-
1
-
-
84965236793
-
Hereditary familial congenital haemorragic nephritis
-
Alport AC. Hereditary familial congenital haemorragic nephritis. BMJ 1927;1:504-6.
-
(1927)
BMJ
, vol.1
, pp. 504-506
-
-
Alport, A.C.1
-
2
-
-
0015421264
-
Characteristic ultra-structural lesions of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome)
-
Hinglais N, Grünfeld JP, Blois JP. Characteristic ultra-structural lesions of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest 1972; 27: 473-87.
-
(1972)
Lab Invest
, vol.27
, pp. 473-487
-
-
Hinglais, N.1
Grünfeld, J.P.2
Blois, J.P.3
-
3
-
-
0015428067
-
Alport syndrome. Emphasizing electron microscopic studies of the glomerulus
-
Spear GS, Slusser RJ. Alport syndrome. Emphasizing electron microscopic studies of the glomerulus. Am J Pathol 1972; 69: 213-20.
-
(1972)
Am J Pathol
, vol.69
, pp. 213-220
-
-
Spear, G.S.1
Slusser, R.J.2
-
4
-
-
0015874467
-
Pathologic characteristics of hereditary nephritis
-
Churg J, Sherman RL. Pathologic characteristics of hereditary nephritis. Arch Pathol 1973; 95: 374-9.
-
(1973)
Arch Pathol
, vol.95
, pp. 374-379
-
-
Churg, J.1
Sherman, R.L.2
-
5
-
-
0025092492
-
Alport syndrome, basement membranes and collagen
-
Kashtan CE, Kleppel MM, Butkowski RJ, Michael AF, Fish AJ. Alport syndrome, basement membranes and collagen. Pediatr Nephrol 1990; 4: 523-32.
-
(1990)
Pediatr Nephrol
, vol.4
, pp. 523-532
-
-
Kashtan, C.E.1
Kleppel, M.M.2
Butkowski, R.J.3
Michael, A.F.4
Fish, A.J.5
-
6
-
-
0009857258
-
Hétérogénéité génétique, clinique et morphologique dans le syndrome d'Alport
-
Funck-Brentano JL, Bach JF, Kreis H, Grünfeld JP (eds). Paris : Flammation Médecine-Sciences
-
Gubler MC, Antignac C, Deschênes G et al. Hétérogénéité génétique, clinique et morphologique dans le syndrome d'Alport. In : Funck-Brentano JL, Bach JF, Kreis H, Grünfeld JP (eds). Actualités néphrologiques jean Hamburger. Paris : Flammation Médecine-Sciences, 1992: 15-33.
-
(1992)
Actualités Néphrologiques Jean Hamburger
, pp. 15-33
-
-
Gubler, M.C.1
Antignac, C.2
Deschênes, G.3
-
7
-
-
0028939722
-
Autosomal recessive Alport syndrome; Immunohistochemical study of type IV collagen chains
-
Gubler MC, Knebelmann B, Beziau A et al. Autosomal recessive Alport syndrome; Immunohistochemical study of type IV collagen chains. Kidney Int 1995; 47: 1142-7.
-
(1995)
Kidney Int
, vol.47
, pp. 1142-1147
-
-
Gubler, M.C.1
Knebelmann, B.2
Beziau, A.3
-
8
-
-
12044253337
-
Type IV collagen α5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody
-
Yoshioka K, Hino S, Takemura T et al. Type IV collagen α5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol 1994; 144: 986-96.
-
(1994)
Am J Pathol
, vol.144
, pp. 986-996
-
-
Yoshioka, K.1
Hino, S.2
Takemura, T.3
-
9
-
-
0021958902
-
Genetic heterogenerity of Alport syndrome
-
Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grünfeld JP. Genetic heterogenerity of Alport syndrome. Kidney Int 1985; 27: 672-7.
-
(1985)
Kidney Int
, vol.27
, pp. 672-677
-
-
Feingold, J.1
Bois, E.2
Chompret, A.3
Broyer, M.4
Gubler, M.C.5
Grünfeld, J.P.6
-
10
-
-
0002204298
-
Alport syndrome
-
Schrier RW, Gottschalk CW (eds). Boston: Little Brown
-
Atkin CL, Gregory MC, Border WA. Alport syndrome. In : Schrier RW, Gottschalk CW (eds). Diseases of the kidney. Boston: Little Brown, 1988: 617-41.
-
(1988)
Diseases of the Kidney
, pp. 617-641
-
-
Atkin, C.L.1
Gregory, M.C.2
Border, W.A.3
-
11
-
-
0019449140
-
Alport's syndrome: A report of 58 cases and a review of the literature
-
Gubler MC, Levy M, Broyer M et al. Alport's syndrome: a report of 58 cases and a review of the literature. Am J Med 1981; 70: 493-505.
-
(1981)
Am J Med
, vol.70
, pp. 493-505
-
-
Gubler, M.C.1
Levy, M.2
Broyer, M.3
-
12
-
-
0000378405
-
Causes of end-stage renal failure
-
Cameron S, Davison AM, Kerr D, Ritz E (eds). Oxford: Oxford Medical Publishers
-
Wing AJ. Causes of end-stage renal failure. In: Cameron S, Davison AM, Kerr D, Ritz E (eds). Oxford Textbook of Clinical Nephrology, Oxford: Oxford Medical Publishers, 1992: 1227-36.
