Marfan syndrome: current and future clinical and genetic management of cardiovascular manifestations, Semin Thorac Cardiovasc Surg, vol.5, issue.1, pp.11-16, 1993. ,
polymorphism database, Human Mutation, vol.14, issue.3, pp.199-208, 2003. ,
DOI : 10.1002/humu.1380110112
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
Marfan's syndrome, The Lancet, vol.366, issue.9501, pp.1965-1976, 2005. ,
DOI : 10.1016/S0140-6736(05)67789-6
THE MARFAN SYNDROME: JOINT AND SKIN MANIFESTATIONS ARE PREVALENT AND CORRELATED, Rheumatology, vol.34, issue.2, pp.126-131, 1995. ,
DOI : 10.1093/rheumatology/34.2.126
The molecular genetics of Marfan syndrome and related disorders, Journal of Medical Genetics, vol.43, issue.10, pp.769-787, 2006. ,
DOI : 10.1136/jmg.2005.039669
URL : https://hal.archives-ouvertes.fr/inserm-00143572
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
International nosology of heritable disorders of connective tissue, Berlin, 1986, American Journal of Medical Genetics, vol.91, issue.3, pp.581-594, 1986. ,
DOI : 10.7326/0003-4819-93-6-813
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
Diagnosis and treatment of Marfan syndrome: a summary Marfan Syndrome: A Primer for Clinicians and Scientists, pp.13-23, 2004. ,
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
UMD (Universal Mutation Database): 2005 update, ): 2005 update, pp.184-191, 2005. ,
DOI : 10.1002/humu.20210
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
Nonparametric Estimation from Incomplete Observations, Journal of the American Statistical Association, vol.37, issue.282, pp.457-481, 1958. ,
DOI : 10.1214/aoms/1177731566
The prevalence of mental retardation: a critical review of recent literature, Developmental Medicine & Child Neurology, vol.22, issue.suppl, pp.125-132, 1997. ,
DOI : 10.1080/00207411.1981.11448872
Cardiac Manifestations of Marfan Syndrome in Infancy and Childhood, Circulation, vol.47, issue.3, pp.587-596, 1973. ,
DOI : 10.1161/01.CIR.47.3.587
The marfan syndrome in early childhood: Analysis of 15 patients diagnosed at less than 4 years of age, The American Journal of Cardiology, vol.52, issue.3, pp.353-358, 1983. ,
DOI : 10.1016/0002-9149(83)90138-8
The Clinical Course and Echocardiographic Features of Marfan's Syndrome in Childhood, Archives of Pediatrics & Adolescent Medicine, vol.141, issue.11, pp.1179-1182, 1987. ,
DOI : 10.1001/archpedi.1987.04460110049020
Diagnosis and management of infantile Marfan syndrome, Pediatrics, vol.86, issue.6, pp.888-895, 1990. ,
Marfanoid Children, American Journal of Diseases of Children, vol.145, issue.1, pp.90-93, 1991. ,
DOI : 10.1001/archpedi.1991.02160010096024
Cardiovascular manifestations of Marfan's syndrome in the young, American Heart Journal, vol.123, issue.3, pp.752-757, 1992. ,
DOI : 10.1016/0002-8703(92)90516-X
Evolving phenotype of Marfan's syndrome, Archives of Disease in Childhood, vol.76, issue.1, pp.41-46, 1997. ,
DOI : 10.1136/adc.76.1.41
Natural history of cardiovascular manifestations in Marfan syndrome, Archives of Disease in Childhood, vol.84, issue.2, pp.129-137, 2001. ,
DOI : 10.1136/adc.84.2.129
Mitral valve dysfunction in the Marfan syndrome, The American Journal of Medicine, vol.74, issue.5, pp.797-807, 1983. ,
DOI : 10.1016/0002-9343(83)91070-7
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
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited, Am J Med Genet A, vol.140, issue.10, pp.1047-1058, 2006. ,
Aneurysm Syndromes Caused by Mutations in the TGF-?? Receptor, New England Journal of Medicine, vol.355, issue.8, pp.788-798, 2006. ,
DOI : 10.1056/NEJMoa055695
A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias, J Craniofac Genet Dev Biol, vol.2, issue.1, pp.65-74, 1982. ,
A form of X-linked mental retardation with marfanoid habitus, American Journal of Medical Genetics, vol.29, issue.1, pp.311-322, 1984. ,
DOI : 10.1002/ajmg.1320170124
MR Evaluation of Dural Ectasia in Marfan Syndrome: Reassessment of the Established Criteria in Children, Adolescents, and Young Adults, Radiology, vol.234, issue.2, pp.535-541, 2005. ,
DOI : 10.1148/radiol.2342031497