- ►bmj.com P Comeglio, AL Evans, G Brice, RJ Cooling, … - British Medical Journal, 2002 - bjo.bmj.com Background: Marfan syndrome (MFS), inherited as an autosomal dominant trait,
typically affects the cardiovascular, skeletal, and ocular systems. Ectopia
lentis (EL) is a clinical manifestation of MFS, with stretching or ... Cited by 31 - Related articles - BL Direct - All 7 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
- ►bmj.com [PDF] J Korkko, I Kaitila, L Lonnqvist, L Peltonen, L … - British Medical Journal, 2002 - jmg.bmj.com Page 1. doi:10.1136/jmg.39.1.34 2002;39;34-41 J. Med. Genet. J Körkkö, I
Kaitila, L Lönnqvist, L Peltonen and L Ala-Kokko syndrome ... Cited by 53 - Related articles - BL Direct - All 9 versions
S Katzke, P Booms, F Tiecke, M Palz, A … - Human mutation, 2002 - interscience.wiley.com Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome (MFS), an
autosomal dominant heritable disorder of connective tissue with prominent
manifestations in the skeletal, ocular, and cardiovascular system. FBN1 ... Cited by 47 - Related articles - BL Direct - All 3 versions
C Black, AP Withers, JR Gray, AB Bridges, A … - Human mutation, 1998 - ncbi.nlm.nih.gov 1: Hum Mutat. 1998;Suppl 1:S198-200. Correlation of a recurrent FBN1 mutation
(R122C) with an atypical familial Marfan syndrome phenotype. ... Cited by 22 - Related articles - BL Direct
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
B Loeys, L Nuytinck, I Delvaux, S De Bie, A … - Archives of Internal Medicine, 2001 - archinte.highwire.org Background Marfan syndrome (MFS) is an underrecognized heritable connective
tissue disorder resulting from mutations in the gene for fibrillin-1 (FBN1).
Affected patients are at risk for aortic dissection and/or severe ocular ... Cited by 99 - Related articles - BL Direct - All 3 versions
F Tiecke, S Katzke, P Booms, PN Robinson, L … - European journal of human genetics: EJHG, 2001 - ncbi.nlm.nih.gov Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, an autosomal
dominant disorder of connective tissue with prominent manifestations in the
skeletal, ocular, and cardiovascular system. There is a remarkable degree ... Cited by 68 - Related articles - BL Direct
M Palz, F Tiecke, P Booms, B Goldner, T … - American journal of medical genetics, 2000 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 45 - Related articles - BL Direct - All 3 versions
