-
1
-
-
28844498292
-
Pseudoxanthoma elasticum. a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
-
Chassaing N., Martin L., Calvas P., et al. Pseudoxanthoma elasticum. a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42 (2005) 881-892
-
(2005)
J Med Genet
, vol.42
, pp. 881-892
-
-
Chassaing, N.1
Martin, L.2
Calvas, P.3
-
2
-
-
0016283417
-
Pseudoxanthoma elasticum. dermal polyanions and the mineralization of elastic fibers
-
Martinez-Hernandez A., and Huffer W.E. Pseudoxanthoma elasticum. dermal polyanions and the mineralization of elastic fibers. Lab Invest 31 (1974) 181-186
-
(1974)
Lab Invest
, vol.31
, pp. 181-186
-
-
Martinez-Hernandez, A.1
Huffer, W.E.2
-
3
-
-
0028248384
-
Immunochemical identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients
-
Baccarani-Contri M., Vincenzi D., Cicchetti F., et al. Immunochemical identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients. Eur J Histochem 38 (1994) 111-123
-
(1994)
Eur J Histochem
, vol.38
, pp. 111-123
-
-
Baccarani-Contri, M.1
Vincenzi, D.2
Cicchetti, F.3
-
4
-
-
0034705145
-
Pseudoxanthoma elasticum. mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
-
Ringpfeil F., Lebwohl M.G., Christiano A.M., and Uitto J. Pseudoxanthoma elasticum. mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A 97 (2000) 6001-6006
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 6001-6006
-
-
Ringpfeil, F.1
Lebwohl, M.G.2
Christiano, A.M.3
Uitto, J.4
-
5
-
-
18844465976
-
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
-
Le Saux O., Urban Z., Tschuch C., et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 25 (2000) 223-227
-
(2000)
Nat Genet
, vol.25
, pp. 223-227
-
-
Le Saux, O.1
Urban, Z.2
Tschuch, C.3
-
6
-
-
0034123093
-
Mutations in ABCC6 cause pseudoxanthoma elasticum
-
Bergen A.A., Plomp A.S., Schuurman E.J., et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 25 (2000) 228-231
-
(2000)
Nat Genet
, vol.25
, pp. 228-231
-
-
Bergen, A.A.1
Plomp, A.S.2
Schuurman, E.J.3
-
7
-
-
0034878067
-
Molecular genetics of pseudoxanthoma elasticum
-
Ringpfeil F., Pulkkinen L., and Uitto J. Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol 10 (2001) 221-228
-
(2001)
Exp Dermatol
, vol.10
, pp. 221-228
-
-
Ringpfeil, F.1
Pulkkinen, L.2
Uitto, J.3
-
8
-
-
0037316832
-
Fundus autofluorescence and age-related macular degeneration
-
Spaide R.F. Fundus autofluorescence and age-related macular degeneration. Ophthalmology 110 (2003) 392-399
-
(2003)
Ophthalmology
, vol.110
, pp. 392-399
-
-
Spaide, R.F.1
-
9
-
-
18244373186
-
Fundus autofluorescence and central serous chorioretinopathy
-
Spaide R.F., and Klancnik Jr. J.M. Fundus autofluorescence and central serous chorioretinopathy. Ophthalmology 112 (2005) 825-833
-
(2005)
Ophthalmology
, vol.112
, pp. 825-833
-
-
Spaide, R.F.1
Klancnik Jr., J.M.2
-
10
-
-
0141496412
-
Fundus autofluorescence in patients with pseudoxanthoma elasticum
-
Shiraki K., Kohno T., Moriwaki M., and Yanagihara N. Fundus autofluorescence in patients with pseudoxanthoma elasticum. Int Ophthalmol 24 (2001) 243-248
-
(2001)
Int Ophthalmol
, vol.24
, pp. 243-248
-
-
Shiraki, K.1
Kohno, T.2
Moriwaki, M.3
Yanagihara, N.4
-
11
-
-
0027997347
-
Echographic diagnosis of drusen of the optic nerve head in patients with angioid streaks
-
Pierro L., Brancato R., Minicucci M., and Pece A. Echographic diagnosis of drusen of the optic nerve head in patients with angioid streaks. Ophthalmologica 208 (1994) 239-242
-
(1994)
Ophthalmologica
, vol.208
, pp. 239-242
-
-
Pierro, L.1
Brancato, R.2
Minicucci, M.3
Pece, A.4
-
13
-
-
0018072697
-
The pathology of angioid streaks. a study of twenty-one cases
-
Dreyer R., and Green W.R. The pathology of angioid streaks. a study of twenty-one cases. Trans Pa Acad Ophthalmol Otolaryngol 31 (1978) 158-167
-
(1978)
Trans Pa Acad Ophthalmol Otolaryngol
