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The FBN1 mutations database References |
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Ref #
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Medline ID
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Reference
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66
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Abd El-Aleem A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. Hum Mutation 1999 Aug 19;14(2):181. | |
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77
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-
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Ads L, Holman K, Watson K, Murrell M, Clarke J, Christodoulou J. Characterisation of an FBN1 gene mutation, G1013R, in a child with neonatal Marfan syndrome (nMFS) and mitochondrial complex I (CI) deficiency. Am J Hum Genet, Abstract 2367. |
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103
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Ads L, Sreetharan D, Onikul E, Stockton V, Watson K, Holman KJ. Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations. Am J Med Genet, 2002, 109: 261-270. | |
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36
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Ades LC, Haan EA, Colley AF, Richard RI. Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. J Med Genet 1996 Aug;33(8):665-71 | |
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72
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Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. Hum Mol Genet 1993 Dec;2(12):2135-40 | |
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37
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Black C, Withers AP, Gray JR, Bridges AB, Craig A, Baty DU, Boxer M. Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype. Hum Mutat 1998;Suppl 1(6):S198-200 | |
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52
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Booms P, Cisler J, Mathews KR, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hagemeier C, Robinson PN. Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome. Clin Genet 1999 Feb;55(2):110-7 | |
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31
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Booms P, Withers AP, Boxer M, Kaufmann UC, Hagemeier C, Vetter U, Robinson PN. A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. Hum Genet 1997 Aug;100(2):195-200 | |
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65
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Bresters D, Nikkels PG, Meijboom EJ, Hoorntje TM, Pals G, Beemer FA. Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. Acta Paediatr 1999 Jan;88(1):98-101 | |
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74
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Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. J Med Genet 1991 Apr;28(4):267-73 | |
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70
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Cherryl Black, Maureen Boxer (Personnal communication 2000) |
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79
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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. Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome. J Hum Genet 2000;45(2):115-8. | |
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87
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Christodoulou J, Petrova-Benedict R, Robinson BH, Jay V, Clarke JT. An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. Eur J Pediatr 1993 May;152(5):428-32. | |
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63
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-
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Collod-Beroud et al. (In preparation) |
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64
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Collod-Beroud et al. (In preparation) |
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62
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Collod-Beroud G, Lackmy-Port-Lys M, Jondeau G, Mathieu M, Maingourd Y, Coulon M, Guillotel M, Junien C, Boileau C. Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Am J Hum Genet 1999 Sep;65(3):917-21 | |
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111
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Collod-BŽroud in preparation |
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110
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Collod-BŽroud in prŽparation. |
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108
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Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br J Ophthalmol. 2002 Dec;86(12):1359-62. | |
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83
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Comeglio P, Evans AL, Brice GW and Child AH. Detection of six novel FBN1 mutations in british patients affected by Marfan syndrome. Human Mutation, Mutation in Brief#438 (2001) Online. | |
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109
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Comeglio P, Evans AL, Brice GW, Anderlid BM, Child AH. Gene symbol: FBN1. Disease: Marfan syndrome. Hum Genet. 2003 Jan;112(1):104. | |
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97
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Comeglio P., Evans A., Brice GW. and Child A. Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. Human mutation, 2001, Vol 18: 251. | |
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67
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-
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Dean J, Davidson C, Boxer M. Marfan syndrome, MASS phenotype and chromosome 3. J Med Genet 1996 33: abstract 5030 |
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1
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Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991 Jul 25;352 (6333):337-9 | |
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4
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Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 1993 Aug;17(2):468-75 | |
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3
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Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 1992 May;89(5):1674-80 | |
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2
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Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum Mutat 1992;1(5):366-74 | |
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5
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Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. The skipping of constitutive exons in vivo induced by nonsense mutations. Science 1993 Jan 29;259(5095):680-3 | |
