-
1
-
-
0344533244
-
Inherited glomerular disease
-
Holiday MA, Barratt TM, Avner ED (eds) Williams and Wilkins, Baltimore
-
Gubler MC, Antignac C, Knebelmann (1994) Inherited glomerular disease. In: Pediatric nephrology. Holiday MA, Barratt TM, Avner ED (eds) Williams and Wilkins, Baltimore, pp 515-536
-
(1994)
Pediatric Nephrology
, pp. 515-536
-
-
Gubler, M.C.1
Antignac, C.2
Knebelmann3
-
2
-
-
0025815025
-
Laminin isoforms and their receptor in the developing kidney
-
Ekblom P, Klein G, Ekblom M, Sorokin L (1991) Laminin isoforms and their receptor in the developing kidney. Am J Kidney Dis 17: 603-605
-
(1991)
Am J Kidney Dis
, vol.17
, pp. 603-605
-
-
Ekblom, P.1
Klein, G.2
Ekblom, M.3
Sorokin, L.4
-
3
-
-
0021677268
-
Development and heterogeneity of antigens in the immature nephron
-
Jeraj K, Fish AJ, Yoshioka K, Michael AF (1984) Development and heterogeneity of antigens in the immature nephron. Am J Pathol 117: 180-183
-
(1984)
Am J Pathol
, vol.117
, pp. 180-183
-
-
Jeraj, K.1
Fish, A.J.2
Yoshioka, K.3
Michael, A.F.4
-
4
-
-
0017975964
-
Changes in glomerular basement membrane antigens with age
-
Anand SK, Landing BH, Heuser ET, Olson DL, Grushkin CM, Lieberman E (1978) Changes in glomerular basement membrane antigens with age. J Pediatr 92: 952-953
-
(1978)
J Pediatr
, vol.92
, pp. 952-953
-
-
Anand, S.K.1
Landing, B.H.2
Heuser, E.T.3
Olson, D.L.4
Grushkin, C.M.5
Lieberman, E.6
-
5
-
-
0023933690
-
Glomerular basement membrane thickness in children
-
Morita M, White RHR, Raafat F, Barnes JM, Standring DM (1988) Glomerular basement membrane thickness in children. Pediatr Nephrol 2: 190-195
-
(1988)
Pediatr Nephrol
, vol.2
, pp. 190-195
-
-
Morita, M.1
White, R.H.R.2
Raafat, F.3
Barnes, J.M.4
Standring, D.M.5
-
6
-
-
0019513655
-
Chemical characterization of glomerular and tubular basement membranes of men of different ages
-
Langeveld JPM, Veerkamp JH, Duyf CHP, Monnens L (1981) Chemical characterization of glomerular and tubular basement membranes of men of different ages. Kidney Int 20: 104-114
-
(1981)
Kidney Int
, vol.20
, pp. 104-114
-
-
Langeveld, J.P.M.1
Veerkamp, J.H.2
Duyf, C.H.P.3
Monnens, L.4
-
7
-
-
0022545863
-
Distribution of extra cellular matrix glycoproteins during normal development of human kidney. An immunohistochemical study
-
Mourner F, Foidart JM, Gubler MC (1986) Distribution of extra cellular matrix glycoproteins during normal development of human kidney. An immunohistochemical study. Lab Invest 54: 394-401
-
(1986)
Lab Invest
, vol.54
, pp. 394-401
-
-
Mourner, F.1
Foidart, J.M.2
Gubler, M.C.3
-
8
-
-
0025177368
-
Expression of novel basement membrane components in the developing human kidney and eye
-
Kleppel MM, Michael AF (1990) Expression of novel basement membrane components in the developing human kidney and eye. Am J Anat 187: 165-174
-
(1990)
Am J Anat
, vol.187
, pp. 165-174
-
-
Kleppel, M.M.1
Michael, A.F.2
-
9
-
-
0028171098
-
5 chains in rodent basal laminae: Sequence, distribution, association with laminins and developmental switches
-
5 chains in rodent basal laminae: sequence, distribution, association with laminins and developmental switches. J Cell Biol 127: 879-891
-
(1994)
J Cell Biol
, vol.127
, pp. 879-891
-
-
Miner, J.H.1
Sanes, J.R.2
-
10
-
-
0029073116
-
Differential expression of laminin polypeptides in developing and adult human kidney
-
Virtanen I, Laitinen L, Korhonen M (1995) Differential expression of laminin polypeptides in developing and adult human kidney. J Histochem Cytochem 43: 621-628
-
(1995)
J Histochem Cytochem
, vol.43
, pp. 621-628
-
-
Virtanen, I.1
Laitinen, L.2
Korhonen, M.3
-
13
-
-
0022361585
-
Sulfated glycosaminoglycan content of glomerular and tubular basement membrane of individuals of different ages
-
Reubsaet FAG, Veerkamp JH, Monnens L (1985) Sulfated glycosaminoglycan content of glomerular and tubular basement membrane of individuals of different ages. Nephron 41: 344-347
-
(1985)
Nephron
, vol.41
, pp. 344-347
-
-
Reubsaet, F.A.G.1
Veerkamp, J.H.2
Monnens, L.3
-
14
-
-
84965236793
-
Hereditary familial congenital haemorrhagic nephritis
-
Alport AC (1927) Hereditary familial congenital haemorrhagic nephritis. B M J 1: 504-506
-
(1927)
B M J
, vol.1
, pp. 504-506
-
-
Alport, A.C.1
-
15
-
-
0023775025
-
Genetics of classic Alport syndrome
-
Flinter FA, Cameron JS, Chantler C, Houston I, Bobrow M (1988) Genetics of classic Alport syndrome. Lancet II: 1005-1007
-
(1988)
Lancet
, vol.2
, pp. 1005-1007
-
-
Flinter, F.A.1
Cameron, J.S.2
Chantler, C.3
Houston, I.4
Bobrow, M.5
-
16
-
-
0023939792
-
Mapping of Alport syndrome to the long arm of the X chromosome
-
Atkin CL, Hasstedt SJ, Menlove L, Cannon L, Kirschner N, Schwartz C, Hguyen K, Skolnick MH (1988) Mapping of Alport syndrome to the long arm of the X chromosome. Am J Hum Genet 42: 249-255
