-
1
-
-
0008550291
-
Maturity-onset diabetes of the young
-
Hattersley AT: Maturity-onset diabetes of the young. Balliere Clin Paediatr 4:663-680, 1996
-
(1996)
Balliere Clin Paediatr
, vol.4
, pp. 663-680
-
-
Hattersley, A.T.1
-
2
-
-
10544249874
-
Mutations in the hepatic nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3)
-
Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Pedersen O, Polonsky KS, Turner RC, Velho G, Chevre J-C, Froguel P, Bell GI: Mutations in the hepatic nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 384:455-458, 1996
-
(1996)
Nature
, vol.384
, pp. 455-458
-
-
Yamagata, K.1
Oda, N.2
Kaisaki, P.J.3
Menzel, S.4
Furuta, H.5
Vaxillaire, M.6
Southam, L.7
Cox, R.D.8
Lathrop, G.M.9
Boriraj, V.V.10
Chen, X.11
Cox, N.J.12
Oda, Y.13
Yano, H.14
Le Beau, M.M.15
Yamada, S.16
Nishigori, H.17
Takeda, J.18
Fajans, S.S.19
Hattersley, A.T.20
Iwasaki, N.21
Pedersen, O.22
Polonsky, K.S.23
Turner, R.C.24
Velho, G.25
Chevre, J.-C.26
Froguel, P.27
Bell, G.I.28
more..
-
3
-
-
14444278300
-
Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the U.K.
-
Frayling T, Bulman MP, Ellard S, Appleton M, Dronsfield MJ, Mackie ADR, Baird JD, Kaisaki PJ, Yamagata K, Bell GI, Bain SC, Hattersley AT: Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 46:720-725, 1997
-
(1997)
Diabetes
, vol.46
, pp. 720-725
-
-
Frayling, T.1
Bulman, M.P.2
Ellard, S.3
Appleton, M.4
Dronsfield, M.J.5
Mackie, A.D.R.6
Baird, J.D.7
Kaisaki, P.J.8
Yamagata, K.9
Bell, G.I.10
Bain, S.C.11
Hattersley, A.T.12
-
4
-
-
15144351715
-
Mutations in the hepatocyte nuclear factor-1α gene in MODY and early-onset NIDDM: Evidence for a mutational hotspot in exon 4
-
Kaisaki PJ, Menzel S, Lindner T, Oda N, Rjasanowski I, Sahm J, Meincke G, Schulze J, Schmechel H, Petzold C, Ledermann HM, Sachse G, Boriraj VV, Menzel R, Kerner W, Turner RC, Yamagata K, Bell GI: Mutations in the hepatocyte nuclear factor-1α gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes 45:528-535, 1997
-
(1997)
Diabetes
, vol.45
, pp. 528-535
-
-
Kaisaki, P.J.1
Menzel, S.2
Lindner, T.3
Oda, N.4
Rjasanowski, I.5
Sahm, J.6
Meincke, G.7
Schulze, J.8
Schmechel, H.9
Petzold, C.10
Ledermann, H.M.11
Sachse, G.12
Boriraj, V.V.13
Menzel, R.14
Kerner, W.15
Turner, R.C.16
Yamagata, K.17
Bell, G.I.18
-
5
-
-
8244219694
-
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha genp associated with maturity onset diabetes of the young (MODY3)
-
Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV, Chevre J-C, Boccio V, Cox RD, Lathrop M, Dussoix P, Philippe J, Timsit J, Charpentier G, Velho G, Bell GI, Froguel P: Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha genp associated with maturity onset diabetes of the young (MODY3). Human Molecular Genetics 6:583-586, 1997
-
(1997)
Human Molecular Genetics
, vol.6
, pp. 583-586
-
-
Vaxillaire, M.1
Rouard, M.2
Yamagata, K.3
Oda, N.4
Kaisaki, P.J.5
Boriraj, V.V.6
Chevre, J.-C.7
Boccio, V.8
Cox, R.D.9
Lathrop, M.10
Dussoix, P.11
Philippe, J.12
Timsit, J.13
Charpentier, G.14
Velho, G.15
Bell, G.I.16
Froguel, P.17
-
6
-
-
15444352146
-
Novel MODY3 mutations in the hepatic nuclear factor-1α gene: Evidence for a hyperexcitability of pancreatic β-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation
-
Hansen T, Eiberg H, Rouard M, Vaxillaire M, Møller AM, Rasmussen SK, Fridberg M, Urhammer SA, Holst JJ, Almind K, Echwalk SM, Hansen L, Bell GI, Pedersen O: Novel MODY3 mutations in the hepatic nuclear factor-1α gene: evidence for a hyperexcitability of pancreatic β-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. Diabetes 46:726-730, 1997
-
(1997)
Diabetes
, vol.46
