-
1
-
-
84965236793
-
Hereditary familial congenital haemorrhagic nephritis
-
ALPORT AC: Hereditary familial congenital haemorrhagic nephritis. Br Med J 1:504-506, 1927
-
(1927)
Br Med J
, vol.1
, pp. 504-506
-
-
Alport, A.C.1
-
2
-
-
0000023099
-
Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes
-
SHEFFIELD VC, COX DR, LERMAN LS, MYERS RM: Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 86:232-236, 1989
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 232-236
-
-
Sheffield, V.C.1
Cox, D.R.2
Lerman, L.S.3
Myers, R.M.4
-
3
-
-
0026807035
-
Use of denaturing gradient gel electrophoresis to study conformational transitions in nucleic acids
-
ABRAMS ES, STANTON VP: Use of denaturing gradient gel electrophoresis to study conformational transitions in nucleic acids. Meth Enzymol 212:71-104, 1992
-
(1992)
Meth Enzymol
, vol.212
, pp. 71-104
-
-
Abrams, E.S.1
Stanton, V.P.2
-
4
-
-
0025820639
-
Molecular characterization of severe hemophilia a suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene
-
HIGUCHI M, KAZAZIAN HH, KASCH L, WARRENTC, MCGINNISS MJ, PHILLIPS JA, KASPER C: Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc Natl Acad Sci USA 88:7405-7409, 1991
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 7405-7409
-
-
Higuchi, M.1
Kazazian, H.H.2
Kasch, L.3
Warrentc4
Mcginniss, M.J.5
Phillips, J.A.6
Kasper, C.7
-
5
-
-
0027399672
-
Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping
-
COSTES B, GIRODON E, GHANEM N, CHASSIGNOL M, THUONG NT, DUPRET D, GOOSSENS M: Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping. Hum Mol Genet 2:393-397, 1993
-
(1993)
Hum Mol Genet
, vol.2
, pp. 393-397
-
-
Costes, B.1
Girodon, E.2
Ghanem, N.3
Chassignol, M.4
Thuong, N.T.5
Dupret, D.6
Goossens, M.7
-
6
-
-
0026494787
-
Deletions of the COL4A5 gene in patients with Alport syndrome
-
NETZER KO, RENDERS L, ZHOU J, PULLING O, TRYGGVASON K, WEBER M: Deletions of the COL4A5 gene in patients with Alport syndrome. Kidney Int 42:1336-1344, 1992
-
(1992)
Kidney Int
, vol.42
, pp. 1336-1344
-
-
Netzer, K.O.1
Renders, L.2
Zhou, J.3
Pulling, O.4
Tryggvason, K.5
Weber, M.6
-
7
-
-
0027247587
-
COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome
-
NETZER KO, PULLIG O, FREI U, ZHOU J, TRYGGVASON K, WEBER M: COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome. Kidney Int 43:486-492, 1993
-
(1993)
Kidney Int
, vol.43
, pp. 486-492
-
-
Netzer, K.O.1
Pullig, O.2
Frei, U.3
Zhou, J.4
Tryggvason, K.5
Weber, M.6
-
8
-
-
0024650815
-
Localization of the gene for classic Alport's syndrome
-
FLINTER FA, ABBS S, BOBROW M: Localization of the gene for classic Alport's syndrome. Genomics 4:335-338, 1989
-
(1989)
Genomics
, vol.4
, pp. 335-338
-
-
Flinter, F.A.1
Abbs, S.2
Bobrow, M.3
-
9
-
-
0026063744
-
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome
-
ZHOU J, BARKER DF, HOSTIKKA SL, GREGORY MC, ATKIN CL, TRYGGVASON K: Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. Genomics 9:10-18, 1991
-
(1991)
Genomics
, vol.9
, pp. 10-18
-
-
Zhou, J.1
Barker, D.F.2
Hostikka, S.L.3
Gregory, M.C.4
Atkin, C.L.5
Tryggvason, K.6
-
10
-
-
0002204298
-
Alport syndrome
-
edited by SCHRIER RW, GOTTSCHALK CW, Boston. Little, Brown and Co.