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47
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-
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E. Arbustini, R. Fasani, M. Grasso, A. Pilotto, N. Bianchieri, R. Bergamaschi, F. Magani, D. Larizza, G. Cetta. Four novel mutations in the fibrillin gene in Marfan's syndrome patients. August 22-26 1998, Vienna, Austria. |
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106
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Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan;40(1):34-6. | |
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78
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Francke U, Berg MA, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller DC, Furthmayr H. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet 1995 Jun;56(6):1287-96. | |
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92
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Gardella R, Nuytinck L, Barlati S, Van Acker P, Tadini G, De Paepe A, Colombi M. Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient. Clin Exp Dermatol. 2001 Nov;26(8):710-3. | |
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56
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Gibson MA, Ellis SL, Ades LC, Haan E, Cleary EG. Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene. Eur J Biochem 1998 Aug 15;256(1):221-8 | |
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86
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Godfrey M, Raghunath M, Cisler J, Bevins CL, DePaepe A, Di Rocco M, Gregoritch J, Imaizumi K, Kaplan P, Kuroki Y, et al. Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome. Am J Pathol 1995 Jun;146(6):1414-21. | |
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6
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Godfrey M, Vandemark N, Wang M, Velinov M, Wargowski D, Tsipouras P, Han J, Becker J, Robertson W, Droste S, et al. Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. Am J Hum Genet 1993 Aug;53(2):472-80 | |
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32
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Grau U, Klein HG, Detter C, Mair H, Welz A, Seidel D, Reichart B. A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome. Hum Mutation. Mutation in Brief#163 Online, 1998;12(2):137. | |
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53
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Grau U, Mair H, Detter D, Seidel D, Reicharrt B, Klein HG. Molecular basis of the Marfan syndrome: Identification of molecular defects in the fibrillin-1 gene (FBN1) by SSCP and direct PCR-sequence analysis.4th International Symposium on Marfan syndrome, Davos, 1996, August 11-14. Abstract 43P. |
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76
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Gross DM, Robinson LK, Smith LT, Glass N, Rosenberg H, Duvic M. Severe perinatal Marfan syndrome. Pediatrics 1989 Jul;84(1):83-9 | |
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24
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-
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Grossfield J, Cao S; Milewicz DM. Characterization of mutations involving the carboxy-terminal domain of fibrillin-1 indicates a role of this domain in secretion in dermal fibroblasts (submitted). Am J Hum Genet 1993, 53 abstract 1167 |
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99
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Guo D, Tan FK, Cantu A, Plon SE, Milewicz DM. FBN1 exon 2 splicing error in a patient with Marfan syndrome. Am J Med Genet. 2001 Jun 15;101(2):130-4. | |
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58
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Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA. Molecular analysis of eight mutations in FBN1. Hum Genet 1999 Dec;105(6):587-97 | |
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88
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Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P. Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet 2002, 39: 589-593. |
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51
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Hayward C, Brock DJ. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. Hum Mutat 1997;10(6):415-23 | |
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23
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Hayward C, Porteous ME, Brock DJ. A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. Mol Cell Probes 1994 Aug;8(4):325-7 | |
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19
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Hayward C, Porteous ME, Brock DJ. Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques. Hum Mutat 1994;3(2):159-62 | |
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41
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Hayward C, Porteous ME, Brock DJ. Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations. Hum Mutat 1997;10(4):280-9 | |
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7
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Hayward C, Rae AL, Porteous ME, Logie LJ, Brock DJ. 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 1994 Feb;3(2):373-5 | |
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20
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Hewett DR, Lynch JR, Child A, Sykes BC. A new missense mutation of fibrillin in a patient with Marfan syndrome. J Med Genet 1994 Apr;31(4):338-9 | |
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8
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Hewett DR, Lynch JR, Smith R, Sykes BC. A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. Hum Mol Genet 1993 Apr;2(4):475-7 | |
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90
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Hutchinson S, Wordsworth BP, Handford PA. Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence. Hum Genet. 2001 Oct;109(4):416-20. | |
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105
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Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A. A recurring FBN1 gene mutation in neonatal Marfan syndrome. Arch Pediatr Adolesc Med. 2002 Nov;156(11):1081-5. | |
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102
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-
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James C. Hyland (personnal communication) |
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10
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Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 1994 Jan;6(1):64-9 | |
