| 1 | FBN1, MFS1
|
| Childhood glaucoma in neonatal Marfan syndrome resulting from a novel FBN1 deletion.
|
| Nazarali S, Nazarali SA, Antoniuk A, Greve M, Damji KF.
|
| Can J Ophthalmol 52(5):e171-e173. doi: 10.1016/j.jcjo.2017.03.008. Epub 2017 May 11. No abstract available.
2017
|
| 2 | FBN1, WMSAD
|
| Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.
|
| Newell K, Smith W, Ghoshhajra B, Isselbacher E, Lin A, Lindsay ME.
|
| Am J Med Genet A 173(9):2551-2556. doi: 10.1002/ajmg.a.38353. Epub 2017 Jul 11.
2017
|
| 3 | FBN1
|
| Fibrillin-1 Expression Is Decreased in the Diaphragmatic Muscle Connective Tissue of Nitrofen-Induced Congenital Diaphragmatic Hernia.
|
| Takahashi T, Friedmacher F, Zimmer J, Puri P.
|
| Eur J Pediatr Surg 27(1):26-31. doi: 10.1055/s-0036-1587586. Epub 2016 Aug 14.
2017
|
| 4 | FBN1, LTBP1
|
| The N-Terminal Region of Fibrillin-1 Mediates a Bipartite Interaction with LTBP1.
|
| Robertson IB, Dias HF, Osuch IH, Lowe ED, Jensen SA, Redfield C, Handford PA.
|
| Structure Aug 1;25(8):1208-1221.e5. doi: 10.1016/j.str.2017.06.003. Epub 2017 Jun 29. 2017
|
| 5 | ACMICD, FBN1
|
| Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
|
| de Bruin C, Finlayson C, Funari MF, Vasques GA, Lucheze Freire B, Lerario AM, Andrew M, Hwa V, Dauber A, Jorge AA.
|
| Horm Res Paediatr 86(5):342-348. doi: 10.1159/000446476. Epub 2016 Jun 2.
2016
|
| 6 | FBN1
|
| Fibrillin-1 microfibrils influence adult bone marrow hematopoiesis.
|
| Smaldone S, Bigarella CL, Del Solar M, Ghaffari S, Ramirez F.
|
| Matrix Biol 52-54:88-94. doi: 10.1016/j.matbio.2015.11.006. Epub 2015 Nov 29.
2016
|
| 7 | FBN1
|
| Fibrillin-1 Regulates Skeletal Stem Cell Differentiation by Modulating TGFβ Activity Within the Marrow Niche.
|
| Smaldone S, Clayton NP, del Solar M, Pascual G, Cheng SH, Wentworth BM, Schaffler MB, Ramirez F.
|
| J Bone Miner Res 31(1):86-97. doi: 10.1002/jbmr.2598. Epub 2015 Aug 17.
2016
|
| 8 | FBN1
|
| The fibrillin microfibril scaffold: A niche for growth factors and mechanosensation?
|
| Sengle G, Sakai LY.
|
| Matrix Biol 47:3-12. doi: 10.1016/j.matbio.2015.05.002. Epub 2015 May 7. Review.
2015
|
| 9 | FBN1
|
| Fibrillin-1 impairment enhances blood-brain barrier permeability and xanthoma formation in brains of apolipoprotein E-deficient mice.
|
| Van der Donckt C, Roth L, Vanhoutte G, Blockx I, Bink DI, Ritz K, Pintelon I, Timmermans JP, Bauters D, Martinet W, Daemen MJ, Verhoye M, De Meyer GR.
|
| Neuroscience 295:11-22. doi: 10.1016/j.neuroscience.2015.03.023. Epub 2015 Mar 19.
2015
|
| 10 | AURKA, BRCA2, FBN1, SNAI2
|
| Fibrillin-1, induced by Aurora-A but inhibited by BRCA2, promotes ovarian cancer metastasis.
|
| Wang Z, Liu Y, Lu L, Yang L, Yin S, Wang Y, Qi Z, Meng J, Zang R, Yang G.
|
| Oncotarget 6(9):6670-83.
2015
|
| 11 | FBN1, FBN2
|
| Immunohistochemical expression of fibrillin-1 and fibrillin-2 during tooth development.
|
| Kira-Tatsuoka M, Oka K, Tsuruga E, Ozaki M, Sawa Y.
|
| J Periodontal Res 50(6):714-20. doi: 10.1111/jre.12256. Epub 2014 Dec 18.