-
(1988)
Am J Hum Genet
, vol.42
, pp. 249-255
-
-
Atkin, C.L.1
Hasstedt, S.J.2
Menlove, L.3
Cannon, L.4
Kirschner, N.5
Schwartz, C.6
Hguyen, K.7
Skolnick, M.H.8
-
17
-
-
0023727522
-
Diffuse letomyomatosis in Alport syndrome
-
Cochat P, Guibaud P, Torres R, Roussel B, Guarner V, Larbre F (1988) Diffuse letomyomatosis in Alport syndrome. J Pediatr 113: 339-343
-
(1988)
J Pediatr
, vol.113
, pp. 339-343
-
-
Cochat, P.1
Guibaud, P.2
Torres, R.3
Roussel, B.4
Guarner, V.5
Larbre, F.6
-
18
-
-
0015304377
-
Hereditary macrothrombocytopenia, nephritis and deafness
-
Epstein CJ, Sahud MA, Piel CF, Goodman JR, Bernafield MR, Kushner JH, Ablin AR (1972) Hereditary macrothrombocytopenia, nephritis and deafness. Am J Med 52: 299-310
-
(1972)
Am J Med
, vol.52
, pp. 299-310
-
-
Epstein, C.J.1
Sahud, M.A.2
Piel, C.F.3
Goodman, J.R.4
Bernafield, M.R.5
Kushner, J.H.6
Ablin, A.R.7
-
19
-
-
44949289607
-
Posttransplant anti-glomerular basement membrane nephritis in related males with Alport syndrome
-
Kashtan CE, Butkowski RJ, Kleppel MM, Roy First M, Michael AF (1990) Posttransplant anti-glomerular basement membrane nephritis in related males with Alport syndrome. J Lab Clin Med 116: 508-515
-
(1990)
J Lab Clin Med
, vol.116
, pp. 508-515
-
-
Kashtan, C.E.1
Butkowski, R.J.2
Kleppel, M.M.3
Roy First, M.4
Michael, A.F.5
-
20
-
-
0023803375
-
Localization of the gene for X-linked Alport's syndrome
-
Brunner HG, Schröder CH, Bennekom C van, Lambermon E, Tuerlings J, Menzel D, Olbing H, Monnens LAH, Wieringa B, Ropers HH (1988) Localization of the gene for X-linked Alport's syndrome. Kidney Int 34: 507-510
-
(1988)
Kidney Int
, vol.34
, pp. 507-510
-
-
Brunner, H.G.1
Schröder, C.H.2
Van Bennekom, C.3
Lambermon, E.4
Tuerlings, J.5
Menzel, D.6
Olbing, H.7
Monnens, L.A.H.8
Wieringa, B.9
Ropers, H.H.10
-
21
-
-
0024650815
-
Localization of the gene for classic Alport syndrome
-
Flinter FA, Abbs S, Bobrow M (1989) Localization of the gene for classic Alport syndrome. Genomics 4: 335-338
-
(1989)
Genomics
, vol.4
, pp. 335-338
-
-
Flinter, F.A.1
Abbs, S.2
Bobrow, M.3
-
22
-
-
0027440916
-
Alport syndrome: From bedside to genome to bedside
-
Kashtan CE, Michael AF (1993) Alport syndrome: from bedside to genome to bedside. Am J Kidney Dis 22: 627-640
-
(1993)
Am J Kidney Dis
, vol.22
, pp. 627-640
-
-
Kashtan, C.E.1
Michael, A.F.2
-
23
-
-
0029012584
-
Structural-functional relationships in Alport syndrome
-
Kim KH, Kim Y, Gubler MC, Steffes MW, Lane PH, Kashtan CE, Crosson JT, Mauer SM (1995) Structural-functional relationships in Alport syndrome. J Am Soc Nephrol 5: 1659-1668
-
(1995)
J Am Soc Nephrol
, vol.5
, pp. 1659-1668
-
-
Kim, K.H.1
Kim, Y.2
Gubler, M.C.3
Steffes, M.W.4
Lane, P.H.5
Kashtan, C.E.6
Crosson, J.T.7
Mauer, S.M.8
-
24
-
-
0023193901
-
Alport familial nephritis: Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane
-
Kleppel MM, Kashtan CE, Butkowski RJ, Fish AJ, Michael AF (1987) Alport familial nephritis: absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane. J Clin Invest 80: 263-266
-
(1987)
J Clin Invest
, vol.80
, pp. 263-266
-
-
Kleppel, M.M.1
Kashtan, C.E.2
Butkowski, R.J.3
Fish, A.J.4
Michael, A.F.5
-
25
-
-
0025120351
-
A study by immunofluorescence of the NC1 domain of collagen type IV in glomerular basement membranes of two patients with hereditary nephritis
-
Thorner P, Baumal R, Eddy A, Marrano PM (1990) A study by immunofluorescence of the NC1 domain of collagen type IV in glomerular basement membranes of two patients with hereditary nephritis. Virchows Archiv [A] 416: 205-212
-
(1990)
Virchows Archiv [A]
, vol.416
, pp. 205-212
-
-
Thorner, P.1
Baumal, R.2
Eddy, A.3
Marrano, P.M.4
-
26
-
-
0024442303
-
Distribution of familial nephritis antigen in normal tissue and renal basement membranes of patients with homozygous and heterozygous Alport familial nephritis
-
Kleppel MM, Kashtan C, Santi PA, Wieslandcr J, Michael AF (1989) Distribution of familial nephritis antigen in normal tissue and renal basement membranes of patients with homozygous and heterozygous Alport familial nephritis. Lab Invest 61: 278-289
-
(1989)
Lab Invest
, vol.61
, pp. 278-289
-
-
Kleppel, M.M.1
Kashtan, C.2
Santi, P.A.3
Wieslandcr, J.4
Michael, A.F.5
-
27
-
-
0024380978
-
Hereditary nephritis: Immunoblotting studies of the glomerular basement membrane
-
Savage COS, Noel LH, Crutcher E, Price SRG, Grunfeld JP, Lockwood CM (1989) Hereditary nephritis: immunoblotting studies of the glomerular basement membrane. Lab Invest 60: 613-618
-
(1989)
Lab Invest
, vol.60
, pp. 613-618
-
-
Savage, C.O.S.1
Noel, L.H.2
Crutcher, E.3
Price, S.R.G.4
Grunfeld, J.P.5
Lockwood, C.M.6
-
28
-
-
0024343256
-
