| 1 | FBN1, MFS1
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| Childhood glaucoma in neonatal Marfan syndrome resulting from a novel FBN1 deletion.
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| Nazarali S, Nazarali SA, Antoniuk A, Greve M, Damji KF.
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| Can J Ophthalmol 52(5):e171-e173. doi: 10.1016/j.jcjo.2017.03.008. Epub 2017 May 11. No abstract available.
2017
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| 2 | FBN1, MFS1
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| Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.
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| Aalberts JJ, van Tintelen JP, Meijboom LJ, Polko A, Jongbloed JD, van der Wal H, Pals G, Osinga J, Timmermans J, de Backer J, Bakker MK, van Veldhuisen DJ, Hofstra RM, Mulder BJ, van den Berg MP.
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| Gene 534(1):40-3. doi: 10.1016/j.gene.2013.10.033. Epub 2013 Oct 24.
2014
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| 3 | FBN1, MFS1
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| Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
|
| Hogue J, Lee C, Jelin A, Strecker M, Cox V, Slavotinek A.
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| Clin Genet lin Genet. 2012 Dec 28. doi: 10.1111/cge.12073. [Epub ahead of print] No abstract available.
2012
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| 4 | FBN1, MFS1
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| Recent developments in the diagnosis of Marfan syndrome and related disorders.
|
| Summers KM, West JA, Hattam A, Stark D, McGill JJ, West MJ.
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| Med J Aust 197(9):494-7.
2012
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| 5 | FBN1, MFS1
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| Intrinsic biventricular dysfunction in Marfan syndrome.
|
| de Witte P, Aalberts JJ, Radonic T, Timmermans J, Scholte AJ, Zwinderman AH, Mulder BJ, Groenink M, van den Berg MP.
|
| Heart 97(24):2063-8. doi: 10.1136/heartjnl-2011-300169. Epub 2011 Oct 11.
2011
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| 6 | FBN1, MFS1
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| Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.
|
| Barnett CP, Wilson GJ, Chiasson DA, Gross GJ, Hinek A, Hawkins C, Chitayat D.
|
| Am J Med Genet A 152A(9):2409-12. No abstract available. 2010
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| 7 | FBN1, MFS1
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| The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
|
| Hilhorst-Hofstee Y, Rijlaarsdam ME, Scholte AJ, Swart-van den Berg M, Versteegh MI, van der Schoot-van Velzen I, Schäbitz HJ, Bijlsma EK, Baars MJ, Kerstjens-Frederikse WS, Giltay JC, Hamel BC, Breuning MH, Pals G.
|
| Hum Mutat 31(12):E1915-27. doi: 10.1002/humu.21372.
2010
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| 8 | FBN1, MFS1
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| Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
|
| Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E.
|
| Am J Med Genet A 152A(11):2749-55. doi: 10.1002/ajmg.a.33690.
2010
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| 9 | FBN1, LDS1A, LDS2B, MFS1, TGFBR1, TGFBR2
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| Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
|
| Söylen B, Singh KK, Abuzainin A, Rommel K, Becker H, Arslan-Kirchner M, Schmidtke J.
|
| Clin Genet 75(3):265-70. Epub 2009 Jan 20. 2009
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| 10 | FBN1, MFS1
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| Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
|
| Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.
|
| Eur J Hum Genet 17(4):491-501. Epub 2008 Nov 12.
2009
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| 11 | FBN1, MFS1
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| 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 149A(5):854-60.
2009
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| 12 | FBN1, LDS1A, LDS2B, MFS1, MFS2, TGFBR1, TGFBR2
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| Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
|
| Chung BH, Lam ST, Tong TM, Li SY, Lun KS, Chan DH, Fok SF, Or JS, Smith DK, Yang W, Lau YL.
|
| Am J Med Genet A 149A(7):1452-9. 2009
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| 13 | FBN1, MFS1
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| Neuromuscular features in Marfan syndrome.
|
| Voermans N, Timmermans J, van Alfen N, Pillen S, op den Akker J, Lammens M, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG.
|
| Clin Genet 76(1):25-37.PMID: 19659760 2009
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| 14 | FBN1, MFS1
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| Severe Marfan syndrome due to FBN1 exon deletions.
|
| Blyth M, Foulds N, Turner C, Bunyan D.
|
| Am J Med Genet A 146A(10):1320-4. 2008
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| 15 | FBN1, MFS1
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| Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.
|
| Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Ads L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.
|
| J Med Genet 45(6):384-90. Epub 2008 Feb 29. 2008
|
| 16 | FBN1, MFS1
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| 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 74(1):39-46. Epub 2008 Apr 22.
