Ectopie du cristallin et malformations générales, Ann Ocul, vol.169, pp.21-44, 1932. ,
Brachydaktylie und angeborene kugellines als systemerkrankung, Klin Mibl Augenheilkd, vol.103, pp.392-406, 1939. ,
Weill-Marchesani syndrome in two generations: genetic heterogeneity or pseudodominance?, J Pediatr Ophthalmol, vol.11, pp.139-183, 1974. ,
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill-Marchesani syndromes, American Journal of Medical Genetics, vol.30, issue.1, pp.48-51, 1992. ,
DOI : 10.1001/archinte.1965.03860160024004
Weill-Marchesani syndrome - possible linkage of the autosomal dominant form to 15q21.1, American Journal of Medical Genetics, vol.30, issue.1, pp.68-75, 1996. ,
DOI : 10.1007/978-1-4615-9068-2_4
Possible genetic carriers in the spherophakia-brachymorphia syndrome, Am J Hum Genet, vol.7, pp.398-425, 1955. ,
Spherophakia with Brachydactyly, American Journal of Ophthalmology, vol.36, issue.11, pp.1571-1575, 1953. ,
DOI : 10.1016/0002-9394(53)91786-3
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family, Clinical Genetics, vol.352, issue.6, pp.473-481, 2000. ,
DOI : 10.1038/352330a0
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2, Human Genetics, vol.110, issue.4, pp.366-70, 2002. ,
DOI : 10.1007/s00439-002-0689-3
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome), Nature Genetics, vol.29, issue.1, pp.67-76, 1998. ,
DOI : 10.1073/pnas.93.25.14771
A comprehensive genetic map of the human genome based on 5,264 microsatellites, Nature, vol.380, issue.6570, pp.152-156, 1996. ,
DOI : 10.1038/380152a0
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons, Am J Hum Genet, vol.57, pp.8-21, 1995. ,
Solution structure of the transforming growth factor beta -binding protein-like module, a domain associated with matrix fibrils, The EMBO Journal, vol.16, issue.22, pp.6659-66, 1997. ,
DOI : 10.1093/emboj/16.22.6659
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains, Human Molecular Genetics, vol.2, issue.11, pp.1813-1834, 1993. ,
DOI : 10.1093/hmg/2.11.1813
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome, Nature Genetics, vol.26, issue.1, pp.64-73, 1994. ,
DOI : 10.1016/0092-8674(87)90123-1
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome, Nature Clin Genet, vol.35255, issue.17, pp.337-9110, 1991. ,
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome, Nature Genetics, vol.89, issue.2, pp.209-220, 1996. ,
DOI : 10.1038/nm0895-798
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly, Molecular and Cellular Probes, vol.8, issue.4, pp.325-332, 1994. ,
DOI : 10.1006/mcpr.1994.1045
A Novel Mutation of the Fibrillin Gene Causing Ectopia Lentis, Genomics, vol.19, issue.3, pp.573-579, 1994. ,
DOI : 10.1006/geno.1994.1110
Fibrillin-1 (FBN1) Mutations in Patients With Thoracic Aortic Aneurysms, Circulation, vol.94, issue.11, pp.2708-2719, 1996. ,
DOI : 10.1161/01.CIR.94.11.2708
Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome, Genomics, vol.17, issue.2, pp.468-75, 1993. ,
DOI : 10.1006/geno.1993.1349
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome., Journal of Clinical Investigation, vol.94, issue.2, pp.709-722, 1994. ,
DOI : 10.1172/JCI117389
Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome, Human Molecular Genetics, vol.5, issue.10, pp.1581-1588, 1996. ,
DOI : 10.1093/hmg/5.10.1581
URL : https://academic.oup.com/hmg/article-pdf/5/10/1581/1707358/5-10-1581.pdf
Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation, American Journal of Medical Genetics, vol.129, issue.3, pp.212-233, 2000. ,
DOI : 10.1083/jcb.129.4.1165
Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation, Clinical Genetics, vol.1, issue.9182, pp.444-50, 2001. ,
DOI : 10.1002/humu.1380010504
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype???phenotype correlations in FBN1 exons??24???40, European Journal of Human Genetics, vol.9, issue.1, pp.13-21, 2001. ,
DOI : 10.1038/sj.ejhg.5200582
URL : http://www.nature.com/ejhg/journal/v9/n1/pdf/5200582a.pdf
A new missense mutation of fibrillin in a patient with Marfan syndrome., Journal of Medical Genetics, vol.31, issue.4, pp.338-347, 1994. ,
DOI : 10.1136/jmg.31.4.338
P1148A in fibrillin-1 is not a mutation anymore, Nature Genetics, vol.57, issue.1, p.12, 1997. ,
DOI : 10.1038/ng0296-209
P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome, Human Mutation, vol.15, issue.4, pp.326-333, 1997. ,
DOI : 10.1002/(SICI)1098-1004(1997)10:4<326::AID-HUMU10>3.0.CO;2-1
MARFAN'S SYNDROME AND THE WEILL-MARCHESANI SYNDROME IN THE S. FAMILY, Annals of Internal Medicine, vol.51, issue.5, pp.1049-70, 1959. ,
DOI : 10.7326/0003-4819-51-5-1049
Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton, Am J Pathol, vol.82, pp.493-512, 1976. ,
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation., Genome Research, vol.6, issue.4, pp.300-313, 1996. ,
DOI : 10.1101/gr.6.4.300