-
1
-
-
0346463134
-
Fibulins: Physiological and disease perspectives,
-
12
-
Argraves,W. S., Greene, L. M., Cooley,M. A., and Gallagher,W. M., 2003, Fibulins: physiological and disease perspectives, EMBO reports. 4:12
-
(2003)
EMBO reports
, vol.4
-
-
Argraves, W.S.1
Greene, L.M.2
Cooley, M.A.3
Gallagher, W.M.4
-
2
-
-
0023919632
-
Age-related macular degeneration
-
Bressler, N. M., Bressler, S. B., and Fine, S. L., 1988, Age-related macular degeneration, Surv. Ophtalmol. 32:375
-
(1988)
Surv. Ophtalmol
, vol.32
, pp. 375
-
-
Bressler, N.M.1
Bressler, S.B.2
Fine, S.L.3
-
3
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz, H. C., Cutting, C. R., Pyeritz, R. E., Maslen, C. L., Sakai, L. Y., Corson, G. M., Puffenberger, E. G., Hamosh, A., Nanthakumar, E. J., Curristin, S. M., Stetten, G., Meyers, D. A., and Francomano, C. A., 1991, Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene, Nature. 352:337
-
(1991)
Nature
, vol.352
, pp. 337
-
-
Dietz, H.C.1
Cutting, C.R.2
Pyeritz, R.E.3
Maslen, C.L.4
Sakai, L.Y.5
Corson, G.M.6
Puffenberger, E.G.7
Hamosh, A.8
Nanthakumar, E.J.9
Curristin, S.M.10
Stetten, G.11
Meyers, D.A.12
Francomano, C.A.13
-
4
-
-
0027035013
-
Clustering of fibrillin (FBN1) missense mutation inMarfan syndrome patients at cysteine residues in EGFlike domains
-
Dietz, H. C., Saraiva, J.M., Pyeritz, R. E., Cutting, G. R., and Francomano, C. A., 1992, Clustering of fibrillin (FBN1) missense mutation inMarfan syndrome patients at cysteine residues in EGFlike domains, Hum. Mutat. 1:5
-
(1992)
Hum. Mutat
, vol.1
, pp. 5
-
-
Dietz, H.C.1
Saraiva, J.M.2
Pyeritz, R.E.3
Cutting, G.R.4
Francomano, C.A.5
-
5
-
-
0002279574
-
Peculiar condition of choroiditis occurring in several members of the same family
-
Doyne, R. W., 1899, Peculiar condition of choroiditis occurring in several members of the same family, Trans. Ophthalmol. Soc. UK. 19
-
(1899)
Trans. Ophthalmol. Soc. UK
, vol.19
-
-
Doyne, R.W.1
-
6
-
-
84925558052
-
Etude clinique et histologique de la malattia leventinese: Affection appartenant en groupe des dégéné rescences hyalines du pole postérieur
-
Forni, S., Babel, J., 1962, Etude clinique et histologique de la malattia leventinese: affection appartenant en groupe des dégéné rescences hyalines du pole postérieur, Ophtalmologica. 143
-
(1962)
Ophtalmologica
, vol.143
-
-
Forni, S.1
Babel, J.2
-
7
-
-
0032703916
-
Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4
-
Giltay, R., Timpl, R., and Kostka, G., 1999, Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4, Matrix Biol. 18:5
-
(1999)
Matrix Biol
, vol.18
, pp. 5
-
-
Giltay, R.1
Timpl, R.2
Kostka, G.3
-
8
-
-
9044250844
-
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21
-
Heon, E., Piguet, B., Munier, F., Sneed, S. R., Morgan, C. M., Forni, S., Pescia, G., Schorderet, D., Taylor, C. M., Streb, L. M., Wiles, C. D., Nishimura, D. Y., Sheffield, V. C., and Stone, E. M., 1996, Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21, Arch. Ophthalmol. 114:2
