A. Marfan, Un cas de déformation congénitale des quatre membres, plus prononcée aux extrémités, caractérisée par l'allongement des os avec un certain degré d'amincissement, Bull Me´m Soc Me´d Hôp Paris, vol.13, pp.220-227, 1896.

P. Beighton, A. De-paepe, and D. Danks, International nosology of heritable disorders of connective tissue, Berlin, 1986, American Journal of Medical Genetics, vol.91, issue.3, pp.581-594, 1988.
DOI : 10.7326/0003-4819-93-6-813

A. De-paepe, R. Devereux, H. Dietz, R. Hennekam, and R. Pyeritz, Revised diagnostic criteria for the Marfan syndrome, American Journal of Medical Genetics, vol.104, issue.4, pp.417-426, 1996.
DOI : 10.2214/ajr.97.1.118

P. Rose, H. Levy, and N. Ahn, A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome, Genetics in Medicine, vol.69, issue.5, pp.278-282, 2000.
DOI : 10.1097/00125817-200009000-00002

H. Weve and . Ber-arachnodaktylie, Typus Marfan), Archiv Augenheilk, vol.104, pp.1-46, 1931.

V. Mckusick, The Cardiovascular Aspects of Marfan's Syndrome: A Heritable Disorder of Connective Tissue, Circulation, vol.11, issue.3, pp.321-341, 1955.
DOI : 10.1161/01.CIR.11.3.321

L. Sakai, D. Keene, and E. Engvall, Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils, The Journal of Cell Biology, vol.103, issue.6, pp.2499-2509, 1986.
DOI : 10.1083/jcb.103.6.2499

D. Hollister, M. Godfrey, L. Sakai, and R. Pyeritz, Immunohistologic Abnormalities of the Microfibrillar-Fiber System in the Marfan Syndrome, New England Journal of Medicine, vol.323, issue.3, pp.152-159, 1990.
DOI : 10.1056/NEJM199007193230303

H. Dietz, G. Cutting, and R. Pyeritz, Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene, Nature, vol.352, issue.6333, pp.337-339, 1991.
DOI : 10.1038/352337a0

B. Lee, M. Godfrey, and E. Vitale, Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes, Nature, vol.352, issue.6333, pp.330-334, 1991.
DOI : 10.1038/352330a0

C. Maslen, G. Corson, B. Maddox, R. Glanville, and L. Sakai, Partial sequence of a candidate gene for the Marfan syndrome, Nature, vol.352, issue.6333, pp.334-337, 1991.
DOI : 10.1038/352334a0

K. 12-kainulainen, L. Pulkkinen, A. Savolainen, I. Kaitila, and L. Peltonen, Location on Chromosome 15 of the Gene Defect Causing Marfan Syndrome, New England Journal of Medicine, vol.323, issue.14, pp.935-939, 1990.
DOI : 10.1056/NEJM199010043231402

G. Corson, S. Chalberg, H. Dietz, N. Charbonneau, and L. Sakai, Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5??? End, Genomics, vol.17, issue.2, pp.476-484, 1993.
DOI : 10.1006/geno.1993.1350

L. Pereira, M. Alessio, and F. Ramirez, Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome, Human Molecular Genetics, vol.2, issue.7, pp.961-968, 1993.
DOI : 10.1093/hmg/2.7.961

N. Biery, Z. Eldadah, C. Moore, G. Setten, F. Spencer et al., Revised Genomic Organization ofFBN1and Significance for Regulated Gene Expression, Genomics, vol.56, issue.1, pp.70-77, 1999.
DOI : 10.1006/geno.1998.5697

H. Dietz and R. Pyeritz, Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders, Human Molecular Genetics, vol.4, issue.suppl_1, pp.1799-809, 1995.
DOI : 10.1093/hmg/4.suppl_1.1799

H. Sakamoto, T. Brockelmann, D. Cheresh, F. Ramirez, J. Rosenbloom et al., Cell-type specific recognition of RGD-and non- RGD-containing cell binding domains in fibrillin-1, J Biol Chem, vol.271, pp.4916-4922, 1996.

