Marfan Database (third edition): New mutations and new routines for the software

Nucleic Acids Research

Volumn 26, Issue 1, 1998, Pages 229-233

  Collod Béroud, Gwenaëlle ^a,b   Béroud, Christophe ^a,c   Ades, Lesley ^d   Black, Cheryl ^e   Boxer, Maureen ^f   Brock, David J H ^g   Holman, Katherine J ^d   De Paepe, Anne ^h   Francke, Uta ⁱ   Grau, Ulrich ^j   Hayward, Caroline ^g   Klein, Hanns Georg ^j   Liu, Wanguo ⁱ   Nuytinck, Lieve ^k   Peltonen, Leena ^l   Perez, Ana Beatriz Alvarez ^m   Rantamäki, Terhi ^l   Junien, Claudine ^a,n   Boileau, Catherine ^a,n,o  

^a INSERM   (France)

^b Université Paris Descartes   (France)

^c HÔPITAL BROUSSAIS   (France)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e UNIVERSITY OF DUNDEE   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF EDINBURGH   (United Kingdom)

^h ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

ⁱ STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^j LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^k GHENT UNIVERSITY HOSPITAL   (Belgium)

^l NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^m FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

ⁿ HÔPITAL AMBROISE PARÉ   (France)

^o HÔPITAL NECKER ENFANTS MALADES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ARTICLE; COMPUTER PROGRAM; DATA BASE; GENE MUTATION; INTERNET; MARFAN SYNDROME; PRIORITY JOURNAL;

COMPUTER COMMUNICATION NETWORKS; DATABASES, FACTUAL; DNA MUTATIONAL ANALYSIS; HUMANS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; SOFTWARE;

EID: 0242534101     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/26.1.229     Document Type: Article

References (54)