The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome: Characterization of the antibody target
-
Van den Heuvel LPWJ, Schröder CH, Savage COS, Menzel D, Assmann KJM, Monnens LAH, Veerkamp JH (1989) The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome: characterization of the antibody target. Pediatr Nephrol 3: 406-413
-
(1989)
Pediatr Nephrol
, vol.3
, pp. 406-413
-
-
Van den Heuvel, L.P.W.J.1
Schröder, C.H.2
Savage, C.O.S.3
Menzel, D.4
Assmann, K.J.M.5
Monnens, L.A.H.6
Veerkamp, J.H.7
-
29
-
-
0021880472
-
CDNA clones coding for the pro-α1(IV) chain of human type IV procollagen revealed an unusual homology of amino acid sequences in two halves of the carboxyterminal domain
-
Pihlajaniemi T, Tryggvason K, Myers J, Kurkinen M, Lebo R, Cheung M, Prockop DJ, Boyd CD (1985) cDNA clones coding for the pro-α1(IV) chain of human type IV procollagen revealed an unusual homology of amino acid sequences in two halves of the carboxyterminal domain. J Biol Chem 260: 7681-7687
-
(1985)
J Biol Chem
, vol.260
, pp. 7681-7687
-
-
Pihlajaniemi, T.1
Tryggvason, K.2
Myers, J.3
Kurkinen, M.4
Lebo, R.5
Cheung, M.6
Prockop, D.J.7
Boyd, C.D.8
-
30
-
-
0025174012
-
Identification of a distinct type IV collagen a chain with restricted kidney distribution and assignment to the locus of X chromosome linked Alport syndrome
-
Hostikka SL, Eddy RL, Byers MG, Höyhtya M, Shows TB, Tryggvason K (1990) Identification of a distinct type IV collagen a chain with restricted kidney distribution and assignment to the locus of X chromosome linked Alport syndrome. Proc Natl Acad Sci USA 87: 1606-1610
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 1606-1610
-
-
Hostikka, S.L.1
Eddy, R.L.2
Byers, M.G.3
Höyhtya, M.4
Shows, T.B.5
Tryggvason, K.6
-
31
-
-
0028151407
-
Complete primary structure of the human type IV collagen α4(IV) chain
-
Leinonen A, Mariyama M, Mochizuki T, Tryggvason K, Reeders ST (1994) Complete primary structure of the human type IV collagen α4(IV) chain. J Biol Chem 269: 26172-26177
-
(1994)
J Biol Chem
, vol.269
, pp. 26172-26177
-
-
Leinonen, A.1
Mariyama, M.2
Mochizuki, T.3
Tryggvason, K.4
Reeders, S.T.5
-
32
-
-
0028106032
-
Complete primary structure of the human α3(IV) collagen chain. Coexpression of the α3(IV) and α4(IV) collagen chain in human tissues
-
Mariyama M, Leinonen A, Mochizuki T, Tryggvason K, Reeders ST (1994) Complete primary structure of the human α3(IV) collagen chain. Coexpression of the α3(IV) and α4(IV) collagen chain in human tissues. J Biol Chem 269: 23013-23017
-
(1994)
J Biol Chem
, vol.269
, pp. 23013-23017
-
-
Mariyama, M.1
Leinonen, A.2
Mochizuki, T.3
Tryggvason, K.4
Reeders, S.T.5
-
33
-
-
0025360098
-
Molecular cloning of α5(IV) collagen and assignment of the gene to the region of the X-chromosome containing the Alport syndrome locus
-
Myers JC, Jones TA, Pohjalainen ER, Kadri AS, Goddard AD, Sheer D, Solomon E, Pihlajaniemi T (1990) Molecular cloning of α5(IV) collagen and assignment of the gene to the region of the X-chromosome containing the Alport syndrome locus. Am J Hum Genet 46: 1024-1033
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1024-1033
-
-
Myers, J.C.1
Jones, T.A.2
Pohjalainen, E.R.3
Kadri, A.S.4
Goddard, A.D.5
Sheer, D.6
Solomon, E.7
Pihlajaniemi, T.8
-
34
-
-
0025292712
-
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
-
Barker D, Hostikka SL, Zhou J, Chow T, Oliphant AR, Gerken SC, Gregory MCV, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248: 1224-1227
-
(1990)
Science
, vol.248
, pp. 1224-1227
-
-
Barker, D.1
Hostikka, S.L.2
Zhou, J.3
Chow, T.4
Oliphant, A.R.5
Gerken, S.C.6
Gregory, M.C.V.7
Skolnick, M.H.8
Atkin, C.L.9
Tryggvason, K.10
-
35
-
-
0028556701
-
3rd International workshop on Alport syndrome. Conference report
-
Flinter F (1994) 3rd International workshop on Alport syndrome. Conference report. Pediatr Nephrol 8: 780-782
-
(1994)
Pediatr Nephrol
, vol.8
, pp. 780-782
-
-
Flinter, F.1
-
36
-
-
0027485643
-
Deletion of the paired α5(IV) and α6(IV) collagen genes in inherited smooth muscle tumors
-
Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, Paepe A de, Tryggvason K, Reeders ST (1993) Deletion of the paired α5(IV) and α6(IV) collagen genes in inherited smooth muscle tumors. Science 261: 1167-1169
-
(1993)
Science
, vol.261
, pp. 1167-1169
-
-
Zhou, J.1
Mochizuki, T.2
Smeets, H.3
Antignac, C.4
Laurila, P.5
De Paepe, A.6
Tryggvason, K.7
Reeders, S.T.8
-
37
-
-
0028229871
-
Identification of a new collagen IV chain, α6(IV) by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5
-
Oohashi T, Sugimoto M, Mattel M-G, Ninomiya Y (1994) Identification of a new collagen IV chain, α6(IV) by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5. J Biol Chem 269: 7520-7526
-
(1994)
J Biol Chem
, vol.269
, pp. 7520-7526
-
-
Oohashi, T.1
