SEARCH

SEARCH BY CITATION

REFERENCES

  • Aboul-ela F, Koh D, Tinoco Jr I, Martin FH. 1985. Base-base mismatches. Thermodynamics of double helix formation for dCA3XA3G + dCT3YT3G (X, Y = A,C,G,T). Nucleic Acids Res 13:48114824.
  • Ades LC, Haan EA, Colley AF, Richard RI. 1996. Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. J Med Genet 33:665671.
  • Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC. 1999. Revised genomic organization of FBN1 and significance for regulated gene expression. Genomics 56:7077.
  • Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, Bonaiti-Pellie C, Junien C, Boileau C. 1994. A second locus for Marfan syndrome maps to chromosome 3p24. 2-p25. Nat Genet 8:264268.
  • Collod-Beroud G, Beroud C, Ades L, Black C, Boxer M, Brock DJ, Holman KJ, De Paepe A, Francke U, Grau U, Hayward C, Klein HG, Liu W, Nuytinck L, Peltonen L, Alvarez Perez AB, Rantamaki T, Junien C, Boileau C. 1998. Marfan database (third edition): new mutations and new routines for the software. Nucleic Acids Res 26:223229.
  • Collod-Beroud G, Lackmy-Port-Lys M, Jondeau G, Mathieu M, Maingourd Y, Coulon M, Guillotel M, Junien C, Boileau C. 1999. Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Am J Hum Genet 65:917921.
  • De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. 1996. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417426.
  • Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, Stetten G, Meyers DA, Francomano CA. 1991. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352:337339.
  • Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. 1993. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17:468475.
  • Dietz HC, Pyeritz RE. 1995. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 4:17991809.
  • El-Aleem AA, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. 1999. Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. Mutation in Brief #260. Hum Mutat 14:181.
  • Finkbohner R, Johnston D, Crawford ES, Coselli J, Milewicz DM. 1995. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 91:728733.
  • Gray JR, Bridges AB, Faed MJ, Pringle T, Baines P, Dean J, Boxer M. 1994. Ascertainment and severity of Marfan syndrome in a Scottish population. J Med Genet 31:5154.
  • Gross E, Arnold N, Pfeifer K, Bandick K, Kiechle M. 2000. Identification of specific BRCA1 and BRCA2 variants by DHPLC. Hum Mutat 16:345353.
  • Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA. 1999. Molecular analysis of eight mutations in FBN1. Hum Genet 105:587597.
  • Halliday D, Hutchinson S, Lonie L, Hurst J, Firth H, Handford PA, Wordsworth P. 2002. Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet, in press .
  • Hayward C, Rae AL, Porteous ME, Logie LJ, Brock DJ. 1994. Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. Hum Mol Genet 3:373375.
  • Hewett DR, Lynch JR, Godfrey M, Sykes BC. 1991. G/A polymorphism in an intron of the fibrillin gene FBNI. Nucleic Acids Res 19:6975.
  • Huber CG, Premstaller A, Xiao W, Oberacher H, Bonn GK, Oefner PJ. 2001. Mutation detection by capillary denaturing high-performance liquid chromatography using monolithic columns. J Biochem Biophys Methods 47:519.
  • Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner PJ, Cheadle JP, O’Donovan MC. 1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 45:11331140.
  • Jones AC, Sampson JR, Cheadle JP. 2001. Low level mosaicism detectable by DHPLC but not by direct sequencing. Hum Mutat 17:233234.
  • Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. 1990. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 323:935939.
  • Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. 1994. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 6:6469.
  • Karttunen L, Lönnqvist L, Godfrey M, Peltonen L, Syvänen AC. 1996. An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients’ fibroblasts. Genome Res 6:392403.
  • Ke SH, Wartell RM. 1993. Influence of nearest neighbor sequence on the stability of base pair mismatches in long DNA; determination by temperature-gradient gel electrophoresis. Nucleic Acids Res 21:51375143.
  • Liu W, Qian C, Comeau K, Brenn T, Furthmayr H, Francke U. 1996. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome. Hum Mol Genet 5:15811587.
  • Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. 1997. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test 1:237242.
  • Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD. 1998. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res 26:13961400.
  • Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. 2001. Genotype/phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene (FBN1) because of suspected Marfan syndrome (MFS). Arch Intern Med 161:24472454.
  • Lönnqvist L, Karttunen L, Rantamaki T, Kielty C, Raghunath M, Peltonen L. 1996. A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome. Genomics 36:468475.
  • Maquat LE. 1995. When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453465.
  • Maron BJ, Moller JH, Seidman CE, Vincent GM, Dietz HC, Moss AJ, Towbin JA, Sondheimer HM, Pyeritz RE, McGee G, Epstein AE. 1998. Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome. A statement for healthcare professionals from the councils on clinical cardiology, cardiovascular disease in the young, and basic science, American Heart Association. Circulation 98:14601471.
  • Mátyás G, Giunta C, Steinmann B, Hossle JP, Hellwig R. 2001. Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis. Hum Mutat 19:5868.
  • Nagy E, Maquat LE. 1998. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 23:198199.
  • Narayanaswami G, Taylor PD. 2001. Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure. Genet Test 5:916.
  • Newcombe RG. 1998. Two-sided confidence intervals for the single proportion: comparison of seven methods. Stat Med 17:857872.
  • Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. 1995. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 57:821.
  • Nollau P, Wagener C. 1997. Methods for detection of point mutations: performance and quality assessment. Clin Chem 43:11141128.
  • Oefner PJ, Underhill PA. 1995. Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC). Am J Hum Genet 57(Suppl):A266.
  • Pereira L, D’Alessio M, Ramirez F, Lynch JR, Sykes B, Pangilinan T, Bonadio J. 1993. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet 2:961968, 1762.
  • Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. 1996. Delineation of the Marfan phenotype associated with mutations in exons 23–32 of the FBN1 gene. Am J Med Genet 62:233242.
  • Pyeritz RE. 2000. The Marfan syndrome. Annu Rev Med 51:481510.
  • Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. 1999. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 65:10071020.
  • Sokal RR, Rohlf FJ. 1995. Biometry: the principles and practice of statistics in biological research. New York: W.H. Freeman and Co. p 139140.
  • Spiegelman JI, Mindrinos MN, Oefner PJ. 2000. High-accuracy DNA sequence variation screening by DHPLC. Biotechniques 29:10841090, 1092.
  • Underhill PA, Jin L, Lin AA, Mehdi SQ, Jenkins T, Vollrath D, Davis RW, Cavalli-Sforza LL, Oefner PJ. 1997. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res 7:9961005.
  • Valentine CR. 1998. The association of nonsense codons with exon skipping. Mutat Res 411:87117.
  • Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pages S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A, Oefner P. 1999. Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 62:369376.
  • Wilson EB. 1927. Probable inference, the law of succession, and statistical inference. J Am Stat Assoc 22:209212.
  • Xiao W, Oefner PJ. 2001. Denaturing high-performance liquid chromatography: a review. Hum Mutat 17:439474.
  • Xiao W, Stern D, Jain M, Huber CG, Oefner PJ. 2001. Multiplex capillary denaturing high-performance liquid chromatography with laser-induced fluorescence detection. Biotechniques 30:13321338.
  • Yuan B, Thomas JP, von Kodolitsch Y, Pyeritz RE. 1999. Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1. Hum Mutat 14:440446.