2015
|
| 12 | FBN1, MFS1
|
| Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.
|
| 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.
|
| Gene 534(1):40-3. doi: 10.1016/j.gene.2013.10.033. Epub 2013 Oct 24.
2014
|
| 13 | FBN1, MFLS
|
| Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
|
| Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG.
|
| Eur J Med Genet 57(5):230-4. doi: 10.1016/j.ejmg.2014.02.012. Epub 2014 Mar 6.
2014
|
| 14 | FBN1, GLSD2
|
| A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.
|
| Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K.
|
| Gene 512(2):456-9. doi: 10.1016/j.gene.2012.10.060. Epub 2012 Nov 2.
2013
|
| 15 | FBN1, TAA
|
| Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
| Wang WJ, Han P, Zheng J, Hu FY, Zhu Y, Xie JS, Guo J, Zhang Z, Dong J, Zheng GY, Cao H, Liu TS, Fu Q, Sun L, Yang BB, Tian XL.
|
| J Mol Med (Berl) 91(1):37-47. doi: 10.1007/s00109-012-0931-y. Epub 2012 Jul 8.
2013
|
| 16 | FBN1, MFLS
|
| Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
|
| Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K.
|
| Am J Med Genet A 161A(12):3057-62. doi: 10.1002/ajmg.a.36157. Epub 2013 Aug 16.
2013
|
| 17 | FBN1, MFS1
|
| Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
|
| Hogue J, Lee C, Jelin A, Strecker M, Cox V, Slavotinek A.
|
| Clin Genet lin Genet. 2012 Dec 28. doi: 10.1111/cge.12073. [Epub ahead of print] No abstract available.
2012
|
| 18 | FBN1, MFS1
|
| Recent developments in the diagnosis of Marfan syndrome and related disorders.
|
| Summers KM, West JA, Hattam A, Stark D, McGill JJ, West MJ.
|
| Med J Aust 197(9):494-7.
2012
|
| 19 | ECTl, FBN1
|
| Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).
|
| Zhao JH, Jin TB, Liu QB, Chen C, Hu HT.
|
| Ophthalmic Genet phthalmic Genet. 2012 Sep 6. [Epub ahead of print]
2012
|
| 20 | FBN1, FBN2, FBN3
|
| Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases.
|
| Davis MR, Summers KM.
|
| Mol Genet Metab 107(4):635-47. doi: 10.1016/j.ymgme.2012.07.023. Epub 2012 Aug 3.
2012
|
| 21 | FBN1, FBN2
|
| Fibrillin-1 and fibrillin-2 are essential for formation of thick oxytalan fibers in human nonpigmented ciliary epithelial cells in vitro.
|
| Yamanouchi K, Tsuruga E, Oka K, Sawa Y, Ishikawa H.
|
| Connect Tissue Res 53(1):14-20. doi: 10.3109/03008207.2011.602767. Epub 2011 Aug 18.
2012
|
| 22 | ACMICD, FBN1, GLSD2
|
| Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
|
| Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V
|
| Am J Hum Genet 89 (7-14) 2011
|
| 23 | ADAMTS10, FBN1, WMSAD, WMSAR
|
| ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.
|
| Kutz WE, Wang LW, Bader HL, Majors AK, Iwata K, Traboulsi EI, Sakai LY, Keene DR, Apte SS.
|
| J Biol Chem 286(19):17156-67. Epub 2011 Mar 14.
2011
|
| 24 | FBN1
|
| FBN1 isoform expression varies in a tissue and development-specific fashion.
|
| Burchett ME, Ling IF, Estus S.
|
| Biochem Biophys Res Commun 411(2):323-8. Epub 2011 Jun 25.
2011
|
| 25 | FBN1
|
| Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
|
| Lemaire SA, McDonald ML, Guo DC, Russell L, Miller CC 3rd, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, Body SC, Seidman C, Seidman JG, Isselbacher EM, Bray M, Coselli JS, Estrera AL, Safi HJ, Belmont JW, Leal SM, Milewicz DM.
|
| Nat Genet 43(10):996-1000. doi: 10.1038/ng.934.