P. Handford, A. Downing, D. Reinhardt, and L. Sakai, Fibrillin: from domain structure to supramolecular assembly, Matrix Biology, vol.19, issue.6, pp.457-470, 2000.
DOI : 10.1016/S0945-053X(00)00100-1

R. Giltay, R. Timpl, and G. Kostka, Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4, Matrix Biology, vol.18, issue.5, pp.469-480, 1999.
DOI : 10.1016/S0945-053X(99)00038-4

M. Wang, C. Clericuzio, and M. Godfrey, Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2, Am J Hum Genet, vol.59, pp.1027-1034, 1996.

S. Ikegawa, T. Toda, K. Okui, and Y. Nakamura, Structure and Chromosomal Assignment of the Human S1-5 Gene (FBNL) That Is Highly Homologous to Fibrillin, Genomics, vol.35, issue.3, pp.590-592, 1996.
DOI : 10.1006/geno.1996.0402

E. Stone, A. Lotery, and F. Munier, A single EFEMP1 mutation associated with both malattia Leventinese and Doyne honeycomb retinal dystrophy, Nature Genetics, vol.22, issue.2, pp.199-202, 1999.
DOI : 10.1038/9722

H. Zhang, S. Apfelroth, and W. Hu, Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices, The Journal of Cell Biology, vol.124, issue.5, pp.855-863, 1994.
DOI : 10.1083/jcb.124.5.855

M. Raghunath, E. Putnam, and T. Ritty, Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix, J Cell Science, vol.112, pp.1093-1100, 1999.

T. Trask, T. Ritty, T. Broekelmann, C. Tisdale, and R. Mecham, N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: a possible first step in microfibril assembly, Biochemical Journal, vol.340, issue.3, pp.693-701, 1999.
DOI : 10.1042/bj3400693

R. Glanville, R. Qian, D. Mcclure, and C. Maslen, Calcium binding , hydroxylation, and glycosylation of the precursor epidermal growth factor-like domains of fibrillin-1, the Marfan gene protein, J Biol Chem, vol.269, pp.26630-26634, 1994.

X. Yuan, A. Downing, V. Knott, and P. Handford, 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.6659-6666, 1997.
DOI : 10.1093/emboj/16.22.6659

C. Baldock, A. Koster, and U. Ziese, The Supramolecular Organization of Fibrillin-Rich Microfibrils, The Journal of Cell Biology, vol.7, issue.5, pp.1045-1056, 2001.
DOI : 10.1083/jcb.124.5.855

H. Zhang, W. Hu, and F. Ramirez, Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils, The Journal of Cell Biology, vol.129, issue.4, pp.1165-1176, 1995.
DOI : 10.1083/jcb.129.4.1165

D. Reinhardt, R. Ono, and L. Sakai, Calcium Stabilizes Fibrillin-1 against Proteolytic Degradation, Journal of Biological Chemistry, vol.146, issue.2, pp.1231-1236, 1997.
DOI : 10.1002/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U
URL : http://www.jbc.org/content/272/2/1231.full.pdf

D. Reinhardt, R. Ono, H. Notbohm, P. Muller, H. Bachinger et al., Mutations in Calcium-binding Epidermal Growth Factor Modules Render Fibrillin-1 Susceptible to Proteolysis, Journal of Biological Chemistry, vol.49, issue.16, pp.12339-12345, 2000.
DOI : 10.1159/000468621
URL : http://www.jbc.org/content/275/16/12339.full.pdf

J. Ashworth, G. Murphy, and M. Rock, Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling, Biochemical Journal, vol.340, issue.1, pp.171-181, 1999.
DOI : 10.1042/bj3400171