Sugimoto, M.2
Mattel, M.-G.3
Ninomiya, Y.4
-
38
-
-
0028168648
-
Identification of mutations in the α3(TV) and 1d4(IV) collagen genes in autosomal recessive Alport syndrome
-
Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler M-C, Pirson Y, Verellen-Dumoulin C, Schröder CH, Smeets HJM, Reeders ST (1994) Identification of mutations in the α3(TV) and 1d4(IV) collagen genes in autosomal recessive Alport syndrome. Nature Genet 8: 77-82
-
(1994)
Nature Genet
, vol.8
, pp. 77-82
-
-
Mochizuki, T.1
Lemmink, H.H.2
Mariyama, M.3
Antignac, C.4
Gubler, M.-C.5
Pirson, Y.6
Verellen-Dumoulin, C.7
Schröder, C.H.8
Smeets, H.J.M.9
Reeders, S.T.10
-
39
-
-
0028069132
-
Mutations in the type IV α3 (COL4A3) gene in autosomal recessive Alport syndrome
-
Lemmink HH, Mochizuki T, Van den Heuvel LPWJ, Schröder CH, Barrientos A, Monnens LAH, Van Oost BA, Brunner HG, Reeders ST, Smeets HIM (1994) Mutations in the type IV α3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 3: 1269-1273
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1269-1273
-
-
Lemmink, H.H.1
Mochizuki, T.2
Van den Heuvel, L.P.W.J.3
Schröder, C.H.4
Barrientos, A.5
Monnens, L.A.H.6
Van Oost, B.A.7
Brunner, H.G.8
Reeders, S.T.9
Smeets, H.I.M.10
-
40
-
-
0028981590
-
Deletions of both α5(IV) and α6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours
-
Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JDM, Leppig KA, Proesmans W, Guyot C, Roussel B, Tryggvason K, Grünfeld JP, Gubler MC, Antignac C (1995) Deletions of both α5(IV) and α6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. Hum Mol Genet 4: 99-108
-
(1995)
Hum Mol Genet
, vol.4
, pp. 99-108
-
-
Heidet, L.1
Dahan, K.2
Zhou, J.3
Xu, Z.4
Cochat, P.5
Gould, J.D.M.6
Leppig, K.A.7
Proesmans, W.8
Guyot, C.9
Roussel, B.10
Tryggvason, K.11
Grünfeld, J.P.12
Gubler, M.C.13
Antignac, C.14
-
41
-
-
0028969936
-
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome
-
Knebelmann B, Forestier L, Drouot L, Quinones S, Chuet C, Benessy F, Saus J, Antignac C (1995) Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. Hum Mol Genet 4: 675-679
-
(1995)
Hum Mol Genet
, vol.4
, pp. 675-679
-
-
Knebelmann, B.1
Forestier, L.2
Drouot, L.3
Quinones, S.4
Chuet, C.5
Benessy, F.6
Saus, J.7
Antignac, C.8
-
42
-
-
0020070803
-
Renal transplantation in Alport's syndrome: Anti-glomerular basement membrane glomerulonephritis in the allograft
-
Milliner DS, Pieredes AN, Holley KE (1982) Renal transplantation in Alport's syndrome: anti-glomerular basement membrane glomerulonephritis in the allograft. Mayo Clin Proc 57: 35-43
-
(1982)
Mayo Clin Proc
, vol.57
, pp. 35-43
-
-
Milliner, D.S.1
Pieredes, A.N.2
Holley, K.E.3
-
43
-
-
0027357801
-
Genetic, clinical and morphologic heterogeneity in Alport syndrome
-
Gubler MC, Antignac C, Deschenes G, Knebelmann B, Hors-Cayla MC, Grünfeld JP, Broyer M, Habib R (1993) Genetic, clinical and morphologic heterogeneity in Alport syndrome. Adv Nephrol 22: 15-35
-
(1993)
Adv Nephrol
, vol.22
, pp. 15-35
-
-
Gubler, M.C.1
Antignac, C.2
Deschenes, G.3
Knebelmann, B.4
Hors-Cayla, M.C.5
Grünfeld, J.P.6
Broyer, M.7
Habib, R.8
-
44
-
-
0028945633
-
COL4A5 gene deletion and production of post-transplant anti-α3(IV) collagen alloantibodies in Alport syndrome
-
Kalluri R, Weber M, Netzer KO, Sun MJ, Neilson EG, Hudson BG (1994) COL4A5 gene deletion and production of post-transplant anti-α3(IV) collagen alloantibodies in Alport syndrome. Kidney Int 47: 1199-1204
-
(1994)
Kidney Int
, vol.47
, pp. 1199-1204
-
-
Kalluri, R.1
Weber, M.2
Netzer, K.O.3
Sun, M.J.4
Neilson, E.G.5
Hudson, B.G.6
-
45
-
-
0024343256
-
The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome after renal transplantation: Characterization of the antibody target
-
Van den Heuvel LPWJ, Schröder CH, Savage COS, Assmann KJM, Monnens LAH, Veerkamp JH (1989) The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome after renal transplantation: characterization of the antibody target. Pediatr Nephrol 3: 406-413
-
(1989)
Pediatr Nephrol
, vol.3
, pp. 406-413
-
-
Van den Heuvel, L.P.W.J.1
Schröder, C.H.2
Savage, C.O.S.3
Assmann, K.J.M.4
Monnens, L.A.H.5
Veerkamp, J.H.6
-
46
-
-
0026801049
-
Molecular genetics of hereditary nephritis
-
Reeders ST (1992) Molecular genetics of hereditary nephritis. Kidney Int 42: 783-792
-
(1992)
Kidney Int
, vol.42
, pp. 783-792
-
-
Reeders, S.T.1
-
47
-
-
0026709652
-
Evidence for separate networks of classical and novel basement membrane collagen. Characterization of α3(IV)-Alport antigen heterodimer
-
Kleppel MM, Fan WW, Cheong HT, Michael AF (1992) Evidence for separate networks of classical and novel basement membrane collagen. Characterization of α3(IV)-Alport antigen heterodimer. J Biol Chem 267: 4137-4142
-
(1992)
J Biol Chem
, vol.267
, pp. 4137-4142