-
(1992)
Oxford Textbook of Clinical Nephrology
, pp. 1227-1236
-
-
Wing, A.J.1
-
14
-
-
0017884098
-
Lenticonus anterior and Alport syndrome
-
Nielsen CE. Lenticonus anterior and Alport syndrome. Acta Ophthalmol 1977; 56: 518-30.
-
(1977)
Acta Ophthalmol
, vol.56
, pp. 518-530
-
-
Nielsen, C.E.1
-
16
-
-
0028981590
-
Deletions of both α5 (IV) and α6 (IV) collagen genes in Alport syndrome and in smooth muscle cell proliferation associated with Alport syndrome
-
Heidet L, Dahan K, Zhou J et al. Deletions of both α5 (IV) and α6 (IV) collagen genes in Alport syndrome and in smooth muscle cell proliferation associated with Alport syndrome. Hum Mol Genet 1995; 4: 99-108.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 99-108
-
-
Heidet, L.1
Dahan, K.2
Zhou, J.3
-
17
-
-
0031039618
-
-
Paris; Flammarion, Médecine-Sciences
-
Heidet L, Forestier L, Antignac C, Gubler MC. Syndrome d'Alport, une maladie héréditaire du collagène de type IV. Paris; Flammarion, Médecine-Sciences 1997; 13: 28-36.
-
(1997)
Syndrome d'Alport, une Maladie Héréditaire du Collagène de Type IV
, vol.13
, pp. 28-36
-
-
Heidet, L.1
Forestier, L.2
Antignac, C.3
Gubler, M.C.4
-
18
-
-
0023939792
-
Mapping of Alport syndrome to the long arm of the X chromosome
-
Atkin CL, Hasstedt SJ, Menlove L et al. Mapping of Alport syndrome to the long arm of the X chromosome. Am J Hum Genet 1988; 42: 249-55.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 249-255
-
-
Atkin, C.L.1
Hasstedt, S.J.2
Menlove, L.3
-
19
-
-
0025174012
-
Identification of a distinct type IV collagen a chain with restricted kidney distribution and assignment of its gene to the locus of X-linked Alport syndrome
-
Hostikka SL, Eddy RL, Byers MG, Hoyhtya M, Shows TB, Tryggvason K. Identification of a distinct type IV collagen a chain with restricted kidney distribution and assignment of its gene to the locus of X-linked Alport syndrome. Proc Natl Acad Sci USA 1990; 87: 1606-10.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 1606-1610
-
-
Hostikka, S.L.1
Eddy, R.L.2
Byers, M.G.3
Hoyhtya, M.4
Shows, T.B.5
Tryggvason, K.6
-
20
-
-
0028353676
-
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression
-
Antignac C, Knebelmann B, Drouot L et al. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. J Clin Invest 1994; 93: 1195-207.
-
(1994)
J Clin Invest
, vol.93
, pp. 1195-1207
-
-
Antignac, C.1
Knebelmann, B.2
Drouot, L.3
-
21
-
-
0029931071
-
X-linked Alport syndrome: An SSCP survey over all 51 exons of the COL4A5 gene
-
Renieri A, Bruttini M, Galli L et al. X-linked Alport syndrome: an SSCP survey over all 51 exons of the COL4A5 gene. Am J Hum Genet 1996; 58: 1192-204.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1192-1204
-
-
Renieri, A.1
Bruttini, M.2
Galli, L.3
-
22
-
-
19244363372
-
Spectrum of mutations in the COL4A5 gene in X-linked Alport syndrome
-
Knebelmann B, Breillat C, Forestier L et al. Spectrum of mutations in the COL4A5 gene in X-linked Alport syndrome. Am J Hum Genet 1996; 59: 1221-32.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1221-1232
-
-
Knebelmann, B.1
Breillat, C.2
Forestier, L.3
-
23
-
-
0028168648
-
Identification of mutation in the α3 (IV) and α4 (IV) collagen genes in autosomal recessive Alport syndrome
-
Mochizuki T, Lemmink HH, Mariyama M et al. Identification of mutation in the α3 (IV) and α4 (IV) collagen genes in autosomal recessive Alport syndrome. Nature Genet 1994; 8: 77-82.
-
(1994)
Nature Genet
, vol.8
, pp. 77-82
-
-
Mochizuki, T.1
Lemmink, H.H.2
Mariyama, M.3
-
25
-
-
0025359349
-
Renal biopsy and family studies in 65 children with isolated hematuria
-
Schröder CH, Bontemps CM, Assmann KJM et al. Renal biopsy and family studies in 65 children with isolated hematuria. Acta Pediatr Scand 1990; 79: 630-6.
-
(1990)
Acta Pediatr Scand
, vol.79
, pp. 630-636
-
-
Schröder, C.H.1
Bontemps, C.M.2
Assmann, K.J.M.3
-
26
-
-
0029738295
-
Benign familial hematuria due to mutation of the type IV collagen α4 gene
-
Lemmink HH, Nillesen WN, Mochizuki T et al. Benign familial hematuria due to mutation of the type IV collagen α4 gene. J Clin Invest 1996; 98: 1114-8.
-
(1996)
J Clin Invest
, vol.98
, pp. 1114-1118
-
-
Lemmink, H.H.1
Nillesen, W.N.2
Mochizuki, T.3
|