L. Adès, K. Holman, K. Watson, M. Murrell, J. Clarke et al., Characterisation of an FBN1 gene mutation, G1013R, in a child with neonatal Marfan syndrome (nMFS) and mitochondrial complex I (CI) deficiency, Am J Hum Genet, vol.61, 1997.

T. Aoyama, K. Tynan, H. Dietz, U. Francke, and H. Furthmayr, Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome, Human Molecular Genetics, vol.2, issue.12, pp.2135-2140, 1993.
DOI : 10.1093/hmg/2.12.2135

T. Aoyama, U. Francke, H. Dietz, and H. Furthmayr, 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

C. Béroud and T. Soussi, APC gene: database of germline and somatic mutations in human tumors and cell lines, Nucleic Acids Research, vol.24, issue.1, pp.121-124, 1996.
DOI : 10.1093/nar/24.1.121

C. Béroud, F. Verdier, and T. Soussi, p53 gene mutation: software and database, Nucleic Acids Research, vol.24, issue.1, pp.147-150, 1996.
DOI : 10.1093/nar/24.1.147

C. Béroud and T. Soussi, p53 and APC gene mutations: software and databases, Nucleic Acids Research, vol.25, issue.1, p.138, 1997.
DOI : 10.1093/nar/25.1.138

C. Béroud, D. Joly, C. Gallou, F. Staroz, M. Orfanelli et al., Software and database for the analysis of mutations in the VHL gene, Nucleic Acids Research, vol.26, issue.1, pp.256-258, 1998.
DOI : 10.1093/nar/26.1.256

C. Béroud and T. Soussi, p53 gene mutation: software and database, Nucleic Acids Research, vol.26, issue.1, pp.200-204, 1998.
DOI : 10.1093/nar/26.1.200

C. Béroud, G. Collod-béroud, 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

C. Béroud and T. Soussi, The UMD-p53 database: New mutations and analysis tools, Human Mutation, vol.18, issue.Suppl, pp.176-181, 2003.
DOI : 10.1097/00004347-199901000-00005

N. Biery, Z. Eldadah, C. Moore, G. Stetten, 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

C. Black, A. Withers, J. Gray, A. Bridges, A. Craig et al., Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype, Human Mutation, vol.3, issue.S1, pp.198-200, 1998.
DOI : 10.1093/hmg/3.7.1069

P. Booms, A. Withers, M. Boxer, U. Kaufmann, C. Hagemeier et al., A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype, Human Genetics, vol.100, issue.2, pp.195-200, 1997.
DOI : 10.1007/s004390050489

D. Bresters, P. Nikkels, E. Meijboom, T. Hoorntje, G. Pals et al., Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome, Acta Paediatrica, vol.20, issue.1, pp.98-101, 1999.
DOI : 10.1111/j.1651-2227.1999.tb01277.x

M. Caputi, R. Kendzior, and K. Beemon, A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer, Genes & Development, vol.16, issue.14, pp.1754-1759, 2002.
DOI : 10.1101/gad.997502

C. Cardy and P. Handford, Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains 1 1Edited by M. F. Moody, Journal of Molecular Biology, vol.276, issue.5, pp.855-860, 1998.
DOI : 10.1006/jmbi.1997.1593

N. Cariello, L. Cui, C. Béroud, and T. Soussi, Database and software for the analysis of mutations in the human p53 gene, Cancer Res, vol.54, pp.4454-4460, 1994.

H. Chikumi, T. Yamamoto, Y. Ohta, E. Nanba, K. Nagata et al., Fibrillin gene ( FBN1 ) mutations in Japanese patients with Marfan syndrome, Journal of Human Genetics, vol.45, issue.2, pp.115-118, 2000.
DOI : 10.1007/s100380050027

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, L. Ades, C. Black, M. Boxer et al., 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

G. Collod-béroud, C. Béroud, L. Ades, C. Black, M. Boxer et al., 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

G. Collod-beroud and C. Boileau, Marfan syndrome in the third Millennium, European Journal of Human Genetics, vol.15, issue.11, pp.673-681, 2002.
DOI : 10.1002/pd.1970151217