A. Mcgettrick, V. Knott, A. Willis, and P. Handford, Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context, Human Molecular Genetics, vol.9, issue.13, pp.1987-1994, 2000.
DOI : 10.1093/hmg/9.13.1987

G. Collod-béroud, C. Béroud, and L. Adès, Marfan Database (third edition): new mutations and new routines for the software, Nucleic Acids Research, vol.26, issue.1, pp.229-233, 1998.
DOI : 10.1093/nar/26.1.229

K. 35-kainulainen, L. Sakai, and A. Child, Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides., Proceedings of the National Academy of Sciences, vol.89, issue.13, pp.5917-5921, 1992.
DOI : 10.1073/pnas.89.13.5917

W. Liu, I. Schrijver, T. Brenn, H. Furthmayr, and U. Francke, Multi-exon deletions of the FBN1gene in Marfan syndrome, BMC Medical Genetics, vol.13, issue.1, pp.11-19, 2001.
DOI : 10.1016/S0168-9525(97)01068-8

K. 37-kainulainen, L. Karttunen, L. Puhakka, L. Sakai, and L. Peltonen, Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome, Nature Genetics, vol.26, issue.1, pp.64-69, 1994.
DOI : 10.1016/0092-8674(87)90123-1

S. Sood, Z. Eldadah, W. Krause, I. Mcintosh, and H. Dietz, Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome, Nature Genetics, vol.89, issue.2, pp.209-211, 1996.
DOI : 10.1038/nm0895-798

D. Milewicz, K. Michael, N. Fisher, J. Coselli, T. Markello et al., Fibrillin-1 (FBN1) Mutations in Patients With Thoracic Aortic Aneurysms, Circulation, vol.94, issue.11, pp.2708-2711, 1996.
DOI : 10.1161/01.CIR.94.11.2708

G. Collod, C. Béroud, T. Soussi, C. Junien, and C. Boileau, Software and database for the analysis of mutations in the human FBN1 gene, Nucleic Acids Research, vol.24, issue.1, pp.137-140, 1996.
DOI : 10.1093/nar/24.1.137
URL : https://hal.archives-ouvertes.fr/inserm-00143165

G. Collod-béroud, C. Béroud, and L. Adès, Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene, Nucleic Acids Research, vol.25, issue.1, pp.147-150, 1997.
DOI : 10.1093/nar/25.1.147

C. Beroud, G. Collod-beroud, C. Boileau, T. Soussi, and C. Junien, UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases, Human Mutation, vol.3, issue.1, pp.86-94, 2000.
DOI : 10.1093/hmg/3.4.635
URL : https://hal.archives-ouvertes.fr/inserm-00143606

H. Dietz, R. Pyeritz, and E. Puffenberger, Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene., Journal of Clinical Investigation, vol.89, issue.5, pp.1674-1680, 1992.
DOI : 10.1172/JCI115766

I. Buntinx, P. Willems, S. Spitaels, P. Vanreempst, A. Depaepe et al., Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency., Journal of Medical Genetics, vol.28, issue.4, pp.267-273, 1991.
DOI : 10.1136/jmg.28.4.267
URL : http://jmg.bmj.com/content/jmedgenet/28/4/267.full.pdf

M. Godfrey, M. Raghunath, and J. Cisler, Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome, Am J Pathol, vol.146, pp.1414-1421, 1995.

E. Putnam, M. Cho, A. Zinn, J. Towbin, P. Byers et al., Delineation of the Marfan phenotype associated with mutations in exons 23???32 of theFBN1 gene, American Journal of Medical Genetics, vol.346, issue.3, pp.233-242, 1996.
DOI : 10.1038/346281a0

L. 48-karttunen, M. Raghunath, L. Lonnqvist, and L. Peltonen, A compound heterozygous Marfan patient: Two defective fibrillin alleles result in a lethal phenotype, Am J Hum Genet, vol.55, pp.1083-1091, 1994.

