G. Collod-béroud 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

G. Collod, 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

C. Boileau, Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes, Am. J. Hum. Genet, vol.53, pp.46-54, 1993.

S. Hasham, Mapping a Locus for Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) to 3p24-25, Circulation, vol.107, issue.25, pp.3184-3190, 2003.
DOI : 10.1161/01.CIR.0000078634.33124.95

W. Grady, Mutational inactivation of transforming growth factor ? receptor type II in microsatellite stable colon cancers, Cancer Res, vol.59, pp.320-324, 1999.

S. Markowitz, Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability, Science, vol.268, issue.5215, pp.1336-1338, 1995.
DOI : 10.1126/science.7761852

C. Lucke, Inhibiting mutations in the transforming growth factor ? type 2 receptor in recurrent human breast cancer, Cancer Res, vol.61, pp.482-485, 2001.

R. Parsons, Microsatellite instability and mutations of the transforming growth factor ? type II receptor gene in colorectal cancer, Cancer Res, vol.55, pp.5548-5550, 1995.

S. Tanaka, M. Mori, K. Mafune, S. Ohno, and K. Sugimachi, A dominant negative mutation of transforming growth factor-? receptor type II gene in microsatellite stable oesophageal carcinoma, Br. J. Cancer, vol.82, pp.1557-1560, 2000.

S. Lu, HNPCC associated with germline mutation in the TGF-?? type II receptor gene, Nature Genetics, vol.9, issue.1, pp.17-18, 1998.
DOI : 10.1016/0092-8674(92)90152-3

S. Lu, M. Kawabata, T. Imamura, K. Miyazono, and Y. Yuasa, Two Divergent Signaling Pathways for TGF-?? Separated by a Mutation of Its Type II Receptor Gene, Biochemical and Biophysical Research Communications, vol.259, issue.2, pp.385-390, 1999.
DOI : 10.1006/bbrc.1999.0788

E. Neptune, Dysregulation of TGF-?? activation contributes to pathogenesis in Marfan syndrome, Nature Genetics, vol.33, issue.3, pp.407-411, 2003.
DOI : 10.1038/ng1116

A. Kinoshita, Domain-specific mutations in TGFB1 result in Camurati- Engelmann disease, Nature Genetics, vol.26, issue.1, pp.19-20, 2000.
DOI : 10.1038/79128

E. Y. Kissin, R. Lemaire, J. H. Korn, and R. Lafyatis, Transforming growth factor ? induces fibroblast fibrillin-1 matrix formation, Arthritis & Rheumatism, vol.31, issue.11, pp.3000-3009, 2002.
DOI : 10.1002/art.10621

URL : http://onlinelibrary.wiley.com/doi/10.1002/art.10621/pdf

V. Kaartinen and D. Warburton, Fibrillin controls TGF-?? activation, Nature Genetics, vol.33, issue.3, pp.331-332, 2003.
DOI : 10.1038/ng0303-331

J. Annes, J. S. Munger, and D. B. Rifkin, Making sense of latent TGFbeta activation, Journal of Cell Science, vol.116, issue.2, pp.217-224, 2003.
DOI : 10.1242/jcs.00229

URL : http://jcs.biologists.org/content/joces/116/2/217.full.pdf

G. Collod-beroud, 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

D. Paepe, A. Devereux, R. B. Dietz, H. C. Hennekam, R. C. Pyeritz et al., 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

R. Matsukawa, 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

M. J. Roman, R. B. Devereux, R. Kramer-fox, and J. O-'loughlin, Two-dimensional echocardiographic aortic root dimensions in normal children and adults, The American Journal of Cardiology, vol.64, issue.8, pp.507-512, 1989.
DOI : 10.1016/0002-9149(89)90430-X

L. Cartegni, S. L. Chew, and A. Krainer, LISTENING TO SILENCE AND UNDERSTANDING NONSENSE: EXONIC MUTATIONS THAT AFFECT SPLICING, Nature Reviews Genetics, vol.3, issue.4, pp.285-298, 2002.
DOI : 10.1038/nrg775