, vol.31
, pp. 158-167
-
-
Dreyer, R.1
Green, W.R.2
-
14
-
-
0026795401
-
Microrips of the retinal pigment epithelium
-
Ie D., Yannuzzi L.A., Spaide R.F., et al. Microrips of the retinal pigment epithelium. Arch Ophthalmol 110 (1992) 1443-1449
-
(1992)
Arch Ophthalmol
, vol.110
, pp. 1443-1449
-
-
Ie, D.1
Yannuzzi, L.A.2
Spaide, R.F.3
-
15
-
-
0033026846
-
Patterns of increased in vivo fundus autofluorescence in the junctional zone of geographic atrophy of the retinal pigment epithelium associated with age-related macular degeneration
-
Holz F.G., Bellmann C., Margaritidis M., et al. Patterns of increased in vivo fundus autofluorescence in the junctional zone of geographic atrophy of the retinal pigment epithelium associated with age-related macular degeneration. Graefes Arch Clin Exp Ophthalmol 237 (1999) 145-152
-
(1999)
Graefes Arch Clin Exp Ophthalmol
, vol.237
, pp. 145-152
-
-
Holz, F.G.1
Bellmann, C.2
Margaritidis, M.3
-
17
-
-
14644404294
-
Function of prokaryotic and eukaryotic ABC proteins in lipid transport
-
Pohl A., Devaux P.F., and Herrmann A. Function of prokaryotic and eukaryotic ABC proteins in lipid transport. Biochim Biophys Acta 1733 (2005) 29-52
-
(2005)
Biochim Biophys Acta
, vol.1733
, pp. 29-52
-
-
Pohl, A.1
Devaux, P.F.2
Herrmann, A.3
-
18
-
-
0037053355
-
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6)
-
Ilias A., Urban Z., Seidl T.L., et al. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J Biol Chem 277 (2002) 16860-16867
-
(2002)
J Biol Chem
, vol.277
, pp. 16860-16867
-
-
Ilias, A.1
Urban, Z.2
Seidl, T.L.3
-
19
-
-
18044379239
-
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)
-
Gheduzzi D., Guidetti R., Anzivino C., et al. ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Hum Mutat 24 (2004) 438-439
-
(2004)
Hum Mutat
, vol.24
, pp. 438-439
-
-
Gheduzzi, D.1
Guidetti, R.2
Anzivino, C.3
-
20
-
-
17044399328
-
Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no pseudoxanthoma elasticum phenotype
-
Wegman J.J., Hu X., Tan H., et al. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no pseudoxanthoma elasticum phenotype. Int J Cardiol 100 (2005) 389-393
-
(2005)
Int J Cardiol
, vol.100
, pp. 389-393
-
-
Wegman, J.J.1
Hu, X.2
Tan, H.3
-
21
-
-
20044363470
-
The tissue distribution of murine Abcc6 (Mrp6) during embryogenesis indicates that the presence of Abcc6 in elastic tissues is not required for elastic fiber assembly
-
Beck K., Dang K., and Boyd C.D. The tissue distribution of murine Abcc6 (Mrp6) during embryogenesis indicates that the presence of Abcc6 in elastic tissues is not required for elastic fiber assembly. J Mol Histol 36 (2005) 167-170
-
(2005)
J Mol Histol
, vol.36
, pp. 167-170
-
-
Beck, K.1
Dang, K.2
Boyd, C.D.3
-
22
-
-
0036959652
-
Extracellular matrix ligands promote RPE attachment to inner Bruch's membrane
-
Del Priore L.V., Geng L., Tezel T.H., and Kaplan H.J. Extracellular matrix ligands promote RPE attachment to inner Bruch's membrane. Curr Eye Res 25 (2002) 79-89
-
(2002)
Curr Eye Res
, vol.25
, pp. 79-89
-
-
Del Priore, L.V.1
Geng, L.2
Tezel, T.H.3
Kaplan, H.J.4
-
23
-
-
4344600751
-
Reengineering of aged Bruch's membrane to enhance retinal pigment epithelium repopulation
-
Tezel T.H., Del Priore L.V., and Kaplan H.J. Reengineering of aged Bruch's membrane to enhance retinal pigment epithelium repopulation. Invest Ophthalmol Vis Sci 45 (2004) 3337-3348
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 3337-3348
-
-
Tezel, T.H.1
Del Priore, L.V.2
Kaplan, H.J.3
-
24
-
-
12744265198
-
Impaired RPE survival on aged submacular human Bruch's membrane
-
Gullapalli V.K., Sugino I.K., Van Patten Y., et al. Impaired RPE survival on aged submacular human Bruch's membrane. Exp Eye Res 80 (2005) 235-248
-
(2005)
Exp Eye Res
, vol.80
, pp. 235-248
-
-
Gullapalli, V.K.1
Sugino, I.K.2
Van Patten, Y.3
|