, pp. 726-730
-
-
Hansen, T.1
Eiberg, H.2
Rouard, M.3
Vaxillaire, M.4
Møller, A.M.5
Rasmussen, S.K.6
Fridberg, M.7
Urhammer, S.A.8
Holst, J.J.9
Almind, K.10
Echwalk, S.M.11
Hansen, L.12
Bell, G.I.13
Pedersen, O.14
-
7
-
-
15444341853
-
Mutations in the hepatocyte nuclear factor-1α/MODY3 gene in Japanese subjects with early- and late-onset NIDDM
-
Iwasaki N, Oda N, Ogata M, Hara M, Hinokio Y, Oda Y, Yamagata K, Kanematsu S, Ohgawara H, Omori Y, Bell GI: Mutations in the hepatocyte nuclear factor-1α/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes 46:1504-1508, 1997
-
(1997)
Diabetes
, vol.46
, pp. 1504-1508
-
-
Iwasaki, N.1
Oda, N.2
Ogata, M.3
Hara, M.4
Hinokio, Y.5
Oda, Y.6
Yamagata, K.7
Kanematsu, S.8
Ohgawara, H.9
Omori, Y.10
Bell, G.I.11
-
8
-
-
0031007206
-
Novel mutations and a mutational hotspot in the MODY3 gene
-
Glucksmann MA, Lehto M, Tayber O, Scotti S, Berkemeier L, Pulido JC, Wu Y, Nir W-J, Fang L, Markel P, Munnelly KD, Goranson J, Orho M, Young BM, Whitacre JL, McMenimen C, Wantman M, Tuimi T, Warram J, Forsblom CM, Carlsson M, Rosenzweig J, Kennedy G, Duyk GM, Krolewski AS, Groop LC, Thomas JD: Novel mutations and a mutational hotspot in the MODY3 gene. Diabetes 40:1081-1086, 1997
-
(1997)
Diabetes
, vol.40
, pp. 1081-1086
-
-
Glucksmann, M.A.1
Lehto, M.2
Tayber, O.3
Scotti, S.4
Berkemeier, L.5
Pulido, J.C.6
Wu, Y.7
Nir, W.-J.8
Fang, L.9
Markel, P.10
Munnelly, K.D.11
Goranson, J.12
Orho, M.13
Young, B.M.14
Whitacre, J.L.15
McMenimen, C.16
Wantman, M.17
Tuimi, T.18
Warram, J.19
Forsblom, C.M.20
Carlsson, M.21
Rosenzweig, J.22
Kennedy, G.23
Duyk, G.M.24
Krolewski, A.S.25
Groop, L.C.26
Thomas, J.D.27
more..
-
9
-
-
0030780380
-
An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1α gene (maturity-onset diabetes of the young)
-
Boutin P, Chevre JC, Hani EH, Gomis R, Pardini VC, Guillausseau PJ, Vaxillaire M, Velho G, Froguel P: An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1α gene (maturity-onset diabetes of the young). Diabetes 46:2108-2109, 1997
-
(1997)
Diabetes
, vol.46
, pp. 2108-2109
-
-
Boutin, P.1
Chevre, J.C.2
Hani, E.H.3
Gomis, R.4
Pardini, V.C.5
Guillausseau, P.J.6
Vaxillaire, M.7
Velho, G.8
Froguel, P.9
-
11
-
-
0026608764
-
Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus
-
Froguel P, Vaxillaire M, Sun F, Velho G, Zouali H, Butel MO, Lesage S, Vionnet N, Clement K, Fougerousse F, Tanizawa Y, Weissenbach J, Beckman JS, Lathrop GM, Passa P, Permutt MA, Cohen D: Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 356:162-164, 1992
-
(1992)
Nature
, vol.356
, pp. 162-164
-
-
Froguel, P.1
Vaxillaire, M.2
Sun, F.3
Velho, G.4
Zouali, H.5
Butel, M.O.6
Lesage, S.7
Vionnet, N.8
Clement, K.9
Fougerousse, F.10
Tanizawa, Y.11
Weissenbach, J.12
Beckman, J.S.13
Lathrop, G.M.14
Passa, P.15
Permutt, M.A.16
Cohen, D.17
-
12
-
-
0026583193
-
Linkage of type 2 diabetes to the glucokinase gene
-
Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S, Watkins PJ, Wainscoat JS: Linkage of type 2 diabetes to the glucokinase gene. Lancet 339:1307-1310, 1992
-
(1992)
Lancet
, vol.339
, pp. 1307-1310
-
-
Hattersley, A.T.1
Turner, R.C.2
Permutt, M.A.3
Patel, P.4
Tanizawa, Y.5
Chiu, K.C.6
O'Rahilly, S.7
Watkins, P.J.8
Wainscoat, J.S.9
-
13
-
-
10544236911
-
Mutations in the hepatocyte nuclear factor 4 alpha gene in maturity-onset diabetes of the young (MODY1)
-
Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI: Mutations in the hepatocyte nuclear factor 4 alpha gene in maturity-onset diabetes of the young (MODY1). Nature 384:458-460, 1996
-
(1996)
Nature
, vol.384
, pp. 458-460
-
-
Yamagata, K.1
Furuta, H.2
Oda, N.3
