G Collod-Beroud, S Le Bourdelles, L Ades, L … - Human mutation, 2003 - interscience.wiley.com Fibrillin is the major component of extracellular microfibrils. Mutations in the
fibrillin gene on chromosome 15 (FBN1) were first described in the heritable
connective disorder, Marfan syndrome (MFS). FBN1 has also been shown to ... Cited by 101 - Related articles - BL Direct - All 4 versions
T Mizuguchi, N Matsumoto - Journal of human genetics, 2007 - Springer Abstract Marfan syndrome (MFS, OMIM #154700) is a hereditary connective tissue
disorder, clinically pre- senting with cardinal features of skeletal, ocular,
and cardiovascular systems. In classical MFS, changes in connective tissue ... Cited by 47 - Related articles - BL Direct - All 6 versions
NL Charbonneau, RN Ono, GM Corson, DR … - BIRTH DEFECTS RESEARCH PART A CLINICAL …, 2004 - interscience.wiley.com Growth factors, potent regulators of cell differentiation, tissue morphogenesis,
tissue homeostasis, and cellular response to injury, reside in the extracellular
matrix. Genetic evidence in humans and mice as well as biochemical data ... Cited by 43 - Related articles - BL Direct - All 3 versions
K Rommel, M Karck, A Haverich, Y von … - Molekulargenetik des Marfan-Syndroms, 2005 - deposit.ddb.de HUMAN MUTATION 26 (6), 529^ 539, 2005 RESEARCH ARTICLE Identification of 29
Novel and Nine Recurrent Fibrillin-1 (FBN1) Mutations and Genotype– Phenotype
Correlations in 76 Patients With Marfan Syndrome Kathrin Rommel, 1 Matthias ... Cited by 30 - Related articles - BL Direct - All 4 versions
LC Adès, KJ Holman, MS Brett, MJ Edwards, … - AMERICAN JOURNAL OF MEDICAL GENETICS PART …, 2004 - interscience.wiley.com Mutations of the fibrillin-1 (FBN1) gene on chromosome 15 have been described in
patients with classical Marfan syndrome (MFS), neonatal MFS, the MASS phenotype,
autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia ... Cited by 26 - Related articles - BL Direct - All 3 versions
P Comeglio, P Johnson, G Arno, G Brice, A … - Human Mutation, 2007 - interscience.wiley.com Mutations in the FBN1 gene have been characterised in patients affected by
Marfan syndrome and Marfan-related disorders. Starting with genomic DNA, we
analysed the FBN1 gene using PCR, SSCP and/or dHPLC analysis, and automatic ... Cited by 14 - Related articles - BL Direct - All 2 versions
C Jin, K Yao, J Jiang, X Tang, X Shentu, R Wu - Mol Vis, 2007 - molvis.org Methods: Patients from seven Chinese families underwent complete physical,
ophthalmic, and cardiovascular examination. Genomic DNA was extracted from
leukocytes of peripheral blood from the patients. The 65 exons and flanking ... Cited by 8 - Related articles - Cached - All 3 versions
C Baumgartner, G Mátyás, B Steinmann, M … - Journal of Biomedical Informatics, 2006 - Elsevier Mutations in the human FBN1 gene are known to be associated with the Marfan
syndrome, an autosomal dominant inherited multi-systemic connective tissue
disorder. However, in the absence of solid genotype–phenotype ... Cited by 7 - Related articles - All 4 versions
G Pepe, I Lapini, L Evangelisti, M Attanasio, B … - Mol Vis, 2007 - molvis.org Familial ectopia lentis (EL; OMIM 129600) is an inher- ited connective tissue
disorder with a prevalence of 1/100,000 mostly transmitted as a dominant trait.
Autosomal recessive cases have also rarely been reported [1,2]. In the ... Cited by 4 - Related articles - View as HTML - All 3 versions
- ►oxfordjournals.org P Whiteman, AC Willis, A Warner, J Brown, C … - Human Molecular Genetics, 2007 - Oxford Univ Press Human fibrillin-1 is an extra-cellular matrix glycoprotein with a modular
organisation that includes 43 calcium-binding epidermal growth factor-like
(cbEGF) domains arranged as multiple tandem repeats interspersed with ... Cited by 3 - Related articles - BL Direct - All 7 versions