-
(1996)
Arch. Ophthalmol
, vol.114
, pp. 2
-
-
Heon, E.1
Piguet, B.2
Munier, F.3
Sneed, S.R.4
Morgan, C.M.5
Forni, S.6
Pescia, G.7
Schorderet, D.8
Taylor, C.M.9
Streb, L.M.10
Wiles, C.D.11
Nishimura, D.Y.12
Sheffield, V.C.13
Stone, E.M.14
-
9
-
-
0030219709
-
Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin
-
Ikegawa, S., Toda, T., Okui, K., and Nakamura, Y., 1996, Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin, Genomics. 35:3
-
(1996)
Genomics
, vol.35
, pp. 3
-
-
Ikegawa, S.1
Toda, T.2
Okui, K.3
Nakamura, Y.4
-
10
-
-
3142714511
-
Tissue inhibitor of metalloproteinases 3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1)
-
Klenotic, P. A., Munier, F. L., Marmorstein, L. Y., and Anand-Apte, B., 2004, Tissue inhibitor of metalloproteinases 3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1), J. Biol. Chem. 279:29
-
(2004)
J. Biol. Chem
, vol.279
, pp. 29
-
-
Klenotic, P.A.1
Munier, F.L.2
Marmorstein, L.Y.3
Anand-Apte, B.4
-
11
-
-
0034282898
-
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy
-
Langton, K. P.,McKie, N., Curtis, A., Goodship, J. A., Bond, P. M., Barker, M. D., and Clarke,M., 2000, A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy, J. Biol. Chem. 275:35
-
(2000)
J. Biol. Chem
, vol.275
, pp. 35
-
-
Langton, K.P.1
McKie, N.2
Curtis, A.3
Goodship, J.A.4
Bond, P.M.5
Barker, M.D.6
Clarke, M.7
-
12
-
-
0028943214
-
An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis
-
Lecka-Czernik, B., Lumpkin, C. K. J., and Goldstein, S., 1995, An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis, Mol. Cell. Biol. 15:1
-
(1995)
Mol. Cell. Biol
, vol.15
, pp. 1
-
-
Lecka-Czernik, B.1
Lumpkin, C.K.J.2
Goldstein, S.3
-
13
-
-
0036792087
-
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration
-
Marmorstein, L. Y., Munier, F. L., Arsenijevic, Y., Schorderet, D. F., McLaughlin, P. J., Chung, D., Traboulsi, E., and Marmorstein, A.D., 2002, Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration, Proc. Natl. Acad. Sci. USA. 99:20
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 20
-
-
Marmorstein, L.Y.1
Munier, F.L.2
Arsenijevic, Y.3
Schorderet, D.F.4
McLaughlin, P.J.5
Chung, D.6
Traboulsi, E.7
Marmorstein, A.D.8
-
14
-
-
8844232647
-
association of EFEMP1 with malattia leventinese and age-related macular degeneration: A mini-review
-
Marmorstein, L. Y., 2004, association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review, Ophtalmic Genet. 25:3
-
(2004)
Ophtalmic Genet
, vol.25
, pp. 3
-
-
Marmorstein, L.Y.1
-
15
-
-
0028953639
-
Dominantly inherited drusen represent more than one disorder: A historical review
-
Piguet, B., Haimovici, R., and Bird, A. C., 1995, Dominantly inherited drusen represent more than one disorder: a historical review, Eye. 9:34
-
(1995)
Eye
, vol.9
, pp. 34
-
-
Piguet, B.1
Haimovici, R.2
Bird, A.C.3
-
16
-
-
0026086474
-
Specific EGF repeats of Notch mediate interactions with Delta and Serrate: Implications for Notch as a multifunctional receptor