URL : https://hal.archives-ouvertes.fr/hal-01669348

P. Comeglio, A. Evans, G. Brice, and A. Child, Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome, Mutation in Brief #462. Online. Hum Mutat, 2001.
DOI : 10.1002/humu.1181

T. Cooper and W. Mattox, The Regulation of Splice-Site Selection, and Its Role in Human Disease, The American Journal of Human Genetics, vol.61, issue.2, pp.259-266, 1997.
DOI : 10.1086/514856

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

J. Den-dunnen and S. Antonarakis, Nomenclature for the description of human sequence variations, Human Genetics, vol.109, issue.1, pp.121-124, 2001.
DOI : 10.1007/s004390100505

H. Dietz, G. Cutting, R. Pyeritz, C. Maslen, L. Sakai et al., 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

H. Dietz, R. Pyeritz, B. Hall, R. Cadle, A. Hamosh et al., The Marfan syndrome locus: Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3, Genomics, vol.9, issue.2, pp.355-361, 1991.
DOI : 10.1016/0888-7543(91)90264-F

H. Dietz, D. Valle, C. Francomano, R. Kendzior, R. Pyeritz et al., The skipping of constitutive exons in vivo induced by nonsense mutations, Science, vol.267, issue.4, pp.680-683, 1993.
DOI : 10.1128/MCB.9.7.2868

H. Dietz and R. Kendzior, Maintenance of an open reading frame as an additional level of scrutiny during splice site selection, Nature Genetics, vol.200, issue.2, pp.183-188, 1994.
DOI : 10.1038/352337a0

R. Doolittle, Reconstructing history with amino acid sequences1, Protein Science, vol.2, issue.2, pp.191-200, 1992.
DOI : 10.1128/jb.173.8.2506-2513.1991

URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2142198/pdf

A. Downing, V. Knott, J. Werner, C. Cardy, I. Campbell et al., Solution Structure of a Pair of Calcium-Binding Epidermal Growth Factor-like Domains: Implications for the Marfan Syndrome and Other Genetic Disorders, Cell, vol.85, issue.4, pp.597-605, 1996.
DOI : 10.1016/S0092-8674(00)81259-3

L. Faivre, R. Gorlin, M. Wirtz, M. Godfrey, N. Dagoneau et al., In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome, Journal of Medical Genetics, vol.40, issue.1, pp.34-36, 2003.
DOI : 10.1136/jmg.40.1.34

URL : https://hal.archives-ouvertes.fr/inserm-00143439

P. Frischmeyer and H. Dietz, Nonsense-mediated mRNA decayin health and disease, Human Molecular Genetics, vol.8, issue.10, pp.1893-1900, 1999.
DOI : 10.1093/hmg/8.10.1893

URL : https://academic.oup.com/hmg/article-pdf/8/10/1893/6754826/8-10-1893.pdf

C. Gallou, D. Joly, A. Méjean, F. Starosz, N. Martin et al., Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC, Human Mutation, vol.8, issue.6, pp.464-475, 1999.
DOI : 10.1002/(SICI)1098-1004(1996)8:4<348::AID-HUMU8>3.0.CO;2-3

R. Gardella, L. Nuytinck, S. Barlati, P. Van-acker, G. Tadini et al., Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient, Clinical and Experimental Dermatology, vol.106, issue.8, pp.710-713, 2001.
DOI : 10.1074/jbc.272.11.7368

J. Grossfield, S. Cao, and D. Milewicz, Mutations in the carboxy terminus of FBN1 suggest a potential genotype-phenotype correlation in the Marfan syndrome, Am J Hum Genet, vol.53, 1993.