-
-
Kleppel, M.M.1
Fan, W.W.2
Cheong, H.T.3
Michael, A.F.4
-
48
-
-
0026740928
-
Distribution of the α1 and α2 chains of collagen IV and of collagens V and VI in Alport syndrome
-
Kashtan CE, Kim Y (1992) Distribution of the α1 and α2 chains of collagen IV and of collagens V and VI in Alport syndrome. Kidney Int 42: 115-126
-
(1992)
Kidney Int
, vol.42
, pp. 115-126
-
-
Kashtan, C.E.1
Kim, Y.2
-
49
-
-
0028939722
-
Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution
-
Gubler MC, Knebelman B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C (1995) Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int 47: 1142-1147
-
(1995)
Kidney Int
, vol.47
, pp. 1142-1147
-
-
Gubler, M.C.1
Knebelman, B.2
Beziau, A.3
Broyer, M.4
Pirson, Y.5
Haddoum, F.6
Kleppel, M.M.7
Antignac, C.8
-
50
-
-
0027974208
-
Immunohistochemical study of the α1 - 5 chains of type IV collagen in hereditary nephritis
-
Nakanishi K, Yoshikawa N, Lijima K, Kitagawa K, Nakamura H, Ito H, Yoshioka K, Kagawa M, Sado Y (1995) Immunohistochemical study of the α1 - 5 chains of type IV collagen in hereditary nephritis. Kidney Int 46: 1413-1421
-
(1995)
Kidney Int
, vol.46
, pp. 1413-1421
-
-
Nakanishi, K.1
Yoshikawa, N.2
Lijima, K.3
Kitagawa, K.4
Nakamura, H.5
Ito, H.6
Yoshioka, K.7
Kagawa, M.8
Sado, Y.9
-
51
-
-
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, Maki S, Wieslander J, Takekoshi Y, Makino H, Kagawa M, Sado Y, Kashtan CE (1994) Type IV collagen α5 chain; normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol 144: 986-996
-
(1994)
Am J Pathol
, vol.144
, pp. 986-996
-
-
Yoshioka, K.1
Hino, S.2
Takemura, T.3
Maki, S.4
Wieslander, J.5
Takekoshi, Y.6
Makino, H.7
Kagawa, M.8
Sado, Y.9
Kashtan, C.E.10
-
52
-
-
84981583896
-
No linkage to the COL4A3 gene locus in Japanese thin basement membrane disease families
-
Yamazaki H, Nakagawa Y, Saito A, Nishi S, Sakatsume M, Takeda T, Maruyama Y, Ogino S, Maruyama S, Mochizuki T, Reeders S, Arakawa M (1995) No linkage to the COL4A3 gene locus in Japanese thin basement membrane disease families. Nephrol 1: 315-321
-
(1995)
Nephrol
, vol.1
, pp. 315-321
-
-
Yamazaki, H.1
Nakagawa, Y.2
Saito, A.3
Nishi, S.4
Sakatsume, M.5
Takeda, T.6
Maruyama, Y.7
Ogino, S.8
Maruyama, S.9
Mochizuki, T.10
Reeders, S.11
Arakawa, M.12
-
53
-
-
21044456151
-
Congenital absence or delayed development of the patella
-
Little EM (1897) Congenital absence or delayed development of the patella. Lancet II: 781-784
-
(1897)
Lancet
, vol.2
, pp. 781-784
-
-
Little, E.M.1
-
54
-
-
78651007833
-
Osseous dysplasia and dystrophy of the nail: Review of literature and report of a case
-
Mino RA, Mino VH, Livingstone RG (1948) Osseous dysplasia and dystrophy of the nail: review of literature and report of a case. Am Rontgenol 60: 633-641
-
(1948)
Am Rontgenol
, vol.60
, pp. 633-641
-
-
Mino, R.A.1
Mino, V.H.2
Livingstone, R.G.3
-
56
-
-
0020676171
-
The nail-patella syndrome. A report of two cases and a literature review
-
Raman D, Haslock I (1983) The nail-patella syndrome. A report of two cases and a literature review. Br J Rheumatol 22: 41-46
-
(1983)
Br J Rheumatol
, vol.22
, pp. 41-46
-
-
Raman, D.1
Haslock, I.2
-
59
-
-
50249222653
-
A familial dyschondroplasia associated with anonychia and other deformities
-
Lester AM (1936] A familial dyschondroplasia associated with anonychia and other deformities. Lancet II: 1519
-
(1936)
Lancet
, vol.2
, pp. 1519
-
-
Lester, A.M.1
-
60
-
-
0015406634
-
Renal disease in nail-patella syndrome: Clinical and morphologic studies
-
Hoyer JR, Michael AF, Vernier RL (1972) Renal disease in nail-patella syndrome: clinical and morphologic studies. Kidney Int 2: 231-238
-
(1972)
Kidney Int
, vol.2
, pp. 231-238
-
-
Hoyer, J.R.1
Michael, A.F.2
Vernier, R.L.3
-
61
-
-
0015597714
-
The nephropathy of the nail-patella syndrome
-
Bennett WM, Musgrave JE, Campbell RA, Elliot D, Cox R, Brooks RE, Lovrien EW, Beals RK, Porter GA (1973) The nephropathy of the nail-patella syndrome. Am J Med 54: 304-319
-
(1973)
Am J Med
, vol.54
, pp. 304-319
-
-
Bennett, W.M.1
Musgrave, J.E.2
Campbell, R.A.3
Elliot, D.4
Cox, R.5
Brooks, R.E.6
Lovrien, E.W.7
Beals, R.K.8
Porter, G.A.9
-
63
-
-
0015160492
-
The glomerular basement membrane in the nail-patella syndrome
-
Ben Bassat M, Cohen L, Rosenfeld J (1971) The glomerular basement membrane in the nail-patella syndrome. Arch Pathol 92: 350-355
-
(1971)
Arch Pathol
, vol.92
, pp. 350-355
-
-
Ben Bassat, M.1
Cohen, L.2
Rosenfeld, J.3
-
65
-
-
0018897462
-
Nail-patella syndrome
-
Sabnis SG, Antonovych TT, Argy WP, Rawowski TA, Candy DR, Salcedo JR (1980) Nail-patella syndrome Clin Nephrol 14: 148-153
-
(1980)
Clin Nephrol
, vol.14
, pp. 148-153
-
-
Sabnis, S.G.1
Antonovych, T.T.2
Argy, W.P.3
Rawowski, T.A.4
Candy, D.R.5