-
Rebay, I., Fleming, R. J., Fehon, R. G., Cherbas, L., Cherbas, P., and Artavanis-Tsakonas, S., 1991, Specific EGF repeats of Notch mediate interactions with Delta and Serrate: implications for Notch as a multifunctional receptor, Cell. 67:4
-
(1991)
Cell
, vol.67
, pp. 4
-
-
Rebay, I.1
Fleming, R.J.2
Fehon, R.G.3
Cherbas, L.4
Cherbas, P.5
Artavanis-Tsakonas, S.6
-
17
-
-
0348013124
-
Analysis of the ARMD1 locus: Evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family
-
Schultz, D. W., Klein, M. L., Humpert, A. J., Luzier, C. W., Persun, V., Schain, M., Mahan, A., Runckel, C., Cassera, M., Vittal, V., Doyle, T.M., Martin, T. M.,Weleber, R. G., Francis, P. J., and Acott, T. S., 2003, Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family, Hum. Mol. Genet. 12:24
-
(2003)
Hum. Mol. Genet
, vol.12
, pp. 24
-
-
Schultz, D.W.1
Klein, M.L.2
Humpert, A.J.3
Luzier, C.W.4
Persun, V.5
Schain, M.6
Mahan, A.7
Runckel, C.8
Cassera, M.9
Vittal, V.10
Doyle, T.M.11
Martin, T.M.12
Weleber, R.G.13
Francis, P.J.14
Acott, T.S.15
-
18
-
-
0033027071
-
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
-
Stone, E. M., Lotery, A. J., Munier, F. M., Héon, E., Piguet, B., Guymer, R. H., Vandenburgh, K., Cousin, P., Nishimura, D., swiderski, R. E., Silvestri, G., Mackey, D. A., Hageman, G. S., Bird, A. C., Sheffield, V. C., and Schorderet, D. F., 1999, A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy, Nature Genet. 22:2
-
(1999)
Nature Genet
, vol.22
, pp. 2
-
-
Stone, E.M.1
Lotery, A.J.2
Munier, F.M.3
Héon, E.4
Piguet, B.5
Guymer, R.H.6
Vandenburgh, K.7
Cousin, P.8
Nishimura, D.9
swiderski, R.E.10
Silvestri, G.11
Mackey, D.A.12
Hageman, G.S.13
Bird, A.C.14
Sheffield, V.C.15
Schorderet, D.F.16
-
19
-
-
3242719404
-
Missense variations in the fibulin 5 gene and agerelated macular degeneration
-
Stone, E.M., Braun, T. A., Russel, R. S., Kuehn, M. H., Lotery, A. J., Moore, P. A., Eastman, C. G., Casavant, T. L., and Sheffield, V. C., 2004, Missense variations in the fibulin 5 gene and agerelated macular degeneration, N Engl J Med. 351:4
-
(2004)
N Engl J Med
, vol.351
, pp. 4
-
-
Stone, E.M.1
Braun, T.A.2
Russel, R.S.3
Kuehn, M.H.4
Lotery, A.J.5
Moore, P.A.6
Eastman, C.G.7
Casavant, T.L.8
Sheffield, V.C.9
-
20
-
-
0037686257
-
Fibulins: A versatile family of extracellular matrix proteins
-
Timpl, R., Sasaki, T., Kostka, G., and Chu, M. L., 2003, Fibulins: a versatile family of extracellular matrix proteins, Nature Rev. Mol. Cell Biol. 4:6
-
(2003)
Nature Rev. Mol. Cell Biol
, vol.4
, pp. 6
-
-
Timpl, R.1
Sasaki, T.2
Kostka, G.3
Chu, M.L.4
-
21
-
-
0002879186
-
Die Ophthalmoskopie im Rotfreien Licht
-
Verlag von Wilhelm Engelman, Berlin, pp
-
Vogt, A., 1925, Die Ophthalmoskopie im Rotfreien Licht. In Handbuch der Gesammten Augenheikunde. Untersuchungsmethoden., Verlag von Wilhelm Engelman, Berlin, pp. 1-118.
-
(1925)
Handbuch der Gesammten Augenheikunde. Untersuchungsmethoden
, pp. 1-118
-
-
Vogt, A.1
|