2011
|
| 26 | FBN1, THSB4
|
| ADAMTSL6β protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly.
|
| Saito M, Kurokawa M, Oda M, Oshima M, Tsutsui K, Kosaka K, Nakao K, Ogawa M, Manabe R, Suda N, Ganjargal G, Hada Y, Noguchi T, Teranaka T, Sekiguchi K, Yoneda T, Tsuji T.
|
| J Biol Chem 286(44):38602-13. doi: 10.1074/jbc.M111.243451. Epub 2011 Aug 31.
2011
|
| 27 | FBN1, MFS1
|
| 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
|
| 28 | FBN1, MFLS
|
| Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.
|
| Goldblatt J, Hyatt J, Edwards C, Walpole I.
|
| Am J Med Genet A 155A(4):717-20. doi: 10.1002/ajmg.a.33906. Epub 2011 Mar 15.
2011
|
| 29 | FBN1, FBN2
|
| Material and mechanical properties of bones deficient for fibrillin-1 or fibrillin-2 microfibrils.
|
| Arteaga-Solis E, Sui-Arteaga L, Kim M, Schaffler MB, Jepsen KJ, Pleshko N, Ramirez F.
|
| Matrix Biol 30(3):188-94. doi: 10.1016/j.matbio.2011.03.004. Epub 2011 Mar 29.
2011
|
| 30 | FBN1, SSKS
|
| Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
|
| Loeys, B. L.; Gerber, E. E.; Riegert-Johnson, D.; Iqbal, S.; Whiteman, P.; McConnell, V.; Chillakuri, C. R.; Macaya, D.; Coucke, P. J.; De Paepe, A.; Judge, D. P.; Wigley, F.; Davis, E. C.; Mardon, H. J.; Handford, P.; Keene, D. R.; Sakai, L. Y.; Dietz, H. C.
|
| Sci. Transl. Med. 23: 23ra20. 2010
|
| 31 | FBN1, MFS1
|
| 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
|
| 32 | FBN1, MFS1
|
| 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
|
| 33 | FBN1, FBN2
|
| Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation.
|
| Nistala H, Lee-Arteaga S, Smaldone S, Siciliano G, Carta L, Ono RN, Sengle G, Arteaga-Solis E, Levasseur R, Ducy P, Sakai LY, Karsenty G, Ramirez F.
|
| J Cell Biol 190(6):1107-21. doi: 10.1083/jcb.201003089.
2010
|
| 34 | FBN1, FBN2
|
| Microfibril structure masks fibrillin-2 in postnatal tissues.
|
| Charbonneau NL, Jordan CD, Keene DR, Lee-Arteaga S, Dietz HC, Rifkin DB, Ramirez F, Sakai LY.
|
| J Biol Chem 285(26):20242-51. doi: 10.1074/jbc.M109.087031. Epub 2010 Apr 19.
2010
|
| 35 | FBN1, MFS1
|
| 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
|
| 36 | FBN1, MFLS
|
| 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
|
| 37 | FBN1, LDS1A, LDS2B, MFS1, TGFBR1, TGFBR2
|
| 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
|
| 38 | FBN1, MFS1
|
| 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
|
| 39 | FBN1, MFS1
|
| 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
|
| 40 | FBN1, LDS1A, LDS2B, MFS1, MFS2, TGFBR1, TGFBR2
|
| 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
|
| 41 | ADAMTS10, ADAMTS17, ADAMTSL4, FBN1, WMSAR, WMSL
|
| Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
|
| Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N.
|
| Am J Hum Genet 85(5):558-68.PMID: 19836009 2009
|
| 42 | FBN1, MFS1
|
| 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
|
| 43 | FBN1
|
| Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1.
|
| Summers KM, Bokil NJ, Baisden JM, West MJ, Sweet MJ, Raggatt LJ, Hume DA.
|
| Genomics 94(4):233-40. Epub 2009 Jun 30.PMID: 19573590 2009
|
| 44 | DEL15QM, FBN1
|
| Craniosynostosis in a patient with a de novo 15q15-q22 deletion.
|
| Hiraki Y, Moriuchi M, Okamoto N, Ishikawa N, Sugimoto Y, Eguchi K, Sakai H, Saitsu H, Mizuguchi T, Harada N, Matsumoto N.
|
| Am J Med Genet A 146A(11):1462-1465. [Epub ahead of print] 2008
|
| 45 | FBN1, MFS1
|
| 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
|
| 46 | FBN1, MFS1
|
| 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
|
| 47 | FBN1, MFS1
|
| 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
|
| 48 | FBN1, MFS1
|
| 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
|
| 49 | FBN1, MFS1
|
| 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
|
| 50 | FBN1, FBN2
|
| Arg-Gly-Asp-containing domains of fibrillins-1 and -2 distinctly regulate lung fibroblast migration.
|
| McGowan SE, Holmes AJ, Mecham RP, Ritty TM.
|
| Am J Respir Cell Mol Biol 38(4):435-45. Epub 2007 Nov 15.