1. Sakai, L., Keene, D.R. and Engvall, E. (1986) J. Cell Biol., 103, 2499-2509.
2. Cleary, E.G. and Gibson, M.A. (1983) Int. Rev. Connect. Tissue Res., 10, 97-209.
3. Mecham, R.P. and Heusar, J.E. (1991) The elastic fiber. In Hay,E.D. (ed.) Cell Biology of the Extracellular Matrix, second edn. Plenum Publishing Co., New York, pp 79-109.
4. Ramirez, F., Pereira, L., Zhang, H. and Lee, B. (1993) BioEssays, 15, 589-594.
5. Magenis, R.E., Maslen, C.L., Smith, L., Allen, L. and Sakai, L. (1991) Genomics, 11, 346-351.
6. Malsen, C.L., Corson, G.M., Maddox, B.K., Glanville, R.W. and Sakai, L. (1991) Nature, 352, 334-337.
7. Corson, G.M., Chalberg, S.C., Dietz, H.C., Charbonneau, N.L. and Sakai, L.S. (1993) Genomics, 17, 476-484.
8. Pereira, L., D'Alessio, M., Ramirez, F., Lynch, J.R., Sykes, B., Pangilinan, T. and Bonadio, J. (1993) Hum. Mol. Genet., 2, 961-968.
9. Pyeritz, R.E. (1993) In Royce,P.M. and Steinmann,B. (eds) Molecular, Genetic and Medical Aspects. Wiley-Liss, New York, pp 437-468.
10. Collod, G., Broud, C., Soussi, T., Junien, C., Boileau, C. (1996) Nucleic Acids Res., 24, 137-140.
11. Collod-Broud, G., Broud, C., Ads, L., Black, C., Boxer, M., Brock, D.J., Godfrey, M., Hayward, C., Karttunen, L., Milewicz, D., Peltonen, L., Richards, R.I., Wang, M., Junien, C., Boileau, C. (1997) Nucleic Acids Res., 25, 147-150.
12. Dietz, H., Valle, D., Francomano, C., Kendzior, R.J., Pyeritz, R. and Cutting, R. (1993) Science, 259, 680-683.
13. Nijbroek, G., Sood, S., McIntosh, I., Francomano, C.A., Bull, E., Pereira, L., Ramirez, F., Pyeritz, R.E. and Dietz, H.C (1995) Am. J. Hum. Genet., 57, 8-21.
14. Wang, M., Kishnani, P., Decker-Phillips, M., Kahler, S.G., Chen, Y.T. and Godfrey, M. (1996) J. Med. Genet., 33, 1-4.
15. Grau, U., Mair, H., Detter, C., Seidel, D., Reichart, B. and Klein, H.G. (1996) Eur. J. Pediat. 155, 739 (Abstract 43 P).
16. Dietz, H.C., Cutting, G.R., Pyeritz, R.E., Malsen, C.L., Sakai, L.Y., Corson, G.M., Puffenberg, E.G., Hamosh, A., Nanthakumar, E.J., Curristin, S.M., et al. (1991) Nature, 352, 337-339.
17. Dietz, H.C., Saraiva, J.M., Pyeritz, R.E., Cutting, G.R. and Francomano, C.A. (1992) Hum. Mut., 1, 366-374.
18. Dietz, H.C., Pyeritz, R.E., Puffenberger, E.G., Kendzior, R.J.J., Corson, G.M., Malsen, C.L., Sakai, L.Y., Francomano, C.A. and Cutting, G.R. (1992) J. Clin.l Invest., 89, 1674-1680.
19. Dietz, H.C., McIntosh, I., Sakai, L.Y., Corson, G.M., Chalberg, S.C., Pyeritz, R.E. and Francomano, C.A. (1993) Genomics, 17, 468-475.
20. Godfrey, M., Vandemark, N., Wang, M., Velinov, M., Wargowski, D., Tsipouras, P., Man, J., Becker, J., Robertson, W., Droste, S. and Rao, V.H. (1993) Am. J. Hum. Genet., 53, 472-480.
21. Hayward, C., Rae, A., Porteous, M., Logie, L. and Brock, D. (1994) Hum. Mol. Genet., 3, 373-375.
22. Hewett, D., Lynch, J., and Sykes, B. (1993) Hum. Mol. Genet., 2, 475-477.
23. Kainulainen, K., Sakai, L.Y., Child, A., Pope, F.M., Puhakka, L., Ryhanen, L., Palotie, A., Kaitila, I. and Peltonen, L. (1992) Proc. Natl. Acad. Sci. USA. 89, 5917-5921.
24. Kainulainen, K., Karttunen, L., Puhakka, L., Sakai, L. and Peltonen, L. (1994) Nature Genet., 6, 64-69.
25. Piersall, L., Dietz, H., Hall, B., Caddie, R., Pyeritz, R., Francomano, C. and McIntosh, I. (1994) Hum. Mol. Genet., 3, 1013-1014.
26. Tynan, K., Comeau, K., Pearson, M., Wilgenbus, P., Levin, D., Gasner, C., Berg, M., Miller, D. and Francke, U. (1993) Hum. Mol. Genet., 2, 1813-1821.
27. Lönnqvist, L., Child, A., Kainulainen, K., Davidson, R., Puhakka, L. and Peltonen, L. (1994) Genomics, 19, 573-576.
28. Karttunen, L., Raghunath, M., Lönnqvist, L. and Peltonen, L. (1994) Am. J. Hum. Genet., 55, 1083-1091.
29. Milewicz, D.M. and Duvic, M. (1994) Am. J. Hum. Genet., 54, 447-453.
30. Milewicz, D.M., Grossfield, J., Cao, S-N., Kielty, C., Covitz, W. and Jewett, T. (1995) J. Clin. Invest., 95, 2373-2378.
31. Wang, M., Price, C.E., Han, J., Cisler, J., Imaizumi, K., Van Thienen, M-N., DePaepe, A. and Godfrey, M. (1995) Hum. Mol. Genet., 4, 607-613.
32. Stahl-Hallengren, C., Ukkonen, T., Kainulainen, K., Kristofersson, U., Saxne, T., Tornqvist, K. and Peltonen, L. (1994) J. Clin. Invest., 94, 709-713.
33. Hayward, C., Porteous, M., Brock, D. (1994) Hum. Mut., 3, 159-162.
34. Hewett, D.R., Lynch, J.R., Child, A., and Sykes, B.C. (1994) J. Med. Genet., 31, 338-339.
35. McInnes, R.R. and Byers, P.H. (1993) Curr. Opin. Genet. Dev., 3, 475-483.
36. Hayward, C., Porteous, M.E.M. and Brock, D.J.H. (1994) Mol. Cell. Probes, 8, 325-327.
37. Grossfield et al. (1993) Am. J. Hum. Genet. 53, abstract 1167.
38. Tilsra, D.J. and Byers, P.H. (1993) Scientific workshop of the Marfan syndrome, Oregon, abstract.
39. Putnam, E.A., Cho, M., Zinn, A.B., Towbin, J.A., Byers, P.H. and Milewicz, D.M. (1996) Am. J. Med. Genet., 62, 233-242.
40. Mathews, K., Wang, M., Corbit, C.K. and Godfrey, M. (1995) Am. J. Hum. Genet., 57, abstract 1966.
41. Liu, W., Qian, C., Comeau, K., Brenn, T., Furthmayr, H. and Francke U. (1996) Hum. Mol. Genet., 5, 1581-1587.
42. Scod, S., Eldadah, Z.A., Krauss, W.L., McIntosh, I. and Dietz, H.C. (1996) Nature Genet., 12, 209-211.
43. Quan, F., Sakai, L. and Popovich, B.W. (1995). Am. J. Hum. Genet., 57, abstract 1936.
44. Booms, P., Vetter, U. andRobinson, P.N. (1996) Eur. J. Pediat., 155, 739 (Abstract 42 P).
45. Lönqvist, L., Karttunen, L., Rantamäki, T., Kielty, C., Raghunath, M. and Peltonen, L. (1996) Genomics, 36, 468-475.
46. Milewicz, D.M., Michael, K., Fisher, N., Coselli, J.S., Markello, T. and Biddinger, A. (1996) Circulation, 94, 2708-2711.
47. Wang, M., Wang, J.Y., Cisler, J., Imaizumi, K., Burton, B.K., Jones, M.C., Lamberti, J.J. and Godfrey, M. (1997) Hum. Mut., 9, 359-362.
48. Ades, L.C., Haan, E.A., Colley, A.F. and Richard, R.I. (1996) J. Med. Genet., 33, 665-671.
49. Liu, W., Qian C. and Francke, U. (1997) Nature Genet., 16, 328-329.
50. Kielty, C., Rantamaki, T., Child, A., Shuttleworth, A. and Peltonen, L. (1995) J. Cell Sci., 108, 1317-1323.
51. Beaudet, A.L. and Tsui, L.-C. (1993) Hum. Mut., 2, 245-248.
52. Beighton, P., de Paepe, A., Danks, D., Finidori, G., Gedde-Dahl, T., Goodman, R., Hall, J.G., Hollister, D.W., Horton, W., McKusick, V.A., et al (1988) Am. J. Med. Genet., 29, 581-594.
53. De Paepe, A., Devereux, R.B., Dietz, H.C., Hennekam, R.C.M. and Pyeritz, R.E. (1996) Am. J. Hum. Genet., 62, 417-426.
54. Perez, A.B., Pereira,L., Brunoni, D., Passos-Buenos, M.R., manuscript submitted.