2008
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| 17 | FBN1, MFS1
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| The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.
|
| Rybczynski M, Bernhardt AM, Rehder U, Fuisting B, Meiss L, Voss U, Habermann C, Detter C, Robinson PN, Arslan-Kirchner M, Schmidtke J, Mir TS, Berger J, Meinertz T, von Kodolitsch Y.
|
| Am J Med Genet A 146A(24):3157-66.
2008
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| 18 | FBN1, MFS1
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| An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.
|
| Guo DC, Gupta P, Tran-Fadulu V, Guidry TV, Leduc MS, Schaefer FV, Milewicz DM.
|
| J Hum Genet 53(11-12):1007-11. Epub 2008 Sep 17.
2008
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| 19 | FBN1, TGFBR1, TGFBR2, ECTL, MFS1, TAA, WMSAD, CCSND1, CCSND2, FRLS
|
| Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
|
| Mizuguchi T, Matsumoto N.
|
| J Hum Genet 52(1):1-12. Epub 2006 Oct 24. Review. 2007
|
| 20 | FBN1,MFS1
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| Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.
|
| Matyas G, Alonso S, Patrignani A, Marti M, Arnold E, Magyar I, Henggeler C, Carrel T, Steinmann B, Berger W.
|
| Hum Genet 122(1):23-32. Epub 2007 May 10. 2007
|
| 21 | FBN1,MFS1
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| Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study.
|
| Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.
|
| Am J Hum Genet 81(3):454-66. Epub 2007 Jul 25. 2007
|
| 22 | MFS1, FBN1
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| Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.
|
| De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A.
|
| Clin Genet 72(3):188-98. 2007
|
| 23 | FBN1, MFS1
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| Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
|
| Rand-Hendriksen S, Tjeldhorn L, Lundby R, Semb SO, Offstad J, Andersen K, Geiran O, Paus B.
|
| Am J Med Genet A 143(17):1968-77. 2007
|
| 24 | FBN1, MFS1
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| 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 15(9):930-5. Epub 2007 Jun 13. 2007
|
| 25 | FBN1, MFS1
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| Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome.
|
| Singh KK, Elligsen D, Liersch R, Schubert S, Pabst B, Arslan-Kirchner M, Schmidtke J.
|
| J Mol Cell Cardiol 42(2):352-6. Epub 2006 Dec 26.
2007
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| 26 | FBN1, FRLS, LDS1A, MFS1, SGS, TGFBR1
|
| FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
|
| Ades LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, Dixon J, Robertson S, Holmes AD, Rogers J, Bennetts B.
|
| Am J Med Genet A 140(10):1047-58. 2006
|
| 27 | FBN1, MFS1, FBN2, CCA, TGFBR2, MFS2
|
| Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
|
| Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N.
|
| Am J Med Genet A 140(16):1719-25. 2006
|
| 28 | FBN1, MFS1
|
| Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.
|
| Mellody KT, Freeman LJ, Baldock C, Jowitt TA, Siegler V, Raynal BD, Cain SA, Wess TJ, Shuttleworth CA, Kielty CM.
|
| J Biol Chem 281(42):31854-62. Epub 2006 Aug 10. 2006
|
| 29 | FBN1, MFS1
|
| RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome.
|
| Booms P, Pregla R, Ney A, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, Robinson PN.
|
| Hum Genet 116(1-2):51-61. Epub 2004 Oct 23. 2005
|
| 30 | FTAA2, MFS1, MFS2, FTAA1, CHAR, TFAP2B, TAA
|
| Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.
|
| Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X.
|
| Eur J Hum Genet 12(3):173-80. 2004
|
| 31 | MFS1
|
| Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
|
| Whiteman P, Handford PA.
|
| Hum Mol Genet 12(7):727-37. 2003
|
| 32 | FBN1, MFS1
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| Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.
|
| Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U.
|
| Am J Hum Genet 71(2):223-37. 2002
|
| 33 | FBN1, MFS1
|
| 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, Hovels-Gurich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T.