D. Guo, F. Tan, A. Cantu, S. Plon, and D. Milewicz, FBN1 exon 2 splicing error in a patient with Marfan syndrome, American Journal of Medical Genetics, vol.275, issue.2, pp.130-134, 2001.
DOI : 10.1074/jbc.275.3.2205

D. Halliday, S. Hutchinson, S. Kettle, H. Firth, P. Wordsworth et al., Molecular analysis of eight mutations in FBN1, Human Genetics, vol.105, issue.6, pp.587-597, 1999.
DOI : 10.1007/s004399900190

D. Halliday, S. Hutchinson, L. Lonie, J. Hurst, H. Firth et al., Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice, Journal of Medical Genetics, vol.39, issue.8, pp.589-593, 2002.
DOI : 10.1136/jmg.39.8.589

C. Hayward, M. Porteous, and D. Brock, A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly, Molecular and Cellular Probes, vol.8, issue.4, pp.325-327, 1994.
DOI : 10.1006/mcpr.1994.1045

C. Hayward, A. Rae, M. Porteous, L. Logie, and D. Brock, Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15???21 in Marfan syndrome patients, Human Molecular Genetics, vol.3, issue.2, pp.373-375, 1994.
DOI : 10.1093/hmg/3.2.373

C. Hayward, M. Porteous, and D. Brock, Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations, Human Mutation, vol.4, issue.4, pp.280-289, 1997.
DOI : 10.1002/(SICI)1098-1004(1997)10:4<280::AID-HUMU3>3.0.CO;2-L

D. Hewett, J. Lynch, A. Child, and B. Sykes, A new missense mutation of fibrillin in a patient with Marfan syndrome., Journal of Medical Genetics, vol.31, issue.4, pp.338-339, 1994.
DOI : 10.1136/jmg.31.4.338

A. Jacobs, I. Toudjarska, A. Racine, P. Tsipouras, M. Kilpatrick et al., A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome, Archives of Pediatrics & Adolescent Medicine, vol.156, issue.11, pp.1081-1085, 2002.
DOI : 10.1001/archpedi.156.11.1081

C. Jeanpierre, C. Béroud, P. Niaudet, and C. Junien, Software and database for the analysis of mutations in the human WT1 gene, Nucleic Acids Research, vol.26, issue.1, pp.271-274, 1998.
DOI : 10.1093/nar/26.1.271

A. Johnson and N. Haigh, The ER Translocon and Retrotranslocation, Cell, vol.102, issue.6, pp.709-712, 2000.
DOI : 10.1016/S0092-8674(00)00059-3

URL : https://doi.org/10.1016/s0092-8674(00)00059-3

K. 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

L. Karttunen, T. Ukkonen, K. Kainulainen, A. Syvänen, and L. Peltonen, Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes, Human Mutation, vol.4, issue.S1, pp.34-37, 1998.
DOI : 10.1093/hmg/4.4.607

S. Katzke, P. Booms, F. Tiecke, M. Palz, A. Pletschacher et al., coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies, Human Mutation, vol.16, issue.3, pp.197-208, 2002.
DOI : 10.1161/01.CIR.103.20.2469

C. Kielty, T. Rantamaki, A. Child, C. Shuttleworth, and L. Peltonen, Cysteine-to-arginine point mutation in a 'hybrid' eightcysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly, J Cell Sci, vol.108, pp.1317-1323, 1995.

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

J. Korkko, I. Kaitila, L. Lonnqvist, L. Peltonen, and L. Ala-kokko, Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions, Journal of Medical Genetics, vol.39, issue.1, pp.34-41, 2002.
DOI : 10.1136/jmg.39.1.34

M. Krawczak and D. Cooper, Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment, Human Genetics, vol.86, issue.5, pp.425-441, 1991.
DOI : 10.1007/BF00194629

P. Laurent-puig, C. Béroud, and T. Soussi, APC gene: database of germline and somatic mutations in human tumors and cell lines, Nucleic Acids Research, vol.26, issue.1, pp.269-270, 1998.
DOI : 10.1093/nar/26.1.269

B. Lee, M. Godfrey, E. Vitale, H. Hori, M. Mattei et al., 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

J. Lippincott-schwartz, T. Roberts, and K. Hirshberg, Secretory Protein Trafficking and Organelle Dynamics in Living Cells, Annual Review of Cell and Developmental Biology, vol.16, issue.1, pp.557-589, 2000.
DOI : 10.1146/annurev.cellbio.16.1.557

URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4781643/pdf

W. Liu, C. Qian, K. Comeau, T. Brenn, H. Furthmayr et al., Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome, Human Molecular Genetics, vol.5, issue.10, pp.1581-1587, 1996.
DOI : 10.1093/hmg/5.10.1581