2008
|
| 51 | 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
|
| 52 | FBN1,MFS1
|
| 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
|
| 53 | FBN1,MFS1
|
| 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
|
| 54 | MFS1, FBN1
|
| 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
|
| 55 | FBN1, MFS1
|
| 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
|
| 56 | FBN1, MFS1
|
| 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
|
| 57 | FBN1, MFS1
|
| 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
|
| 58 | 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
|
| 59 | FBN1, ECTL
|
| Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.
|
| Yu R, Lai Z, Zhou W, Ti DD, Zhang XN.
|
| Am J Ophthalmol 141(6):1136-8. 2006
|
| 60 | 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
|
| 61 | 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
|
| 62 | 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
|
| 63 | HCMU, ECM1, FBN1
|
| Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2.
|
| Fujimoto N, Terlizzi J, Brittingham R, Fertala A, McGrath JA, Uitto J.
|
| Biochem Biophys Res Commun 333(4):1327-33. 2005
|
| 64 | FBN1, WMSAD
|
| In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
|
| 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.
|
| J Med Genet 40(1):34-6. 2003
|
| 65 | FBN1, KPSI
|
| Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.
|
| Ades LC, Sreetharan D, Onikul E, Stockton V, Watson KC, Holman KJ.
|
| Am J Med Genet 109(4):261-70. 2002
|
| 66 | FBN1, MFS1
|
| 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
|
| 67 | FBN1
|
| 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 20(3):153-61. Review. 2002
|
| 68 | FBN1, ECTL
|
| 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 86(12):1359-62. 2002
|
| 69 | 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
|
| 70 | 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
|
| 71 | FBN1
|
| Expression and cellular localization of fibrillin-1 in normal and pathological human liver.
|
| Dubuisson L, Lepreux S, Bioulac-Sage P, Balabaud C, Costa AM, Rosenbaum J, Desmouliere A.
|
| J Hepatol 34(4):514-22. 2001
|
| 72 | 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
|
| 73 | 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
|
| 74 | FBN1
|
| Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context.
|
| McGettrick AJ, Knott V, Willis A, Handford PA.
|
| Hum Mol Genet 9(13):1987-94. 2000
|
| 75 | 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
|
| 76 | FBN1
|
| Revised genomic organization of FBN1 and significance for regulated gene expression.
|
| Biery NJ, et al.
|
| Genomics 56(1):70-7. 1999
|
| 77 | 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
|
| 78 | FBN1
|
| Molecular analysis of eight mutations in FBN1.
|
| Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA.
|
| Hum Genet 105(6):587-97 1999
|
| 79 | FBN1
|
| Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.
|
| Lšnnqvist L, et al.
|
| Hum Mol Genet 7 : 2039-2044. 1998
|
| 80 | FBN1
|
| Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population.
|
| Tan FK, et al.
|
| Arthritis Rheum 41 : 1729-1737. 1998
|
| 81 | 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
|
| 82 | FBN1, MFS1
|
| P1148A in fibrillin-1 is not a mutation anymore.
|
| Wang M, et al.
|
| Nat Genet 15 : 12. 1997
|
| 83 | 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
|
| 84 | 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
|
| 85 | 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
|
| 86 | 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
|
| 87 | 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
|
| 88 | FBN1, SGS
|
| P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.
|
| Watanabe Y, Yano S, Koga Y, Yukizane S, Nishiyori A, Yoshino M, Kato H, Ogata T, Adachi M.
|
| Hum Mutat 10(4):326-7. 1997
|
| 89 | ECTL, FBN1, SGS, TAA
|
| Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
|
| Hayward C, Brock DJ.
|
| Hum Mutat 10(6):415-23. Review. 1997
|
| 90 | SGS, FBN1
|
| Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.
|
| Sood S, et al.