-
ATKIN CL, GREGORY MC, BORDER WA: Alport syndrome, in Diseases of the Kidney, edited by SCHRIER RW, GOTTSCHALK CW, Boston. Little, Brown and Co., 1988, pp 617-641
-
(1988)
Diseases of the Kidney
, pp. 617-641
-
-
Atkin, C.L.1
Gregory, M.C.2
Border, W.A.3
-
11
-
-
0027232076
-
A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome
-
NOMURA S, OSAWA G, SAI T, HARANO T, HARANO K: A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome. Kidney Int 43:1116-1124, 1993
-
(1993)
Kidney Int
, vol.43
, pp. 1116-1124
-
-
Nomura, S.1
Osawa, G.2
Sai, T.3
Harano, T.4
Harano, K.5
-
12
-
-
1842353216
-
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
-
KUNKEL LM, SMITH KD, BOYER SH, BORGAONKAR DS, WACHTEL SS, MILLER OJ, BREG WR: Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245-1248, 1977
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 1245-1248
-
-
Kunkel, L.M.1
Smith, K.D.2
Boyer, S.H.3
Borgaonkar, D.S.4
Wachtel, S.S.5
Miller, O.J.6
Breg, W.R.7
-
13
-
-
0025236724
-
Photo crosslinking of psoralen-derivatized oligonucleoside methylphosphonates to single-stranded DNA
-
BHAN P, MILLER PS: Photo crosslinking of psoralen-derivatized oligonucleoside methylphosphonates to single-stranded DNA. Bioconjug Chem 1:82-88, 1990
-
(1990)
Bioconjug Chem
, vol.1
, pp. 82-88
-
-
Bhan, P.1
Miller, P.S.2
-
14
-
-
0025292712
-
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
-
BARKER DF, HOSTIKKA SL, ZHOU J, CHOW LT, OLIPHANT AR, GERKEN SC, GREGORY MC, SKOLNICK MH, ATKIN CL, TRYGGVASON K: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224-1227, 1990
-
(1990)
Science
, vol.248
, pp. 1224-1227
-
-
Barker, D.F.1
Hostikka, S.L.2
Zhou, J.3
Chow, L.T.4
Oliphant, A.R.5
Gerken, S.C.6
Gregory, M.C.7
Skolnick, M.H.8
Atkin, C.L.9
Tryggvason, K.10
-
15
-
-
0026331422
-
Major rearrangements in the alpha 5(IV) gene in three patients with Alport syndrome
-
BOYE E, VETRIE D, FLINTER F, BUCKL B, PIHLAJANIEMI T, HAMALAINEN ER, MYERS JC: Major rearrangements in the alpha 5(IV) gene in three patients with Alport syndrome. Genomics 11:1125-1132, 1991
-
(1991)
Genomics
, vol.11
, pp. 1125-1132
-
-
Boye, E.1
Vetrie, D.2
Flinter, F.3
Buckl, B.4
Pihlajaniemi, T.5
Hamalainen, E.R.6
Myers, J.C.7
-
16
-
-
0026592147
-
DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: Further refinement using pulsed-field gel electrophoresis
-
VETRIE D, BOYE E, FLINTER F, BOBROW M, HARRIS A: DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: Further refinement using pulsed-field gel electrophoresis. Genomics 14:624-633, 1992
-
(1992)
Genomics
, vol.14
, pp. 624-633
-
-
Vetrie, D.1
Boye, E.2
Flinter, F.3
Bobrow, M.4
Harris, A.5
-
17
-
-
0026663364
-
Mutations in the COL4A5 collagen gene leading to different types of Alport syndrome
-
SMEETS HJM, MELENHORST JJ, LEMMINK HH, SCHRÖDER CH, NELEN MR, ZHOU J, BRUNNER HG: Mutations in the COL4A5 collagen gene leading to different types of Alport syndrome. Kidney Int 42:83-88, 1992
-
(1992)
Kidney Int
, vol.42
, pp. 83-88
-
-
Smeets, H.J.M.1
Melenhorst, J.J.2
Lemmink, H.H.3
Schröder, C.H.4
Nelen, M.R.5
Zhou, J.6
Brunner, H.G.7
|