-
1
-
-
0020785378
-
Leiomiomatosis del esófago, traqueobronquial y genital asociada con nefropatía hereditaria tipo alport: Un nuevo síndrome
-
Garcia-Torres R, Guarner V. Leiomiomatosis del esófago, traqueobronquial y genital asociada con nefropatía hereditaria tipo Alport: Un nuevo síndrome. Rev Gastroenterol Mex 1983 ; 48 : 163-70.
-
(1983)
Rev Gastroenterol Mex
, vol.48
, pp. 163-170
-
-
Garcia-Torres, R.1
Guarner, V.2
-
2
-
-
0027426224
-
Alport-Leiomyomatosis syndrome: An update
-
Garcia-Torres R, Orozco L. Alport-Leiomyomatosis syndrome: An update. Am J Kidney Dis 1993 ; 22 : 641-8.
-
(1993)
Am J Kidney Dis
, vol.22
, pp. 641-648
-
-
Garcia-Torres, R.1
Orozco, L.2
-
4
-
-
0030966113
-
Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult age
-
Van Loo A, Vanholder R, Buytaert I, De Paepe A, Praet M, Elewaut A, Lameire N. Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult age. Nephrol Dial Transplant 1997 ; 12 : 776-80.
-
(1997)
Nephrol Dial Transplant
, vol.12
, pp. 776-780
-
-
Van Loo, A.1
Vanholder, R.2
Buytaert, I.3
De Paepe, A.4
Praet, M.5
Elewaut, A.6
Lameire, N.7
-
5
-
-
0032200404
-
Diffuse leiomyomatosis of the esophagus : Disorder of cell-matrix interaction?
-
Thorner P. Heidet L, Moreno Merlo F, Vern E, Antignac C, Gubler MC. Diffuse leiomyomatosis of the esophagus : Disorder of cell-matrix interaction? Pediatr Devel Pathol 1998 ; 1 : 543-9.
-
(1998)
Pediatr Devel Pathol
, vol.1
, pp. 543-549
-
-
Thorner, P.1
Heidet, L.2
Moreno Merlo, F.3
Vern, E.4
Antignac, C.5
Gubler, M.C.6
-
6
-
-
0028804288
-
Smooth muscle tumors associated with X linked alport syndrome: Carrier detection in females
-
Dahan K, Heidet L, Zhou J, Mettler G, Leppig KA, Proesmans W, David A, Roussel B, Mongeau JG, Gould JMD, Grünfeld JP, Gubler MC, Antignac C. Smooth muscle tumors associated with X linked Alport syndrome: Carrier detection in females. Kidney Int 1995 ; 48: 1900-6.
-
(1995)
Kidney Int
, vol.48
, pp. 1900-1906
-
-
Dahan, K.1
Heidet, L.2
Zhou, J.3
Mettler, G.4
Leppig, K.A.5
Proesmans, W.6
David, A.7
Roussel, B.8
Mongeau, J.G.9
Gould, J.M.D.10
Grünfeld, J.P.11
Gubler, M.C.12
Antignac, C.13
-
7
-
-
0031039618
-
Syndrome d'Alport, une maladie héréditaire du collagéne de type IV
-
Heidet L, Forestier L, Antignac C, Gubler MC. Syndrome d'Alport, une maladie héréditaire du collagéne de type IV. M/S 1997 ; 13 : 28-36.
-
(1997)
M/S
, vol.13
, pp. 28-36
-
-
Heidet, L.1
Forestier, L.2
Antignac, C.3
Gubler, M.C.4
-
8
-
-
0024442303
-
Distribution of familial nephritis antigen in normal tissue and renal basement membranes of patients with homozygous and heterozygous Alport familial nephritis and goodpasture antigen to novel collagen chains and type IV collagen
-
Kleppel M, Kashtan CE, Santi PA, Wieslander J, Michael AF. Distribution of familial nephritis antigen in normal tissue and renal basement membranes of patients with homozygous and heterozygous Alport familial nephritis and goodpasture antigen to novel collagen chains and type IV collagen. Lab Invest 1989 ; 61 : 279-89.
-
(1989)
Lab Invest
, vol.61
, pp. 279-289
-
-
Kleppel, M.1
Kashtan, C.E.2
Santi, P.A.3
Wieslander, J.4
Michael, A.F.5
-
9
-
-
0002196858
-
Alport's syndrome, thin basement membrane nephropathy, nail patella syndrome, and type III collagen glomerulopathy
-
edited by JC Jennette, JL Olson, MM Schwartz and FG Silva. Philadelphia : Lippincott-Raven Publishers
-
Gubler MC, Heidet L, Antignac C. Alport's syndrome, thin basement membrane nephropathy, nail patella syndrome, and type III collagen glomerulopathy. In Heptinstall's Pathology of the Kidney, 5th ed. edited by JC Jennette, JL Olson, MM Schwartz and FG Silva. Philadelphia : Lippincott-Raven Publishers, 1998 ; 1207-30.
