-
3
-
-
0023784316
-
Benign familial hematuria
-
Yoshikawa N, Matsuyama S, Iijima K, Maehara K, Okada S, Matsuo T: Benign familial hematuria. Arch Pathol Lab Med 1988;112: 794-797.
-
(1988)
Arch Pathol Lab Med
, vol.112
, pp. 794-797
-
-
Yoshikawa, N.1
Matsuyama, S.2
Iijima, K.3
Maehara, K.4
Okada, S.5
Matsuo, T.6
-
4
-
-
0016200996
-
The non-specificity of the ultrastructural alterations in hereditary nephritis
-
Hill GS, Jenis EH, Goodloe JJ: The non-specificity of the ultrastructural alterations in hereditary nephritis. Lab Invest 1974;31:516-532.
-
(1974)
Lab Invest
, vol.31
, pp. 516-532
-
-
Hill, G.S.1
Jenis, E.H.2
Goodloe, J.J.3
-
5
-
-
0025292712
-
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
-
Barker DF, Hostikka SL, Zhou J, et al: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990;248: 1224-1227.
-
(1990)
Science
, vol.248
, pp. 1224-1227
-
-
Barker, D.F.1
Hostikka, S.L.2
Zhou, J.3
-
6
-
-
0029931071
-
X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene
-
Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M: X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet 1996;58:1192-1204.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1192-1204
-
-
Renieri, A.1
Bruttini, M.2
Galli, L.3
Zanelli, P.4
Neri, T.5
Rossetti, S.6
Turco, A.7
Heiskari, N.8
Zhou, J.9
Gusmano, R.10
Massella, L.11
Banfi, G.12
Scolari, F.13
Sessa, A.14
Rizzoni, G.15
Tryggvason, K.16
Pignatti, P.F.17
Savi, M.18
Ballabio, A.19
De Marchi, M.20
more..
-
7
-
-
0028069132
-
Mutations in the type IV collagen a3(COL4A3) gene in autosomal recessive Alport syndrome
-
Lemmink HH, Mochizuki T, van den Heuvel LP, Schroder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ: Mutations in the type IV collagen a3(COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 1994;3:1269-1273.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1269-1273
-
-
Lemmink, H.H.1
Mochizuki, T.2
Van Den Heuvel, L.P.3
Schroder, C.H.4
Barrientos, A.5
Monnens, L.A.6
Van Oost, B.A.7
Brunner, H.G.8
Reeders, S.T.9
Smeets, H.J.10
-
8
-
-
0028168648
-
Identification of mutations in the a3(IV) and a4(IV) collagen genes in autosomal recessive Alport syndrome
-
Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schroder CH, Smeets HJ, et al: Identification of mutations in the a3(IV) and a4(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
Antignac, C.4
Gubler, M.C.5
Pirson, Y.6
Verellen-Dumoulin, C.7
Chan, B.8
Schroder, C.H.9
Smeets, H.J.10
-
9
-
-
0029738295
-
Benign familial hematuria due to mutation of the type IV collagen a4 gene
-
Lemmink HH, Nillesen WN, Mochizuki T, Schroder CH, Brunner HG, van Oost BA, Monnens LA, Smeets HJ: Benign familial hematuria due to mutation of the type IV collagen a4 gene. J Clin Invest 1996;98:1114-1118.
-
(1996)
J Clin Invest
, vol.98
, pp. 1114-1118
-
-
Lemmink, H.H.1
Nillesen, W.N.2
Mochizuki, T.3
Schroder, C.H.4
Brunner, H.G.5
Van Oost, B.A.6
Monnens, L.A.7
Smeets, H.J.8
-
10
-
-
0004136246
-
-
Cold Spring Harbor, Cold Spring Harbor Laboratory Press
-
Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning, ed 2. Cold Spring Harbor, Cold Spring Harbor Laboratory Press, 1989.
-
(1989)
Molecular Cloning, Ed 2
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
11
-
-
84944443401
-
Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22
-
Barker D, Cleverly J, Fain PR: Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22. Nucl Acid Res 1992;20:929.
-
(1992)
Nucl Acid Res
, vol.20
, pp. 929
-
-
Barker, D.1
Cleverly, J.2
Fain, P.R.3
-
12
-
-
0028820675
-
Isolation and structure of the COL4A6 gene encoding the human a6(IV) collagen chain and comparison with other type IV collagen genes
-
Oohashi T, Ueki Y, Sugimoto M, Ninomiya Y: Isolation and structure of the COL4A6 gene encoding the human a6(IV) collagen chain and comparison with other type IV collagen genes. J Biol Chem 1995;270:26863-26867.
-
(1995)
J Biol Chem
, vol.270
, pp. 26863-26867
-
-
Oohashi, T.1
Ueki, Y.2
Sugimoto, M.3
Ninomiya, Y.4
-
13
-
-
0024582686
-
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
-
Weber JL, May PE: Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 388-396
-
-
Weber, J.L.1
May, P.E.2
-
15
-
-
0018690204
-
Benign familial haematuria in children from the Jewish communities of Israel: Clinical and genetic studies
-
Eisenstein B, Stark H, Goodman RM: Benign familial haematuria in children from the Jewish communities of Israel: Clinical and genetic studies. J Med Genet 1979;16:369-372.
-
(1979)
J Med Genet
, vol.16
, pp. 369-372
-
-
Eisenstein, B.1
Stark, H.2
Goodman, R.M.3
-
16
-
-
0029060924
-
Autosomal recessive Alport syndrome: Mutation in the COL4A3 gene in woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis
-
Ding J, Stitzel J, Berri P, Hawkins E, Kashtan CE: Autosomal recessive Alport syndrome: Mutation in the COL4A3 gene in woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. J Am Soc Nephrol 1995;5:1714-1717.
-
(1995)
J Am Soc Nephrol
, vol.5
, pp. 1714-1717
-
-
Ding, J.1
Stitzel, J.2
Berri, P.3
Hawkins, E.4
Kashtan, C.E.5
-
17
-
-
84981583896
-
No linkage to COL4A3 gene locus in Japanese thin basement membrane disease families
-
Yamazaki H, Nakagawa Y, Saito A, Nishi S, Sakatsume M, Takeda T, Marujama Y, Ogino S, Maruyama S, Mokizuki T, Reeders ST, Arakawa M: No linkage to COL4A3 gene locus in Japanese thin basement membrane disease families. Nephrology 1995;1:315-321.
-
(1995)
Nephrology
, vol.1
, pp. 315-321
-
-
Yamazaki, H.1
Nakagawa, Y.2
Saito, A.3
Nishi, S.4
Sakatsume, M.5
Takeda, T.6
Marujama, Y.7
Ogino, S.8
Maruyama, S.9
Mokizuki, T.10
Reeders, S.T.11
Arakawa, M.12
-
18
-
-
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: Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. Hum Mol Genet 1995;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
-
19
-
-
0027535453
-
A large duplication in the gene for lysyl hydroxilase accounts for type VI variant of Ehlers-Danlos syndrome in two siblings
-
Hautala T, Heikkinen J, Kivirikko KI, Myllyla R: A large duplication in the gene for lysyl hydroxilase accounts for type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics 1993;15:399-404.
-
(1993)
Genomics
, vol.15
, pp. 399-404
-
-
Hautala, T.1
Heikkinen, J.2
Kivirikko, K.I.3
Myllyla, R.4
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