Salcedo, J.R.6
-
66
-
-
0020058336
-
Nail-patella-like lesions in the absence of skeletal abnormalities
-
Dombros N, Katz A (1982) Nail-patella-like lesions in the absence of skeletal abnormalities. Am J Kidney Dis 1: 237-240
-
(1982)
Am J Kidney Dis
, vol.1
, pp. 237-240
-
-
Dombros, N.1
Katz, A.2
-
67
-
-
0021717772
-
An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail-patella syndrome. Report of a kindred
-
Salcedo JR (1984) An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail-patella syndrome. Report of a kindred. Am J Med Genet 19: 579-584
-
(1984)
Am J Med Genet
, vol.19
, pp. 579-584
-
-
Salcedo, J.R.1
-
68
-
-
0000539456
-
Genetic linkage between the ABO and nail-patella loci
-
Renwick JH, Lawler SD (1955) Genetic linkage between the ABO and nail-patella loci. Ann Hum Genet 19: 312-331
-
(1955)
Ann Hum Genet
, vol.19
, pp. 312-331
-
-
Renwick, J.H.1
Lawler, S.D.2
-
70
-
-
0028868128
-
Linkage analysis of the nail-patella syndrome
-
Campeau E, Watkins D, Rouleau GA, Babul R, Buchanan JA, Meschino W, Der Kaloustian VM (1995) Linkage analysis of the nail-patella syndrome. Am J Hum Genet 56: 243-247
-
(1995)
Am J Hum Genet
, vol.56
, pp. 243-247
-
-
Campeau, E.1
Watkins, D.2
Rouleau, G.A.3
Babul, R.4
Buchanan, J.A.5
Meschino, W.6
Der Kaloustian, V.M.7
-
71
-
-
0026503997
-
Human collagen gene COL5A1 maps to the q34.2-q34.3 region of chromosome 9, near the locus for nail-patella syndrome
-
Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S, Shows TB (1992) Human collagen gene COL5A1 maps to the q34.2-q34.3 region of chromosome 9, near the locus for nail-patella syndrome. Genomics 12: 836-837
-
(1992)
Genomics
, vol.12
, pp. 836-837
-
-
Greenspan, D.S.1
Byers, M.G.2
Eddy, R.L.3
Cheng, W.4
Jani-Sait, S.5
Shows, T.B.6
-
72
-
-
10544226936
-
Co-localization of COL5A1 with the nail-patella Socus on the long arm of chromosome 9. Proceedings of the annual EDTA-ERA Congress, Vienna
-
Caridi G, Ghiggeri M, Pezzolo A, Gimelli G, Gusmano R (1994) Co-localization of COL5A1 with the nail-patella Socus on the long arm of chromosome 9. Proceedings of the annual EDTA-ERA Congress, Vienna. Nephrol Dial Transplant 9: 949
-
(1994)
Nephrol Dial Transplant
, vol.9
, pp. 949
-
-
Caridi, G.1
Ghiggeri, M.2
Pezzolo, A.3
Gimelli, G.4
Gusmano, R.5
-
73
-
-
0027256491
-
Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?
-
Ghiggeri GM, Caridi G, Altieri P, Pezzolo A, Gimelli G, Zuffardi O (1993) Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus? Hum Genet 91: 175-177
-
(1993)
Hum Genet
, vol.91
, pp. 175-177
-
-
Ghiggeri, G.M.1
Caridi, G.2
Altieri, P.3
Pezzolo, A.4
Gimelli, G.5
Zuffardi, O.6
-
74
-
-
10544243427
-
COL5A1: Fine genetic mapping, intron/exon organization and exclusion as candidate gene in families with tuberous sclerosis complex I, hereditary hemorrhagic teleangiectasia, and Ehlers Danlos syndrome type II
-
Greenspan DS, Papenberg KA, Northrup H, Wenstrup R, Marchuk DA, Kwiatkowski DJ (1994) COL5A1: fine genetic mapping, intron/exon organization and exclusion as candidate gene in families with tuberous sclerosis complex I, hereditary hemorrhagic teleangiectasia, and Ehlers Danlos syndrome type II. Am J Hum Genet 55 [Suppl]: A132
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
-
-
Greenspan, D.S.1
Papenberg, K.A.2
Northrup, H.3
Wenstrup, R.4
Marchuk, D.A.5
Kwiatkowski, D.J.6
-
75
-
-
0015631642
-
Renal transplantation for the nail-patella syndrome
-
Uranga VM, Simmons RL, Hoyer JR, Kjellstrand CM, Buselmeier TJ, Najarian JS (1973) Renal transplantation for the nail-patella syndrome. Am J Surg 125: 777-779
-
(1973)
Am J Surg
, vol.125
, pp. 777-779
-
-
Uranga, V.M.1
Simmons, R.L.2
Hoyer, J.R.3
Kjellstrand, C.M.4
Buselmeier, T.J.5
Najarian, J.S.6
-
76
-
-
0023812961
-
Living-related renal transplantation in a patient with nail-patella syndrome
-
Chan PCK, Chan KW, Cheng IKP, Chan MK (1988) Living-related renal transplantation in a patient with nail-patella syndrome. Nephron 50: 164-166
-
(1988)
Nephron
, vol.50
, pp. 164-166
-
-
Chan, P.C.K.1
Chan, K.W.2
Cheng, I.K.P.3
Chan, M.K.4
-
77
-
-
0002986995
-
Nephrotic syndrome in the first year of live
-
Holliday MA, Barratt TM, Avner ED (eds) Williams and Wilkins, Baltimore
-
Mauch TJ, Vernier RL, Burke BA, Nevins TE (1994) Nephrotic syndrome in the first year of live. In: Holliday MA, Barratt TM, Avner ED (eds) Pediatric nephrology. Williams and Wilkins, Baltimore, pp 788-802
-
(1994)
Pediatric Nephrology
, pp. 788-802
-
-
Mauch, T.J.1
Vernier, R.L.2
Burke, B.A.3
Nevins, T.E.4
-
78
-
-
0027201852
-
Nephrotic syndrome in the 1st year of life
-
Habib R (1993) Nephrotic syndrome in the 1st year of life. Pediatr Nephrol 7: 347-353
-
(1993)
Pediatr Nephrol
, vol.7
, pp. 347-353
-
-
Habib, R.1
-
79
-
-
0028329864
-