-
(1998)
Heptinstall's Pathology of the Kidney, 5th Ed.
, pp. 1207-1230
-
-
Gubler, M.C.1
Heidet, L.2
Antignac, C.3
-
10
-
-
0029690028
-
Immunohistologic findings in Alport syndrome
-
Tryggvason K,(ed).
-
Kashtan CE, Kleppel MM, Gubler MC. Immunohistologic findings in Alport syndrome. In Tryggvason K,(ed). Molecular pathology and genetics of Alport syndrome. Contrib Nephrol. Basel: Karger, 1996 ; 117 : 142-53.
-
(1996)
Molecular Pathology and Genetics of Alport Syndrome. Contrib Nephrol. Basel: Karger
, vol.117
, pp. 142-153
-
-
Kashtan, C.E.1
Kleppel, M.M.2
Gubler, M.C.3
-
11
-
-
0029098578
-
Differential expression of two basement membrane collagen genes COL4A5 and COL4A6, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies
-
Ninomiya Y, Kagawa M, Iyama K, Naito I, Kishiro Y, Seyer JM, Sugimoto M, Oohashi T, Sado Y. Differential expression of two basement membrane collagen genes COL4A5 and COL4A6, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies. J Cell Biol 1995 ; 130 : 1219-29.
-
(1995)
J Cell Biol
, vol.130
, pp. 1219-1229
-
-
Ninomiya, Y.1
Kagawa, M.2
Iyama, K.3
Naito, I.4
Kishiro, Y.5
Seyer, J.M.6
Sugimoto, M.7
Oohashi, T.8
Sado, Y.9
-
13
-
-
19244363372
-
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome
-
Knebelman B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschênes G, Grünfeld JP, Broyer M, Gubler MC, Antignac C. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am J Hum Genet 1996 ; 59 : 1227-32.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1227-1232
-
-
Knebelman, B.1
Breillat, C.2
Forestier, L.3
Arrondel, C.4
Jacassier, D.5
Giatras, I.6
Drouot, L.7
Deschênes, G.8
Grünfeld, J.P.9
Broyer, M.10
Gubler, M.C.11
Antignac, C.12
-
14
-
-
0026792994
-
Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene
-
Antignac C, Zhou J, Sanak M, Cochat P, Roussel B, Deschenes G, Gros F, Knebelmann B, Hors-Cayla MC, Tryggvason K. Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene. Kidney Int 1992 ; 42 : 1178-83.
-
(1992)
Kidney Int
, vol.42
, pp. 1178-1183
-
-
Antignac, C.1
Zhou, J.2
Sanak, M.3
Cochat, P.4
Roussel, B.5
Deschenes, G.6
Gros, F.7
Knebelmann, B.8
Hors-Cayla, M.C.9
Tryggvason, K.10
-
15
-
-
0027485643
-
Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors
-
Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, De Paepe A, Tryggvason K, Reeders ST. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Science 1993; 261 : 1167-9.
-
(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
-
16
-
-
0028981590
-
Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumors
-
Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JDM, Leppig KA, Proesmans W, Guyot C, Guillot M, Roussel B, Tryggvason K, Grünfeld JP, Gubler MC, Antignac C. Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumors. 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
Xu, Z.4
Cochat, P.5
Gould, J.D.M.6
Leppig, K.A.7
Proesmans, W.8
Guyot, C.9
Guillot, M.10
Roussel, B.11
Tryggvason, K.12
Grünfeld, J.P.13
Gubler, M.C.14
Antignac, C.15
-
17
-
-
0031446109
-
Novel COL4A5/ COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL.AS) locus define the DL critical region
-
Heidet L, Cohen-Sola L, Boye E, Thorner P, Kemper MJ, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler MC, Antignac C. Novel COL4A5/ COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL.AS) locus define the DL critical region. Cytogenet Cell Genet 1997 ; 78 : 240-6.