|
| Eur J Hum Genet 9(1):13-21. 2001
|
| 34 | FBN1, MFS1
|
| Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.
|
| Hutchinson S, Wordsworth BP, Handford PA.
|
| Hum Genet 109(4):416-20. 2001
|
| 35 | FBN1, MFS1
|
| Clustering of mutations associated with mild marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
|
| 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.
|
| Am J Med Genet 91(3):212-21. 2000
|
| 36 | FBN1, MFS1
|
| 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 45(2):115-8. 2000
|
| 37 | CCA, FBN1, FBN2, AKAP13, LTBP1, LTBP2, LTBP3, LTBP4, MFAP5, MFAP1, MFAP2, MFAP3, MFAP4, MFS1
|
| The molecular genetics of Marfan syndrome and related microfibrillopathies.
|
| Robinson PN, Godfrey M.
|
| J Med Genet 37(1):9-25. Review. 2000
|
| 38 | FBN1, MFS1
|
| Cysteine Substitutions in Epidermal Growth Factor-Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes.
|
| Schrijver I, et al.
|
| Am J Hum Genet 65(4):1007-1020 1999
|
| 39 | FBN1, MFS1
|
| Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
|
| Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC.
|
| Am J Hum Genet 63 : 1703-1711. 1998
|
| 40 | FBN1, MFS1
|
| P1148A in fibrillin-1 is not a mutation anymore.
|
| Wang M, et al.
|
| Nat Genet 15 : 12. 1997
|
| 41 | FBN1, MFS1
|
| Three novel fibrillin mutations in exons 25 and 27 : classic versus neonatal Marfan syndrome.
|
| Wang M, et al.
|
| Hum Mutat 9 : 359-362. 1997
|
| 42 | FBN1, MFS1
|
| The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
|
| Schrijver I, Liu W, Francke U.
|
| Hum Genet 99(5):607-11. 1997
|
| 43 | FBN1, MFS1
|
| 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.
|
| Booms P, Withers AP, Boxer M, Kaufmann UC, Hagemeier C, Vetter U, Robinson PN.
|
| Hum Genet 100(2):195-200. 1997
|
| 44 | FBN1, MFS1
|
| Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.
|
| Liu W, Qian C, Francke U.
|
| Nat Genet 16(4):328-9. 1997
|
| 45 | FBN1, MFS1
|
| Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
|
| Hayward C, Porteous ME, Brock DJ.
|
| Hum Mutat 10(4):280-9. 1997
|
| 46 | MFS1, FBN1
|
| Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
|
| Putnam EA, et al.
|
| Am J Med Genet 62 : 233-242. 1996
|
| 47 | FBN1, MFS1
|
| Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
|
| Ads LC, et al.
|
| J Med Genet 33 : 665-671. 1996
|
| 48 | FBN1, MFS1
|
| Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome.
|
| Liu W, et al.
|
| Hum Mol Genet 5 : 1581-1587. 1996
|
| 49 | FBN1, MFS1
|
| A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.
|
| Lšnnqvist L, et al.
|
| Genomics 36 : 468-475. 1996
|
| 50 | FBN1, ECTL, MFS1
|
| Marfan syndrome : fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects.
|
| Kielty CM, et al.
|
| J Med Genet 32 : 1-6. 1995
|
| 51 | MFS1, MFS2
|
| The question of heterogeneity in Marfan syndrome.
|
| Boileau C, et al.
|
| Nat Genet 9 : 228-229. 1995
|
| 52 | MFS1, MFS2
|
| The question of heterogeneity in Marfan syndrome in reply.
|
| Dietz H, et al.
|
| Nat Genet 9 : 229-230. 1995
|
| 53 | FBN1, MFS1
|
| Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.
|
| Wang M, et al.
|
| Hum Mol Genet 4 : 607-613. 1995
|
| 54 | FBN1, MFS1
|
| A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
|
| Milewicz DM, et al.
|
| J Clin Invest 95 : 2373-2378. 1995
|
| 55 | FBN1, MFS1
|
| Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.
|
| Eldadah ZA, et al.
|
| J Clin Invest 95 : 874-880. 1995
|
| 56 | MFS1, FBN1
|
| A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
|
| Francke U, et al.