Kaisaki, P.J.4
Menzel, S.5
Cox, N.J.6
Fajans, S.S.7
Signorini, S.8
Stoffel, M.9
Bell, G.I.10
-
14
-
-
0030850883
-
A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young
-
Bulman M, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S, Hattersley AT: A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. Diabetologia 40:859-863, 1997
-
(1997)
Diabetologia
, vol.40
, pp. 859-863
-
-
Bulman, M.1
Dronsfield, M.J.2
Frayling, T.3
Appleton, M.4
Bain, S.C.5
Ellard, S.6
Hattersley, A.T.7
-
15
-
-
0030779004
-
Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4α/MODY1 gene
-
Lindner T, Gragnoli C, Furuta H, Cockburn BN, Petzold C, Rietzsch H, Weib U, Schulze J, Bell GI: Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4α/MODY1 gene. J Clin Invest 100:1400-1405, 1997
-
(1997)
J Clin Invest
, vol.100
, pp. 1400-1405
-
-
Lindner, T.1
Gragnoli, C.2
Furuta, H.3
Cockburn, B.N.4
Petzold, C.5
Rietzsch, H.6
Weib, U.7
Schulze, J.8
Bell, G.I.9
-
16
-
-
0031253820
-
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1
-
Staffers DA, Ferrer J, Clarke WL, Habener JF: Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet 17:138-139, 1997
-
(1997)
Nat Genet
, vol.17
, pp. 138-139
-
-
Staffers, D.A.1
Ferrer, J.2
Clarke, W.L.3
Habener, J.F.4
-
17
-
-
0031453186
-
Mutation in hepatocyte nuclear fartor-1b gene (TCF2) associated with MODY
-
Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn B, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahar T, Iwamoto Y, Bell GI: Mutation in hepatocyte nuclear fartor-1b gene (TCF2) associated with MODY. Nat Genet 17:384-385, 1997
-
(1997)
Nat Genet
, vol.17
, pp. 384-385
-
-
Horikawa, Y.1
Iwasaki, N.2
Hara, M.3
Furuta, H.4
Hinokio, Y.5
Cockburn, B.6
Lindner, T.7
Yamagata, K.8
Ogata, M.9
Tomonaga, O.10
Kuroki, H.11
Kasahar, T.12
Iwamoto, Y.13
Bell, G.I.14
-
18
-
-
0031848798
-
Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1β gene associated with diabetes and renal dysfunction
-
Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, Bell GI, Takeuchi T, Takeda J: Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1β gene associated with diabetes and renal dysfunction. Diabetes 47:1354-1355, 1998
-
(1998)
Diabetes
, vol.47
, pp. 1354-1355
-
-
Nishigori, H.1
Yamada, S.2
Kohama, T.3
Tomura, H.4
Sho, K.5
Horikawa, Y.6
Bell, G.I.7
Takeuchi, T.8
Takeda, J.9
-
19
-
-
0028907342
-
A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
-
Vaxillaire M, Boccio V, Philippi A, Vigouroux C, Terwilliger J, Passa P, Beckman JS, Velho G, Lathrop GM, Froguel P: A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. Nat Genet 9:418-423, 1995
-
(1995)
Nat Genet
, vol.9
, pp. 418-423
-
-
Vaxillaire, M.1
Boccio, V.2
Philippi, A.3
Vigouroux, C.4
Terwilliger, J.5
Passa, P.6
Beckman, J.S.7
Velho, G.8
Lathrop, G.M.9
Froguel, P.10
-
20
-
-
0345559513
-
Linkage of the gene for maturity-onset diabetes of the young (MODY) with markers on the long arm of chromosome 12
-
Dronsfield MJ, Tack CJJ, Bain SC, Hattersley AT: Linkage of the gene for maturity-onset diabetes of the young (MODY) with markers on the long arm of chromosome 12 (Abstract). Diabetologia 38:229, 1995
-
(1995)
Diabetologia
, vol.38
, pp. 229
-
-
Dronsfield, M.J.1
Tack, C.J.J.2
Bain, S.C.3
Hattersley, A.T.4
-
21
-
-
0026670282
-
A rapid chemiluminescent method for quantitation of human DNA
-
Walsh PS, Varlaro J, Reynolds R: A rapid chemiluminescent method for quantitation of human DNA. Nucleic Acids Res 20:5061-5065, 1992
-
(1992)
Nucleic Acids Res
, vol.20
, pp. 5061-5065
-
-
Walsh, P.S.1
Varlaro, J.2
Reynolds, R.3
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