URL : https://academic.oup.com/hmg/article-pdf/5/10/1581/1707358/5-10-1581.pdf

W. Liu, C. Qian, and U. Francke, Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome, Nature Genetics, vol.238, issue.4, pp.328-329, 1997.
DOI : 10.1038/ng0395-232

W. Liu, P. Oefner, C. Qian, R. Odom, and U. Francke, Denaturing HPLC-Identified Novel FBN1 Mutations, Polymorphisms, and Sequence Variants in Marfan Syndrome and Related Connective Tissue Disorders, Genetic Testing, vol.1, issue.4, pp.237-242, 1997.
DOI : 10.1089/gte.1997.1.237

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, p.11, 2001.
DOI : 10.1016/S0168-9525(97)01068-8

I. Lo, R. Wong, F. Lam, T. Tong, and S. Lam, Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome, Chin Med J (Engl), vol.114, pp.473-476, 2001.

B. Loeys, L. Nuytinck, I. Delvaux, D. Bie, S. et al., Genotype and Phenotype Analysis of 171 Patients Referred for Molecular Study of the Fibrillin-1 Gene FBN1 Because of Suspected Marfan Syndrome, Archives of Internal Medicine, vol.161, issue.20, pp.2447-2454, 2001.
DOI : 10.1001/archinte.161.20.2447

L. Lonnqvist, L. Karttunen, T. Rantamaki, C. Kielty, M. Raghunath et al., A Point Mutation Creating an ExtraN-Glycosylation Site in Fibrillin-1 Results in Neonatal Marfan Syndrome, Genomics, vol.36, issue.3, pp.468-475, 1996.
DOI : 10.1006/geno.1996.0492

J. Lord, J. Davey, L. Frigerio, and L. Roberts, Endoplasmic reticulum-associated protein degradation, Seminars in Cell & Developmental Biology, vol.11, issue.3, pp.159-164, 2000.
DOI : 10.1006/scdb.2000.0160

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

R. Matsukawa, K. Iida, M. Nakayama, T. Mukai, Y. Okita et al., Eight novel mutations of theFBN1 gene found in Japanese patients with Marfan syndrome, Human Mutation, vol.17, issue.1, pp.71-72, 2001.
DOI : 10.1002/1098-1004(2001)17:1<71::AID-HUMU9>3.0.CO;2-0

D. Milewicz, J. Grossfield, S. Cao, C. Kielty, W. Covitz et al., A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome., Journal of Clinical Investigation, vol.95, issue.5, pp.2373-2378, 1995.
DOI : 10.1172/JCI117930

R. Montgomery, M. Geraghty, E. Bull, B. Gelb, M. Johnson et al., Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome, The American Journal of Human Genetics, vol.63, issue.6, pp.1703-1711, 1998.
DOI : 10.1086/302144

G. Nijbroek, S. Sood, I. Mcintosh, C. Francomano, E. Bull et al., Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons, Am J Hum Genet, vol.57, pp.8-21, 1995.

M. Palz, F. Tiecke, P. Booms, . Goldne-rb, T. Rosenberg et al., 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.212-221, 2000.
DOI : 10.1083/jcb.129.4.1165

G. Pepe, B. Giusti, L. Evangelisti, M. Porciani, T. Brunelli et al., Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation, Clinical Genetics, vol.1, issue.9182, pp.444-450, 2001.
DOI : 10.1002/humu.1380010504

L. Pereira, D. 'alessio, M. Ramirez, F. Lynch, J. Sykes et al., 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

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

R. Pyeritz and H. Dietz, Marfan syndrome and other microfibrilliar disorders Connective tissue and its heritable disorders: Molecular, genetic and medical aspects, pp.585-626, 2002.

F. Quan, S. Li, and B. Popovich, The identification of fibrillin mutations in Marfan syndrome using heteroduplex analysis and nucleotide sequencing, Am J Hum Genet, vol.57, 1936.