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9
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Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhanen L, Palotie A, Kaitila I, Peltonen L Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A 1992 Jul 1;89(13):5917-21 | |
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14
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Karttunen L, Raghunath M, Lonnqvist L, Peltonen L. A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. Am J Hum Genet 1994 Dec;55(6):1083-91 | |
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48
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Karttunen L, Ukkonen T, Kainulainen K, SyvŠnen A-C, Peltonen L. Two novel Fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotype. Hum M.utat 1998; Suppl 1(6):S34-37 | |
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95
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Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat. 2002 Sep;20(3):197-208. | |
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45
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Kielty CM, Rantamaki T, Child AH, Shuttleworth CA, Peltonen L. Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly. Cell Sci 1995 Mar;108 ( Pt 3):1317-23 | |
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69
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Kilpatrick MW, Lembessis P, Rose E, Tsipouras P. A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome. Hum Hered 1999 Jun;49(3):176-7 | |
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101
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Korkko J, Kaitila I, Lonnqvist L, Peltonen L, Ala-Kokko L. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. J Med Genet. 2002 Jan;39(1):34-41. | |
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40
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-
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Lesley Ades and Katherine J. Holman (personal communication 1997, NAR 1998) |
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71
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Lesley Ads, Katherine Holman (personal communication 2000) |
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28
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Liu W, Qian C, Comeau K, Brenn T, Furthmayr H, Francke U. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. Hum Mol Genet 1996 Oct;5(10):1581-7 | |
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42
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Liu W, Qian C, Francke U. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet 1997 Aug;16(4):328-9 | |
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91
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Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U. Multi-exon deletions of the FBN1 gene in Marfan syndrome. BMC Med Genet. 2001;2(1):11. | |
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54
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Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test 1997-98;1(4):237-42 | |
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94
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Lo IF, Wong RM, Lam FW, Tong TM, Lam ST. Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome. Chin Med J (Engl). 2001 May;114(5):473-6. | |
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89
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Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med. 2001 Nov 12;161(20):2447-54. | |
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13
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Lonnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L. A novel mutation of the fibrillin gene causing ectopia lentis. Genomics 1994 Feb;19(3):573-6 | |
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33
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Lonnqvist L, Karttunen L, Rantamaki T, Kielty C, Raghunath M, Peltonen L. A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome. Genomics 1996 Sep 15;36(3):468-75 | |
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55
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Matsukawa R, Iida K, Nakayama M, Mukai T, Okita Y, Ando M, Takamoto S, Nakajima N, Morisaki H, Morisaki T. Eight novel mutations of the FBN1 gene found in japanese patients with marfan syndrome. Hum Mutat 2001;17(1):71-2 | |
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98
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Matyas G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. 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. Hum Mutat. 2002,19:443-56. | |
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59
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McGrory J, Cole WG. Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome. Clin Genet 1999 Feb;55(2):118-21 | |
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22
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McInnes RR, Byers PH. Biochemical genetics: examples of life after cloning. Curr Opin Genet Dev 1993 Jun;3(3):475-83 | |
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15
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Milewicz DM, Duvic M. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am J Hum Genet 1994 Mar;54(3):447-53 | |
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16
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Milewicz DM, Grossfield J, Cao SN, Kielty C, Covitz W, Jewett T. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J Clin Invest 1995 May;95(5):2373-8 | |
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34
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Milewicz DM, Michael K, Fisher N, Coselli JS, Markello T, Biddinger A. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation 1996 Dec 1;94(11):2708-11 | |
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85
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Milewicz DM, Pyeritz RE, Crawford ES, Byers PH. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest 1992 Jan;89(1):79-86 | |
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60
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Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC. Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. Am J Hum Genet 1998 Dec;63(6):1703-11 | |
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46
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Ng DK, Chau KW, Black C, Thomas TM, Boxer M. Neonatal Marfan syndrome: a case report. J Paediatr Child Health1999 Jun;35(3):321-3 | |
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21
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Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 1995 Jul;57(1):8-21 | |
