68(Pt 6):633-8. PubMed ID: 15598221
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
    Milewicz DM; Grossfield J; Cao SN; Kielty C; Covitz W; Jewett T
    J Clin Invest; 1995 May; 95(5):2373-8. PubMed ID: 7738200
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
    de Vries BB; Pals G; Odink R; Hamel BC
    Eur J Hum Genet; 2007 Sep; 15(9):930-5. PubMed ID: 17568394
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
    Rommel K; Karck M; Haverich A; Schmidtke J; Arslan-Kirchner M
    Hum Mutat; 2002 Nov; 20(5):406-7. PubMed ID: 12402346
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 11139245
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
    Putnam EA; Cho M; Zinn AB; Towbin JA; Byers PH; Milewicz DM
    Am J Med Genet; 1996 Mar; 62(3):233-42. PubMed ID: 8882780
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome.
    Ikebuchi M; Yamamoto T; Chikumi H; Tanaka Y; Nanba E; Kuroda H; Ohgi S
    Hum Mutat; 2000 Mar; 15(3):298. PubMed ID: 10679954
    [No Abstract]   [Full Text] [Related]  

  • 19. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
    Arbustini E; Grasso M; Ansaldi S; Malattia C; Pilotto A; Porcu E; Disabella E; Marziliano N; Pisani A; Lanzarini L; Mannarino S; Larizza D; Mosconi M; Antoniazzi E; Zoia MC; Meloni G; Magrassi L; Brega A; Bedeschi MF; Torrente I; Mari F; Tavazzi L
    Hum Mutat; 2005 Nov; 26(5):494. PubMed ID: 16222657
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome.
    Judge DP; Biery NJ; Dietz HC
    Am J Med Genet; 2001 Feb; 99(1):39-47. PubMed ID: 11170092
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.