S. Reber-müller, T. Spissinger, P. Schuchert, J. Spring, and V. Schmid, An Extracellular Matrix Protein of Jellyfish Homologous to Mammalian Fibrillins Forms Different Fibrils Depending on the Life Stage of the Animal, Developmental Biology, vol.169, issue.2, pp.662-672, 1995.
DOI : 10.1006/dbio.1995.1177

P. Robinson, P. Booms, S. Katzke, M. Ladewig, L. Neumann et al., Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies, Human Mutation, vol.432, issue.3, pp.153-161, 2002.
DOI : 10.1161/01.CIR.94.11.2708

K. Rommel, M. Karck, A. Haverich, J. Schmidtke, and M. Arslan-kirchner, Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations, Human Mutation, vol.20, issue.5, pp.406-407, 2002.
DOI : 10.1002/humu.9075

I. Schrijver, W. Liu, T. Brenn, H. Furthmayr, and U. Francke, Cysteine Substitutions in Epidermal Growth Factor???Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes, The American Journal of Human Genetics, vol.65, issue.4, pp.1007-1020, 1999.
DOI : 10.1086/302582

I. Schrijver, W. Liu, R. Odom, T. Brenn, P. Oefner et al., Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes, The American Journal of Human Genetics, vol.71, issue.2, pp.223-237, 2002.
DOI : 10.1086/341581

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

T. Soussi and C. Béroud, Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides, Human Mutation, vol.293, issue.3, pp.192-200, 2003.
DOI : 10.1006/jmbi.1999.3174

C. Stahl-hallengren, T. Ukkonen, K. Kainulainen, U. Kristofersson, T. Saxne et al., 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.709-713, 1994.
DOI : 10.1172/JCI117389

F. Tiecke, P. Robinson, P. Booms, S. Katzke, C. Hagemeier et al., 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

K. Tynan, K. Comeau, M. Pearson, P. Wilgenbus, D. Levitt et al., 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.1813-1821, 1993.
DOI : 10.1093/hmg/2.11.1813

M. Varret, J. Rabes, G. Collod-béroud, C. Junien, C. Boileau et al., Software and database for the analysis of mutations in the human LDL receptor gene, Nucleic Acids Research, vol.25, issue.1, pp.172-180, 1997.
DOI : 10.1093/nar/25.1.172

URL : https://hal.archives-ouvertes.fr/inserm-00143593

M. Varret, J. Rabes, R. Thiart, M. Kotze, H. Baron et al., LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis, Nucleic Acids Research, vol.26, issue.1, pp.248-252, 1998.
DOI : 10.1093/nar/26.1.248

L. Villeger, M. Abifadel, D. Allard, J. Rabes, R. Thiart et al., The UMD-LDLR database: additions to the software and 490 new entries to the database, Human Mutation, vol.39, issue.2, 2002.
DOI : 10.1016/0092-8674(84)90188-0

M. Wang, C. Price, J. Han, J. Cisler, K. Imaizumi et al., Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome, Human Molecular Genetics, vol.4, issue.4, pp.607-613, 1995.
DOI : 10.1093/hmg/4.4.607

M. Wang, P. Kishnani, M. Decker-phillips, S. Kahler, Y. Chen et al., Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome., Journal of Medical Genetics, vol.33, issue.9, pp.760-763, 1996.
DOI : 10.1136/jmg.33.9.760

V. Wautot, C. Vercherat, J. Lespinasse, B. Chambe, G. Lenoir et al., in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein, Human Mutation, vol.85, issue.1, pp.35-47, 2002.
DOI : 10.1002/(SICI)1097-0215(20000315)85:6<877::AID-IJC23>3.0.CO;2-F

R. Youil, T. Toner, E. Bull, A. Bailey, C. Earl et al., Enzymatic mutation detection (EMD?) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII, Human Mutation, vol.16, issue.1, pp.92-93, 2000.
DOI : 10.1002/1098-1004(200007)16:1<92::AID-HUMU24>3.0.CO;2-1

B. Yuan, J. Thomas, Y. Von-kodolitsch, and R. Pyeritz, Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene,FBN1, Human Mutation, vol.32, issue.5, pp.440-446, 1999.
DOI : 10.1006/geno.1996.0138