Marfan Database (second edition): Software and database for the analysis of mutations in the human FBN1 gene

Nucleic Acids Research

Volumn 25, Issue 1, 1997, Pages 147-150

  Collod Béroud, Gwenaëlle ^a   Béroud, Christophe ^a   Adès, Lesley ^b   Black, Cheryl ^c   Boxer, Maureen ^c   Brock, David J ^d   Godfrey, Maurice ^e   Hayward, Carolyne ^d   Karttunen, Leena ^f   Milewicz, Dianna ^g   Peltonen, Leena ^f   Richards, Robert I ^h   Wang, Mei ^e   Junien, Claudine ^a,i   Boileau, Catherine ^a,i,j  

^a INSERM   (France)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^f NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^g UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^h WOMEN S AND CHILDREN S HOSPITAL   (Australia)

ⁱ Hôpital Universitaire Ambroise Paré   (France)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBRILLIN;

ARTICLE; CHROMOSOME 15; COMPUTER PROGRAM; DATA BASE; DNA SEQUENCE; GENE MUTATION; HUMAN; INFORMATION SYSTEM; MARFAN SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL;

ANIMALS; BASE SEQUENCE; DATABASES, FACTUAL; GENES; HUMANS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; SOFTWARE;

EID: 1842336810     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/25.1.147     Document Type: Article

References (47)

1. Sakai,L., Keene,D.R. and Engvall,E. (1986) J. Cell Biol., 103, 2499-2509.
2. Magenis,R.E., Maslen,C.L., Smith,L., Allen,L. and Sakai,L. (1991) Genomics, 11, 346-351.
3. Malsen,C.L., Corson,G.M., Maddox,B.K., Glanville,R.W. and Sakai,L. (1991) Nature, 352, 334-337.
4. Corson,G.M., Chalberg,S.C., Dietz,H.C., Charbonneau,N.L. and Sakai,L.S. (1993) Genomics, 17, 476-484.
5. Pereira,L., D'Alessio,M., Ramirez,F., Lynch,J.R., Sykes,B., Pangilinan,T. and Bonadio,J. (1993) Hum. Mol. Genet., 2, 961-968.
6. 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.
7. Dietz,H.C., Saraiva,J.M., Pyeritz,R.E., Cutting,G.R. and Francomano,C.A. (1992) Hum. Mut., 1, 366-374.
8. 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. Invest., 89, 1674-1680.
9. 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.
10. Dietz,H.C., Valle,D., Francomano,C.A., Kendzior,R.J.J., Pyeritz,R.E. and Cutting,R.G. (1993) Science, 259, 680-683.
11. Godfrey,M., Vandemark,N., Wang,M., Velinov,M., Wargowski,D., Tsipouras,P., Han,J., Becker,J., Robertson,W., Droste,S. and Rao,V.H. (1993) Am. J. Hum. Genet., 53, 472-480.
12. Hayward,C., Rae,A., Porteous,M., Logie,L. and Brock,D. (1994) Hum. Mol. Genet., 3, 373-375.
13. Hewett,D., Lynch,J. and Sykes,B. (1993) Hum. Mol. Gene., 2, 475-477.
14. 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.
15. Kainulainen,K., Karttunen,L., Puhakka,L., Sakai,L. and Peltonen,L. (1994) Nature Genet., 6, 64-69.
16. Piersall,L., Dietz,H., Hall,B., Caddle,R., Pyeritz,R., Francomano,C. and McIntosh,I. (1994) Hum. Mol. Genet., 3, 1013-1014.
17. Tynan,K., Comeau,K., Pearson,M., Wilgenbus,P., Levitt,D., Gasner,C., Berg,M., Miller,D. and Francke,U. (1993) Hum. Mol. Genet., 2, 1813-1821.
18. Lönnqvist,L., Child,A., Kainulainen,K., Davidson,R., Puhakka,L. and Peltonen,L. (1994) Genomics, 19, 573-576.
19. Karttunen,L., Raghunath,M., Lönnqvisi,L. and Peltonen,L. (1994) Am. J Hum. Genet., 55, 1083-1091.
20. Milewicz,D.M. and Duvic,M. (1994) Am. J. Hum. Genet. 54, 447-453.
21. Milewicz,D.M., Grossfield,J., Cao, S-N., Kielty,C., Covitz,W. and Jewett,T. (1995) J. Clin. Invest., 95, 2373-2378.
22. 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.
23. Stahl-Hallengren,C., Ukkonen,T., Kainulainen,K., Kristofersson,U., Saxne,T., Tornqvist,K. and Peltonen,L. (1994) J. Clin. Invest., 94, 709-713.
24. Hayward,C., Porteous,M. and Brock,D. (1994) Hum. Mut., 3, 159-162.
25. Hewett,D.R., Lynch,J.R., Child,A. and Sykes,B.C. (1994) J. Med. Genet., 31, 338-339.
26. 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.
27. McInnes,R.R. and Byers,P.H. (1993). Curr. Opin. Genet. Dev.,. 3, 475-483.
28. Hayward,C., Porteous,M.E.M. and Brock,D.J.H. (1994). Mol. Cell Probes, 8, 325-327.
29. Grossfield et al. (1993) Am. J. Hum. Genet. 53, abstract 1167.
30. Tilsra,D.J. and Byers,P.H. (1993). Scientific workshop of the Marfan syndrome, Oregon, abstract.
31. 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.
32. Mathews,K., Wang,M., Corbit,C.K. and Godfrey,M. (1995) Am. J. Hum. Genet., 57, abstract 1966.
33. Spinazzola,R.M., Liu,W., Brenn,T., Bialer,M.G., Furthmayr,H. and Francke,U. (1995) Am. J. Hum. Genet., 57, abstract 1324.
34. Sood,S., Eldadah,Z.A., Krauss,W.L., McIntosh,I. and Dietz,H.C. (1996) Nature Genet. 12, 209-211.
35. Quan,F., Sakai,L. and Popovich,B.W. (1995) Am. J. Hum. Genet., 57, abstract 1936.
36. Booms,P., Vetter,U. and Robinson,P.N. (1996) Eur. J. Pediat. 155, p. 739 (abstract 42 P).
37. Grau,U., Mair,H., Detter,C., Seidel,D., Reichart,B. and Klein,H.G. (1996) Eur. J. Pediat. 155, p. 739 (abstract 43 P).
38. Lönqvist,L., Karttunen,L., Rantamäki,T., Kielty,C., Raghunath,M., Peltonen,L. (1996) Genomics, in press.
39. Milewicz et al. (1996) Circulation, in press.
40. Wang,M., Wang,J.Y., Cisler,J., Imaizumi,K., Burton,B.K., Jones,M.C., Lamberti,J.J.and Godfrey,M. (1996) Hum. Mut., in press.
41. Ades,L.C., Haan,E.A., Colley,A.F. and Richard,R.I. (1996) J. Med. Genet., 33, 665-671.
42. Wang,M., Kishnani,P., Decker-Phillips,M., Kahler,S.G., Chen,Y.T. and Godfrey,M. (1996) J. Med. Genet., 33, 1-4.
43. Collod,G., Béroud,C., Soussi,T., Junien,C. and Boileau,C. (1996) Nucleic Acids Res., 24, 137-140.
44. Beaudet,A.L. and Tsui,L.-C. (1993) Hum. Mut., 2, 245-248.
45. 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.
46. 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.
47. Dean,J., Davidson,C. and Boxer,M. (1996) J. Med. Genet. 33, abstract 5030.