Turner CL, Emery H, Collins AL, Howarth RJ, Yearwood CM, Cross E, Duncan PJ, Bunyan DJ, Harvey JF, Foulds NC: Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. American journal of medical genetics 2009, 149A(2):161–170. 10.1002/ajmg.a.32593
Article
CAS
PubMed
Google Scholar
Hilhorst-Hofstee Y, Hamel BC, Verheij JB, Rijlaarsdam ME, Mancini GM, Cobben JM, Giroth C, Ruivenkamp CA, Hansson KB, Timmermans J, Moll HA, Breuning MH, Pals G: The clinical spectrum of complete FBN1 allele deletions. European journal of human genetics 2011, 19(3):247–252. 10.1038/ejhg.2010.174
Article
PubMed Central
PubMed
Google Scholar
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM: The revised Ghent nosology for the Marfan syndrome. Journal of medical genetics 2010, 47(7):476–85. 10.1136/jmg.2009.072785
Article
CAS
PubMed
Google Scholar
Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N: Heterozygous TGFBR2 mutations in Marfan syndrome. Nature genetics 2004, 36(8):855–60. 10.1038/ng1392
Article
PubMed Central
CAS
PubMed
Google Scholar
Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B: Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human mutation 2006, 27(8):760–9. 10.1002/humu.20353
Article
PubMed
Google Scholar
Chung BH, Lam ST, Tong TM, Li SY, Lun KS, Chan DH, Fok SF, Or JS, Smith DK, Yang W, Lau YL: Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. American journal of medical genetics 2009, 149A(7):1452–1459. 10.1002/ajmg.a.32918
Article
CAS
PubMed
Google Scholar
Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA: Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? Human molecular genetics 2003, 12(18):2269–2276. 10.1093/hmg/ddg241
Article
CAS
PubMed
Google Scholar
Ades LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, Dixon J, Robertson S, Holmes AD, Rogers J, Bennetts B: FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. American journal of medical genetics 2006, 140(10):1047–1058.
Article
CAS
PubMed
Google Scholar
Hiraki Y, Moriuchi M, Okamoto N, Ishikawa N, Sugimoto Y, Eguchi K, Sakai H, Saitsu H, Mizuguchi T, Harada N, Matsumoto N: Craniosynostosis in a patient with a de novo 15q15-q22 deletion. American journal of medical genetics 2008, 146A(11):1462–1465. 10.1002/ajmg.a.32339
Article
PubMed
Google Scholar
Faivre L, Khau Van Kien P, Callier P, Ruiz-Pallares N, Baudoin C, Plancke A, Wolf JE, Thauvin-Robinet C, Durand E, Minot D, Dulieu V, Metaizeau JD, Leheup B, Coron F, Bidot S, Huet F, Jondeau G, Boileau C, Claustres M, Mugneret F: De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome. European journal of medical genetics 2010, 53(4):208–212. 10.1016/j.ejmg.2010.05.002
Article
PubMed
Google Scholar
Furtado LV, Wooderchak-Donahue W, Rope AF, Yetman AT, Lewis T, Plant P, Bayrak-Toydemir P: Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification. BMC medical genetics 2011, 12(1):119. 10.1186/1471-2350-12-119
Article
PubMed Central
CAS
PubMed
Google Scholar
Guilherme RS, de Freitas Ayres Meloni V, Sodre CP, Christofolini DM, Pellegrino R, de Mello CB, Conlin LK, Hutchinson AL, Spinner NB, Brunoni D, Kulikowski LD, Melaragno MI: Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14. American journal of medical genetics 2010, 152A(11):2865–2869. 10.1002/ajmg.a.33689
Article
PubMed
Google Scholar
Matyas G, Alonso S, Patrignani A, Marti M, Arnold E, Magyar I, Henggeler C, Carrel T, Steinmann B, Berger W: Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human genetics 2007, 122(1):23–32. 10.1007/s00439-007-0371-x
Article
CAS
PubMed
Google Scholar
Papadopoulou E, Sismani C, Christodoulou C, Ioannides M, Kalmanti M, Patsalis P: Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion. American journal of medical genetics 2010, 152A(6):1515–1522.
PubMed
Google Scholar
de Vree PJ, Simon ME, van Dooren MF, Stoevelaar GH, Hilkmann JT, Rongen MA, Huijbregts GC, Verkerk AJ, Poddighe PJ: Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report. Molecular cytogenetics 2009, 2: 15. 10.1186/1755-8166-2-15
Article
PubMed Central
PubMed
Google Scholar