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100
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Oh MR, Kim JS, Beck NS, Yoo HW, Lee HJ, Kohsaka T, Jin DK. Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome. Pediatr Int. 2000 Oct;42(5):488-91. | |
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82
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Palz M, Tiecke F, Booms P, Goldner 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. Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation. Am J Med Genet 2000 Mar 20;91(3):212-21 | |
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50
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Pepe G, Giusti B, Attanasio M, Comeglio P, Porciani MC, Giurlani L, Montesi GF, Calamai GC, Vaccari M, Favilli S, Abbate R, Gensini GF. A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene. Mol Cell Cardiol 1997 Jul;29(7):1877-84 | |
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93
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Pepe G, Giusti B, Evangelisti L, Porciani MC, Brunelli T, Giurlani L, Attanasio M, Fattori R, Bagni C, Comeglio P, Abbate R, Gensini GF.Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. Clin Genet. 2001 Jun;59(6):444-50. | |
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39
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Perez AB, Pereira LV, Brunoni D, Zatz M, Passos-Bueno MR. Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online. Hum Mutat 1999;13(1):84 | |
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11
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Piersall LD, Dietz HC, Hall BD, Cadle RG, Pyeritz RE, Francomano CA, McIntosh I. Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. Hum Mol Genet 1994 Jun;3(6):1013-4 | |
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26
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Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet 1996 Mar 29;62(3):233-42 | |
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30
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Quan F, Sakai L, Popovich BW. The identification of fibrillin mutations in Marfan syndrome using heteroduplex analysis and nucleotide sequencing. Am J Hum Genet 1995, 57 abstract 1936 |
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84
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75
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43
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Rantamaki T, Kaitila I, Syvanen AC, Lukka M, Peltonen L. Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation. Am J Hum Genet 1999 Apr;64(4):993-1001 | |
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107
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Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. 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. Hum Mutat. 2002 Nov;20(5):406-7. | |
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Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Cysteine Substitutions in Epidermal Growth Factor-Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes. Am J Hum Genet 1999 Oct;65(4):1007-1020 | |
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104
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Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U. Premature termination mutations in FBN1: Distinct effects on Differencial allelic expression and on protein and clinical phenotypes. Am J Hum Genet, 2002, 71: 223-237. | |
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29
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Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet 1996 Feb;12(2):209-11 | |
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18
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Stahl-Hallengren C, Ukkonen T, Kainulainen K, Kristofersson U, Saxne T, Tornqvist K, Peltonen L. An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome. J Clin Invest 1994 Aug;94(2):709-13 | |
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68
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Terhi Rantamaki, Leena Peltonnen (Personal communication 2000) |
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80
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Tiecke F, Katzke S, Booms P, Robinson P, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hšvels-GŸrich H, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. Classic , early-onset severe and neonatal Marfan syndrome : Thirteen mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet 2001, 9:13. | |
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25
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-
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Tilsra DJ, Byers PH. A novel mutation in a non calcium binding EGF precursor-like motif in a family with the Marfan syndrome. Scientific Workshop of the Marfan syndrome, 1993, Oregon, abtract |
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12
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Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U. Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Hum Mol Genet 1993 Nov;2(11):1813-21 | |
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38
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Wang M, Kishnani P, Decker-Phillips M, Kahler SG, Chen YT, Godfrey M. Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. J Med Genet 1996 Sep;33(9):760-3 | |
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17
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Wang M, Price C, Han J, Cisler J, Imaizumi K, Van Thienen MN, DePaepe A, Godfrey M. Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. Hum Mol Genet 1995 Apr;4(4):607-13 | |
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35
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Wang M, Wang JY, Cisler J, Imaizumi K, Burton BK, Jones MC, Lamberti JJ, Godfrey M. Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome. Hum Mutat 1997;9(4):359-62 | |
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61
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Weidenbach M, Brenner R, Rantamaki T, Redel DA. Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene. Pediatr Cardiol 1999 Sep-Oct;20(5):382-5 | |
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81
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Youil R, Toner TJ, Bull E, Bailey AL, Earl CD, Dietz HC, Montgomery RA. Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII. Hum Mutat 2000 Jul;16(1):92-3 | |
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49
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Yuan B, Thomas JP, von Kodolitsch Y, Pyeritz RE. Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1. Hum Mutat 1999;14(5):440-6 |