|
| Am J Hum Genet 56 : 1287-1296. 1995
|
| 57 | FBN1, MFS1
|
| Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
|
| Nijbroek G, et al.
|
| Am J Hum Genet 57 : 8-21. 1995
|
| 58 | MFS1, FBN1
|
| Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.
|
| Aoyama T, et al.
|
| Am J Med Genet 58 : 169-176 1995
|
| 59 | FBN1, ECTL, MFS1
|
| Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
|
| Kainulainen K, et al.
|
| Nat Genet 6 : 64-69. 1994
|
| 60 | FBN1, MFS1
|
| 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.
|
| Hayward C, et al.
|
| Hum Mol Genet 3 : 373-375. 1994
|
| 61 | FBN1, MFS1
|
| Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.
|
| Hayward C, et al.
|
| Hum Mutat 3 : 159-162. 1994
|
| 62 | MFS1
|
| Severe neonatal Marfan syndrome resulting from a De novo 3-bp insertion into the fibrillin gene on chromosome 15.
|
| Milewicz DM, et al.
|
| Am J Hum Genet 54 : 447-453. 1994
|
| 63 | FBN1, MFS1
|
| A new missense mutation of fibrillin in a patient with Marfan syndrome.
|
| Hewett DR, et al.
|
| J Med Genet 31 : 338-339. 1994
|
| 64 | MFS1, FBN1
|
| Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.
|
| Piersall LD, et al.
|
| Hum Mol Genet 3 : 1013-1014. 1994
|
| 65 | FBN1, MFS1
|
| Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.
|
| Aoyama T, et al.
|
| J Clin Invest 94 : 130-137. 1994
|
| 66 | FBN1, MFS1
|
| A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.
|
| Pereira L, et al.
|
| N Engl J Med 331 : 148-153. 1994
|
| 67 | MFS1, FBN1
|
| Differential allelic expression of a fibrillin gene (FBNI) in patients with Marfan syndrome.
|
| Hewett D, et al.
|
| Am J Hum Genet 52 : 447-452. 1994
|
| 68 | FBN1, MFS1
|
| A compound-heterozygous Marfan patient : two defective fibrillin alleles result in a lethal phenotype.
|
| Karttunen L, et al.
|
| Am J Hum Genet 55 : 1083-1091. 1994
|
| 69 | MFS1, FBN1
|
| Mutation screening of complete fibrillin-1 coding sequence : report of five new mutations, including two in 8-cysteine domains.
|
| Tynan K, et al.
|
| Hum Mol Genet 2 : 1813-1821. 1993
|
| 70 | FBN1, MFS1
|
| A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
|
| Hewett DR, et al.
|
| Hum Mol Genet 2 : 475-477. 1993
|
| 71 | MFS1
|
| Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.
|
| Boileau C, et al.
|
| Am J Hum Genet 53 : 46-54. 1993
|
| 72 | MFS1, FBN1
|
| Four novel FBN1 mutations : significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
|
| Dietz HC, et al.
|
| Genomics 17 : 468-475. 1993
|
| 73 | FBN1, MFS1
|
| Four novel FBN1 mutations implicate mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
|
| Eldadah ZA, et al.
|
| Am J Hum Genet 53 : 1154. 1993
|
| 74 | FBN1, MFS1
|
| Aortic aneurysm in a family with a glycine-to-serine substitution in the FBN-1 gene.
|
| Berg MA, et al.
|
| Am J Hum Genet 53 : 151. 1993
|
| 75 | MFS1, FBN1
|
| The skipping of constitutive exons in vivo induced by nonsense mutations.
|
| Dietz HC, et al.
|
| Science 259 : 680-683. 1993
|
| 76 | MFS1
|
| A linkage map of loci flanking the Marfan syndrome locus on 15q : results of an International Consortium Study.
|
| Sarfarazi M, et al.
|
| J Med Genet 29 : 75-80. 1992
|
| 77 | MFS1, CCA
|
| Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5.
|
| Tsipouras P, et al.
|
| N Engl J Med 326 : 905-909. 1992
|
| 78 | MFS1
|
| Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
|
| Dietz HC, et al.
|
| J Clin Invest 89 : 1674-1680. 1992
|
| 79 | MFS1
|
| Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
|
| Kainulainen K, et al.
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