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19
-
Kestilä M, Männikkö M, Holmberg C, Gyapay G, Seissenbach J, Savolainen ER, Peltonen L, Tryggvason K (1994) Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Human Genet 54: 757-764
-
(1994)
Am J Human Genet
, vol.54
, pp. 757-764
-
-
Kestilä, M.1
Männikkö, M.2
Holmberg, C.3
Gyapay, G.4
Seissenbach, J.5
Savolainen, E.R.6
Peltonen, L.7
Tryggvason, K.8
-
80
-
-
0028000397
-
Exclusion of eight genes as mutated loci in congenital nephrotic syndrome of the Finnish type
-
Kestilä M, Määniko M, Holmberg C, Korpela K, Savolainen ER, Peltonen L, Tryggvason K (1994) Exclusion of eight genes as mutated loci in congenital nephrotic syndrome of the Finnish type. Kidney Int 45: 986-990
-
(1994)
Kidney Int
, vol.45
, pp. 986-990
-
-
Kestilä, M.1
Määniko, M.2
Holmberg, C.3
Korpela, K.4
Savolainen, E.R.5
Peltonen, L.6
Tryggvason, K.7
-
81
-
-
0026505549
-
The glycosaminoglycan content of renal basement membranes in congenital nephrotic syndrome of the Finnish type
-
Heuvel L van, Born J van de, Jalanko H, Schröder CH, Veerkamp JH, Assmann KJM, Berden JHM, Holmberg C, Rapola J, Monnens LAH (1992) The glycosaminoglycan content of renal basement membranes in congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 6: 10-15
-
(1992)
Pediatr Nephrol
, vol.6
, pp. 10-15
-
-
Van Heuvel, L.1
Van de Born, J.2
Jalanko, H.3
Schröder, C.H.4
Veerkamp, J.H.5
Assmann, K.J.M.6
Berden, J.H.M.7
Holmberg, C.8
Rapola, J.9
Monnens, L.A.H.10
-
82
-
-
0027937122
-
Glycosaminoglycans in urine and amniotic fluid in congenital nephrotic syndrome of the Finnish type
-
Ljunberg P (1994) Glycosaminoglycans in urine and amniotic fluid in congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 8: 531-536
-
(1994)
Pediatr Nephrol
, vol.8
, pp. 531-536
-
-
Ljunberg, P.1
-
83
-
-
0027380212
-
Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type
-
Laine J, Jalanko H, Holhöfer H, Krogerus L, Rapola J, Von Willebrand E, Lautenschlager I, Salmela K, Holmberg C (1993) Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type. Kidney Int 44: 874-876
-
(1993)
Kidney Int
, vol.44
, pp. 874-876
-
-
Laine, J.1
Jalanko, H.2
Holhöfer, H.3
Krogerus, L.4
Rapola, J.5
Von Willebrand, E.6
Lautenschlager, I.7
Salmela, K.8
Holmberg, C.9
-
84
-
-
0028842315
-
Management of congenital nephrotic syndrome of the Finnish type
-
Holmberg C, Antikainen M, Rönnholm K, Ala-Howhala M, Jalanko H (1995) Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 9: 87-93
-
(1995)
Pediatr Nephrol
, vol.9
, pp. 87-93
-
-
Holmberg, C.1
Antikainen, M.2
Rönnholm, K.3
Ala-Howhala, M.4
Jalanko, H.5
-
85
-
-
0014119131
-
Association d'un syndrome anatomopathologique de pseudohermaphroditism masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosaicisme XX/XY
-
Denys P, Malvaux P, Van den Berghe H, Tanghe W, Proesmans W (1967) Association d'un syndrome anatomopathologique de pseudohermaphroditism masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosaicisme XX/XY. Arch Fr Pediatr 24: 729-739
-
(1967)
Arch Fr Pediatr
, vol.24
, pp. 729-739
-
-
Denys, P.1
Malvaux, P.2
Van den Berghe, H.3
Tanghe, W.4
Proesmans, W.5
-
86
-
-
0014775569
-
A syndrome of pseudohermaphroditism, Wilm's tumor, hypertension, and degenerative renal disease
-
Drash A, Sherman F, Hartmann WH, Blizzard RM (1970) A syndrome of pseudohermaphroditism, Wilm's tumor, hypertension, and degenerative renal disease. J Pediatr 76: 585-593
-
(1970)
J Pediatr
, vol.76
, pp. 585-593
-
-
Drash, A.1
Sherman, F.2
Hartmann, W.H.3
Blizzard, R.M.4
-
87
-
-
0026094584
-
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome
-
Pelletier J, Breuning W, Kashtan CE, Mauer M, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D (1991) Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67: 437-447
-
(1991)
Cell
, vol.67
, pp. 437-447
-
-
Pelletier, J.1
Breuning, W.2
Kashtan, C.E.3
Mauer, M.4
Manivel, J.C.5
Striegel, J.E.6
Houghton, D.C.7
Junien, C.8
Habib, R.9
Fouser, L.10
Fine, R.N.11
Silverman, B.L.12
Haber, D.A.13
Housman, D.14
-
88
-
-
0028337140
-
The Denys-Drash syndrome
-
Müller RF (1994) The Denys-Drash syndrome. J Med Genet 31: 471-477
-
(1994)
J Med Genet
, vol.31
, pp. 471-477
-
-
Müller, R.F.1
-
89
-
-
0027209712
-
The WT1 Wilms tumor gene product: A developmentally regulated transcription factor in the kidney that functions as a tumor suppressor
-
Rauscher FJ (1993) The WT1 Wilms tumor gene product: a developmentally regulated transcription factor in the kidney that functions as a tumor suppressor. FASEB J 7: 896-903
-
(1993)
FASEB J
, vol.7
, pp. 896-903
-
-
Rauscher, F.J.1
-
90
-
-
0027182741
-
WT-1 is required for early kidney development
-
Kreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Housman D, Jaenisch R (1993) WT-1 is required for early kidney development. Cell 74: 679-691