V. Knott, A. Downing, C. Cardy, and P. Handford, Calcium Binding Properties of an Epidermal Growth Factor-like Domain Pair from Human Fibrillin-1, Journal of Molecular Biology, vol.255, issue.1, pp.22-27, 1996.
DOI : 10.1006/jmbi.1996.0003

C. Boileau, G. Jondeau, and M. Babron, Familial Marfan-like aortic dilatation and skeletal anomalies are not linked to the fibrillin genes, Am J Hum Genet, vol.53, pp.46-57, 1993.

G. Collod, M. Babron, and G. Jondeau, A second locus for Marfan syndrome maps to chromosome 3p24.2???p25, Nature Genetics, vol.152, issue.3, pp.264-268, 1994.
DOI : 10.1001/jama.262.4.523
URL : https://hal.archives-ouvertes.fr/inserm-00143129

G. Collod, M. Chu, and T. Sasaki, Fibulin-2: Genetic Mapping and Exclusion as a Candidate Gene in Marfan Syndrome Type 2, European Journal of Human Genetics, vol.4, issue.5, pp.292-295, 1996.
DOI : 10.1159/000472216
URL : https://hal.archives-ouvertes.fr/inserm-00143563

D. Mcgookey-milewicz, R. Pyeritz, E. Crawford, and P. Byers, Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts., Journal of Clinical Investigation, vol.89, issue.1, pp.79-86, 1992.
DOI : 10.1172/JCI115589

T. Aoyama, U. Francke, H. Dietz, and H. Furthmayer, Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms., Journal of Clinical Investigation, vol.94, issue.1, pp.130-137, 1994.
DOI : 10.1172/JCI117298

T. Besser, K. Potter, G. Bryan, and G. Knowlen, An animal model of the marfan syndrome, American Journal of Medical Genetics, vol.30, issue.1, pp.159-165, 1990.
DOI : 10.1002/ajmg.1320370137

C. Kielty, M. Raghunath, and L. Siracusa, Demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils in the tight skin mouse, Matrix Biology, vol.17, issue.2, pp.1159-1166, 1998.
DOI : 10.1016/S0945-053X(98)90049-X

L. Pereira, K. Andrikopoulos, and J. Tian, Targetting of the gene encoding fibrillin???1 recapitulates the vascular aspect of Marfan syndrome, Nature Genetics, vol.266, issue.2, pp.218-222, 1997.
DOI : 10.1016/0076-6879(94)45004-8

L. Pereira, S. Lee, and B. Gayraud, Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1, Proceedings of the National Academy of Sciences, vol.393, issue.6682, pp.3819-3823, 1999.
DOI : 10.1038/30522
URL : http://www.pnas.org/content/96/7/3819.full.pdf

J. Jaubert, F. Jaubert, and N. Martin, Three new allelic mouse mutations that cause skeletal overgrowth involve the natriuretic peptide receptor C gene (Npr3), Proceedings of the National Academy of Sciences, vol.91, issue.14, pp.10278-10283, 1999.
DOI : 10.1073/pnas.91.14.6564
URL : http://www.pnas.org/content/96/18/10278.full.pdf

L. Pereira, O. Levran, and F. Ramirez, A Molecular Approach to the Stratification of Cardiovascular Risk in Families with Marfan's Syndrome, New England Journal of Medicine, vol.331, issue.3, pp.148-153, 1994.
DOI : 10.1056/NEJM199407213310302

M. Godfrey, N. Vandemark, and M. Wang, Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome, Am J Hum Genet, vol.53, pp.472-480, 1993.

T. Rantamäki, M. Raghunath, L. Karttunen, L. Lönnqvist, A. Child et al., Prenatal diagnosis of marfan syndrome: Identification of a fibrillin-1 mutation in chorionic villus sample, Prenatal Diagnosis, vol.3, issue.12, pp.1176-1181, 1995.
DOI : 10.1042/bj3020889