Marfan Syndrome???Diagnosis and Management, Current Problems in Cardiology, vol.33, issue.1, pp.7-39, 2008. ,
DOI : 10.1016/j.cpcardiol.2007.10.001
Marfan's syndrome, The Lancet, vol.366, issue.9501, pp.1965-1976, 2005. ,
DOI : 10.1016/S0140-6736(05)67789-6
Molecular genetics of Marfan syndrome, Current Opinion in Cardiology, vol.20, issue.3, pp.194-200, 2005. ,
DOI : 10.1097/01.hco.0000162398.21972.cd
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands, Journal of Medical Genetics, vol.45, issue.6, pp.384-390, 2008. ,
DOI : 10.1136/jmg.2007.056382
URL : https://hal.archives-ouvertes.fr/inserm-00343946
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
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome, Human Molecular Genetics, vol.2, issue.10, p.1762, 1993. ,
DOI : 10.1093/hmg/2.10.1762
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
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons, Am J Hum Genet, vol.57, pp.8-21, 1995. ,
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
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
Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study, The American Journal of Human Genetics, vol.81, issue.3, pp.454-466, 2007. ,
DOI : 10.1086/520125
URL : https://hal.archives-ouvertes.fr/inserm-00344134
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
Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997, American Journal of Medical Genetics, vol.33, issue.1, pp.31-37, 1998. ,
DOI : 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome, American Journal of Medical Genetics Part A, vol.53, issue.2, pp.204-207, 2003. ,
DOI : 10.1002/(SICI)1096-8628(19961002)65:1<68::AID-AJMG11>3.0.CO;2-P
X-linked mental retardation with marfanoid habitus, American Journal of Medical Genetics, vol.23, issue.2, pp.267-274, 1987. ,
DOI : 10.1002/ajmg.1320280202
Shprintzen-Goldberg syndrome: A clinical analysis, American Journal of Medical Genetics, vol.7, issue.3, pp.202-212, 1998. ,
DOI : 10.1002/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO;2-S
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2, Nature Genetics, vol.167, issue.3, pp.275-281, 2005. ,
DOI : 10.1083/jcb.200403067
New marfanoid syndrome with craniosynostosis, American Journal of Medical Genetics, vol.71, issue.3, pp.599-604, 1987. ,
DOI : 10.7326/0003-4819-71-2-349
Demonstration of the Recurrence of Marfan-like Skeletal and Cardiovascular Manifestations Due to Germline Mosaicism for an FBN1 Mutation, The American Journal of Human Genetics, vol.65, issue.3, pp.917-921, 1999. ,
DOI : 10.1086/302545
URL : https://hal.archives-ouvertes.fr/inserm-00143425
Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia, Pediatric Pulmonology, vol.23, issue.4, pp.374-378, 2005. ,
DOI : 10.1001/archpedi.156.11.1081
polymorphism database, Human Mutation, vol.14, issue.3, pp.199-208, 2003. ,
DOI : 10.1002/humu.1380110112
URL : https://hal.archives-ouvertes.fr/inserm-00143263
UMD (Universal Mutation Database): 2005 update, Human Mutation, vol.20, issue.3, pp.184-191, 2005. ,
DOI : 10.1002/humu.20210
URL : https://hal.archives-ouvertes.fr/inserm-00143605
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
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
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
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
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.1799-1809, 1995. ,
DOI : 10.1093/hmg/4.suppl_1.1799
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
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193FBN1 mutations, Human Mutation, vol.28, issue.9, p.928, 2007. ,
DOI : 10.1002/humu.9505
mutations in patients with Marfan syndrome or a related fibrillinopathy, Human Mutation, vol.23, issue.1, p.99, 2004. ,
DOI : 10.1002/humu.9207
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome, Human Mutation, vol.316, issue.6, pp.529-539, 2005. ,
DOI : 10.1179/acb.2003.58.1.001
gene favors locus homogeneity of classical Marfan syndrome, Human Mutation, vol.14, issue.2, pp.140-146, 2004. ,
DOI : 10.1002/humu.20070
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
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
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 ,
DOI : 10.1136/jmg.39.8.589
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
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions, Journal of Medical Genetics, vol.39, issue.1 ,
DOI : 10.1136/jmg.39.1.34