-
(1993)
Cell
, vol.74
, pp. 679-691
-
-
Kreidberg, J.A.1
Sariola, H.2
Loring, J.M.3
Maeda, M.4
Pelletier, J.5
Housman, D.6
Jaenisch, R.7
-
91
-
-
0025291908
-
The candidate Wilms' tumour gene is involved in genitourinary development
-
Pritchard Jones K, Fleming S, Davidson D, Bickmore W, Porteous D, Gosden C, Bard J, Buckler A, Pelletier JJ, Housman D, Van Heiningen V, Hastie N (1990) The candidate Wilms' tumour gene is involved in genitourinary development. Nature 346: 194-197
-
(1990)
Nature
, vol.346
, pp. 194-197
-
-
Pritchard Jones, K.1
Fleming, S.2
Davidson, D.3
Bickmore, W.4
Porteous, D.5
Gosden, C.6
Bard, J.7
Buckler, A.8
Pelletier, J.J.9
Housman, D.10
Van Heiningen, V.11
Hastie, N.12
-
92
-
-
0026864939
-
Germline intronic and exonic mutations in the Wilms tumour gene (WTI) affecting urogenital development
-
Bruening W, Bardeesy N, Silverman BL, Cohn RA, Machin GA, Aronson AJ, Housman D, Pelletier J (1992) Germline intronic and exonic mutations in the Wilms tumour gene (WTI) affecting urogenital development. Nature Genet 1: 144-148
-
(1992)
Nature Genet
, vol.1
, pp. 144-148
-
-
Bruening, W.1
Bardeesy, N.2
Silverman, B.L.3
Cohn, R.A.4
Machin, G.A.5
Aronson, A.J.6
Housman, D.7
Pelletier, J.8
-
93
-
-
0026457966
-
Inherited WT1 mutation in Denys-Drash syndrome
-
Coppes MJ, Liefers GJ, Higuchi M, Zinn AB, Balfe JW, Williams BRG (1993) Inherited WT1 mutation in Denys-Drash syndrome. Cancer Res 52: 6125-6128
-
(1993)
Cancer Res
, vol.52
, pp. 6125-6128
-
-
Coppes, M.J.1
Liefers, G.J.2
Higuchi, M.3
Zinn, A.B.4
Balfe, J.W.5
Williams, B.R.G.6
-
94
-
-
0027175810
-
Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion
-
Little MH, Williamson KA, Mannens M, Kelsey A, Gosden C, Hastie ND, Van Heiningen V (1993) Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. Hum Mol Genet 2: 259-264
-
(1993)
Hum Mol Genet
, vol.2
, pp. 259-264
-
-
Little, M.H.1
Williamson, K.A.2
Mannens, M.3
Kelsey, A.4
Gosden, C.5
Hastie, N.D.6
Van Heiningen, V.7
-
95
-
-
0026457966
-
Inherited WTI mutation in Denys-Drash syndrome
-
Coppes MJ, Liefers GJ, Higuchi M, Zinn AB, Balfe JW, Williams BRG (1993) Inherited WTI mutation in Denys-Drash syndrome. Cancer Res 52: 6125-6128
-
(1993)
Cancer Res
, vol.52
, pp. 6125-6128
-
-
Coppes, M.J.1
Liefers, G.J.2
Higuchi, M.3
Zinn, A.B.4
Balfe, J.W.5
Williams, B.R.G.6
-
96
-
-
0028926095
-
DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations
-
Little M, Holmes G, Bickmore W, Van Heijningen V, Hastie N, Wainwright B (1995) DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. Hum Mol Genet 4: 351-358
-
(1995)
Hum Mol Genet
, vol.4
, pp. 351-358
-
-
Little, M.1
Holmes, G.2
Bickmore, W.3
Van Heijningen, V.4
Hastie, N.5
Wainwright, B.6
-
97
-
-
0023470854
-
Structure and development of the glomerular capillary wall and basement membrane
-
Abrahamson DR (1987) Structure and development of the glomerular capillary wall and basement membrane. Am J Physiol 253: 783-794
-
(1987)
Am J Physiol
, vol.253
, pp. 783-794
-
-
Abrahamson, D.R.1
-
98
-
-
0029558712
-
Aberrant proteoglycan composition of the glomerular basement membrane in a patient with Denys-Drash syndrome
-
Van den Heuvel LPWJ, Westenend PJ, Van den Born J, Assmann KJM, Knoers N, Monnens LAH (1995) Aberrant proteoglycan composition of the glomerular basement membrane in a patient with Denys-Drash syndrome. Nephrol Dial Transplant 10: 2205-2211
-
(1995)
Nephrol Dial Transplant
, vol.10
, pp. 2205-2211
-
-
Van den Heuvel, L.P.W.J.1
Westenend, P.J.2
Van den Born, J.3
Assmann, K.J.M.4
Knoers, N.5
Monnens, L.A.H.6
-
99
-
-
0028266957
-
Kidney in Galloway-Mowat syndrome: Clinical spectrum with description of pathology
-
Cohen AH, Turner MC (1994) Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. Kidney Int 45: 1407-1415
-
(1994)
Kidney Int
, vol.45
, pp. 1407-1415
-
-
Cohen, A.H.1
Turner, M.C.2
-
100
-
-
0025230924
-
Nephrosis in two infants with infantile sialic acid storage disease
-
Sperl W, Gruber W, Quatacker J, Monnens L, Thoenes W, Fink F, Paschke E (1990) Nephrosis in two infants with infantile sialic acid storage disease. Eur J Paediatr 149: 477-482
-
(1990)
Eur J Paediatr
, vol.149
, pp. 477-482
-
-
Sperl, W.1
Gruber, W.2
Quatacker, J.3
Monnens, L.4
Thoenes, W.5
Fink, F.6
Paschke, E.7
-
101
-
-
0028792063
-
Mapping a gene to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis
-
Fuchshuber A, Jean G, Gribouval O, Gubler MC, Broyer M, Beckmann JS, Niaudet P, Anttgnac C (1995) Mapping a gene to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis Hum Mol Genet 11: 2155-2158
-
(1995)
Hum Mol Genet
, vol.11
, pp. 2155-2158
-
-
Fuchshuber, A.1
Jean, G.2
Gribouval, O.3
Gubler, M.C.4
Broyer, M.5
Beckmann, J.S.6
Niaudet, P.7
Anttgnac, C.8
|