|
| Nat Genet 12 : 209-211. 1996
|
| 91 | 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
|
| 92 | FBN1, MFS1
|
| Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
|
| Ads LC, et al.
|
| J Med Genet 33 : 665-671. 1996
|
| 93 | 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
|
| 94 | 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
|
| 95 | FBN1, TAA
|
| Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.
|
| Milewicz DM, et al.
|
| Circulation 94 : 2708-2711. 1996
|
| 96 | FBLN2, FBN1
|
| Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues.
|
| Reinhardt DP, Sasaki T, Dzamba BJ, Keene DR, Chu ML, Gohring W, Timpl R, Sakai LY.
|
| J Biol Chem 271(32):19489-96 1996
|
| 97 | WMSAD, FBN1
|
| Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1.
|
| Wirtz MK, Samples JR, Kramer PL, Rust K, Yount J, Acott TS, Koler RD,Cisler J, Jahed A, Gorlin RJ, Godfrey M.
|
| Am J Med Genet 65(1):68-75. 1996
|
| 98 | 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
|
| 99 | 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
|
| 100 | 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
|
| 101 | 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
|
| 102 | 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
|
| 103 | 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
|
| 104 | MFS1, FBN1
|
| Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.
|
| Aoyama T, et al.
|
| Am J Med Genet 58 : 169-176 1995
|
| 105 | 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
|
| 106 | ECTL, FBN1
|
| A novel mutation of the fibrillin gene causing ectopia lentis.
|
| Lšnnqvist L, et al.
|
| Genomics 19 : 573-576. 1994
|
| 107 | 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
|
| 108 | 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
|
| 109 | 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
|
| 110 | 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
|
| 111 | 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
|
| 112 | 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
|
| 113 | FBN1
|
| An Rsal polymorphism for the fibrillin gene (FBN1).
|
| Black CM, et al.
|
| Hum Mol Genet 3 : 1442. 1994
|
| 114 | 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
|
| 115 | ECTL, FBN1
|
| Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.
|
| Edwards MJ, et al.
|
| Am J Med Genet 53 : 65-71. 1994
|
| 116 | 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
|
| 117 | FBN1
|
| A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
|
| Hayward C, et al.
|
| Mol Cell Probes 8 : 325-327. 1994
|
| 118 | 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
|
| 119 | FBN1, FBN2
|
| Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18.
|
| Li X, et al.
|
| Genomics 18 : 667-672. 1993
|
| 120 | 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
|
| 121 | FBN1
|
| Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.
|
| Pereira L, et al.
|
| Hum Mol Genet 2 : 961-968. 1993
|
| 122 | FBN1, FBN2
|
| Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2).
|
| Biddinger AL, et al.
|
| Hum Mol Genet 2 : 1323. 1993
|
| 123 | 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
|
| 124 | FBN1
|
| Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end.
|
| Corson GM, et al.
|
| Genomics 17 : 476-484. 1993
|
| 125 | 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
|
| 126 | 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
|
| 127 | MFS1, FBN1
|
| The skipping of constitutive exons in vivo induced by nonsense mutations.
|
| Dietz HC, et al.
|
| Science 259 : 680-683. 1993
|
| 128 | FBN1, FBN2
|
| Genetic map of fibrillin-15, Marfan syndrome, ectopia lentis, limb-girdle muscular dystrophy on 15q; map of markers flanking fibrillin-5 and congenital contractural arachnodactyly on 5q.
|
| Tsipouras P, et al.
|
| Am J Hum Genet 51 : A203. 1992
|
| 129 | MFS1, CCA, FBN1, FBN2
|
| Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
|
| Lee B, et al.
|
| Nature 352 : 330-334. 1991
|
| 130 | FBN1
|
| Partial sequence of a candidate gene for the Marfan syndrome.
|
| Maslen CL, et al.
|
| Nature 352 : 334-337. 1991
|
| 131 | FBN1
|
| A BamHI polymorphism at the fibrillin (FBN) locus.
|
| Clark BA, et al.
|
| Nucleic Acids Res 19 : 4309. 1991
|
| 132 | FBN1
|
| Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1.
|
| Magenis RE, et al.
|
| Genomics 11 : 346-351. 1991
|
| 133 | FBN1
|
| G/A polymorphism in an intron of the fibrillin gene FBNI.
|
| Hewett DR, et al.
|
| Nucleic Acids Res 19 : 6975. 1991
|