-
(1997)
Cytogenet Cell Genet
, vol.78
, pp. 240-246
-
-
Heidet, L.1
Cohen-Sola, L.2
Boye, E.3
Thorner, P.4
Kemper, M.J.5
David, A.6
Larget Piet, L.7
Zhou, J.8
Flinter, F.9
Zhang, X.10
Gubler, M.C.11
Antignac, C.12
-
18
-
-
0033361022
-
LINE-1 elements at the sites of molecular rearrangements in Alport syndromediffuse leiomyomatosis
-
Segal Y, Peissel B, Renieri A, De Marchi M, Ballabio A, Pei Y, Zhou J. LINE-1 elements at the sites of molecular rearrangements in Alport syndromediffuse leiomyomatosis. Am J Hum Genet 1999 ; 64 : 62-9.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 62-69
-
-
Segal, Y.1
Peissel, B.2
Renieri, A.3
De Marchi, M.4
Ballabio, A.5
Pei, Y.6
Zhou, J.7
-
19
-
-
0031056918
-
Diffuse leiomyomatosis associated with X-linked Alport syndrome : Extracellular matrix study using immunohistochemistry and in situ hybridization
-
Heidet L, Cai Y, Sado Y, Ninomiya Y, Thorner P, Guicharnau L, Boye E, Chauvet V, Solal LC, Beziau A, Garcia-Torres R, Antignac C, Gubler MC. Diffuse leiomyomatosis associated with X-linked Alport syndrome : Extracellular matrix study using immunohistochemistry and in situ hybridization. Lab Invest 1997 ; 76 : 233-43.
-
(1997)
Lab Invest
, vol.76
, pp. 233-243
-
-
Heidet, L.1
Cai, Y.2
Sado, Y.3
Ninomiya, Y.4
Thorner, P.5
Guicharnau, L.6
Boye, E.7
Chauvet, V.8
Solal, L.C.9
Beziau, A.10
Garcia-Torres, R.11
Antignac, C.12
Gubler, M.C.13
-
20
-
-
0031935861
-
Somatic deletion of the 5′ ends of both the COL4A5 and COL4A6 genes in sporadic leiomyoma of the esophagus
-
Heidet L, Boye E, Cai Y, Zhang X, Flejou JF, Fekete F, Ninomiya Y, Gubler MC, Antignac C. Somatic Deletion of the 5′ ends of both the COL4A5 and COL4A6 genes in sporadic leiomyoma of the esophagus. Am J Pathol 1998 ; 152 : 673-8.
-
(1998)
Am J Pathol
, vol.152
, pp. 673-678
-
-
Heidet, L.1
Boye, E.2
Cai, Y.3
Zhang, X.4
Flejou, J.F.5
Fekete, F.6
Ninomiya, Y.7
Gubler, M.C.8
Antignac, C.9
-
21
-
-
0026740928
-
Distribution of the alpha 1 and alpha 2 chains of collagen IV and of collagen V and VI in Alport Syndrome
-
Kashtan CE, Kim Y. Distribution of the alpha 1 and alpha 2 chains of collagen IV and of collagen V and VI in Alport Syndrome. Kidney Int 1992 ; 42 : 115-26.
-
(1992)
Kidney Int
, vol.42
, pp. 115-126
-
-
Kashtan, C.E.1
Kim, Y.2
-
22
-
-
0030838424
-
Ultrastructural immunocytochemistry of collagenous and non-collagenous proteins in fast frozen, freeze substituted, and low temperature embedded renal tissue in alport syndrome
-
Muda AO, Rahimi S, Renieri A, Rizzoni G, Massella L, Faraggiana T. Ultrastructural immunocytochemistry of collagenous and non-collagenous proteins in fast frozen, freeze substituted, and low temperature embedded renal tissue in Alport syndrome. J Pathol 1997 ; 182 : 465-74.
-
(1997)
J Pathol
, vol.182
, pp. 465-474
-
-
Muda, A.O.1
Rahimi, S.2
Renieri, A.3
Rizzoni, G.4
Massella, L.5
Faraggiana, T.6
-
23
-
-
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, Gros F, Deschênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M, Gubler MC. 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
Gros, F.4
Deschênes, G.5
Hors-Cayla, M.C.6
Zhou, J.7
Tryggvason, K.8
Grünfeld, J.P.9
Broyer, M.10
Gubler, M.C.11
-
24
-
-
0029787566
-
Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport Syndrome. Japanese Alport Network
-
Naito I, Kawai S, Nomura S, Sado Y, Osawa G. Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport Syndrome. Japanese Alport Network. Kidney Int 1996 ; 50 : 304-11.
-
(1996)
Kidney Int
, vol.50
, pp. 304-311
-
-
Naito, I.1
Kawai, S.2
Nomura, S.3
Sado, Y.4
Osawa, G.5
-
25
-
-
0031747294
-
Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations
-
Mazzucco G, Barsotti P, Muda AO, Fortunato M, Mihatsch M, Torri-Tarelli L, Renieri A, Faraggiana T, De Marchi M, Monga G. Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations. J Am Soc Nephrol 1998 ; 9 : 1023-31.
-
(1998)
J Am Soc Nephrol
, vol.9
, pp. 1023-1031
-
-
Mazzucco, G.1
Barsotti, P.2
Muda, A.O.3
Fortunato, M.4
Mihatsch, M.5
Torri-Tarelli, L.6
Renieri, A.7
Faraggiana, T.8
De Marchi, M.9
Monga, G.10
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