-
1
-
-
0033058487
-
Molecular genetics of maturity-onset diabetes of the young
-
Froguel P, Velho G. Molecular genetics of maturity-onset diabetes of the young. Trends Endocrinol Metab 1999; 10: 142-146.
-
(1999)
Trends Endocrinol Metab
, vol.10
, pp. 142-146
-
-
Froguel, P.1
Velho, G.2
-
2
-
-
0035960122
-
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
-
Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001; 345: 971-980.
-
(2001)
N Engl J Med
, vol.345
, pp. 971-980
-
-
Fajans, S.S.1
Bell, G.I.2
Polonsky, K.S.3
-
4
-
-
0027472126
-
Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus
-
Froguel P, Zonali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P, Permutt MA, Beckmann JS, Bell GI, Cohen D. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 1993; 328: 697-702.
-
(1993)
N Engl J Med
, vol.328
, pp. 697-702
-
-
Froguel, P.1
Zonali, H.2
Vionnet, N.3
Velho, G.4
Vaxillaire, M.5
Sun, F.6
Lesage, S.7
Stoffel, M.8
Takeda, J.9
Passa, P.10
Permutt, M.A.11
Beckmann, J.S.12
Bell, G.I.13
Cohen, D.14
-
5
-
-
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 1996; 384: 458-460.
-
(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
-
6
-
-
10544249874
-
Mutations in the hepatocyte 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, Hansen T, Pedersen O, Polonsky KS, Bell GI. Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996; 384: 455-458.
-
(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
Hansen, T.22
Pedersen, O.23
Polonsky, K.S.24
Bell, G.I.25
more..
-
8
-
-
0031453186
-
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY
-
Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 1997; 17: 384-385.
-
(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.N.6
Lindner, T.7
Yamagata, K.8
Ogata, M.9
Tomonaga, O.10
Kuroki, H.11
Kasahara, T.12
Iwamoto, Y.13
Bell, G.I.14
-
9
-
-
0032700272
-
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus
-
Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saed M, Warram JH, Montminy M, Krolewski AS. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 1999; 23: 323-328.
-
(1999)
Nat Genet
, vol.23
, pp. 323-328
-
-
Malecki, M.T.1
Jhala, U.S.2
Antonellis, A.3
Fields, L.4
Doria, A.5
Orban, T.6
Saed, M.7
Warram, J.H.8
Montminy, M.9
Krolewski, A.S.10
-
10
-
-
29444440400
-
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
-
Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjorkhaug L, Sagen JV, Aksnes L, Sovik O, Lombardo D, Molven A, Njolstad PR. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet 2006; 38: 54-62.
-
(2006)
Nat Genet
, vol.38
, pp. 54-62
-
-
Raeder, H.1
Johansson, S.2
Holm, P.I.3
Haldorsen, I.S.4
Mas, E.5
Sbarra, V.6
Nermoen, I.7
Eide, S.A.8
Grevle, L.9
Bjorkhaug, L.10
Sagen, J.V.11
Aksnes, L.12
Sovik, O.13
Lombardo, D.14
Molven, A.15
Njolstad, P.R.16
-
12
-
-
17544403804
-
Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families
-
Costa A, Bescos M, Velho G, Chevre J, Vidal J, Sesmilo G, Bellanne-Chantelot C, Froguel P, Casamitjana R, Rivera-Fillat F, Gomis R, Conget I. Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. Eur J Endocrinol 2000; 142: 380-386.
-
(2000)
Eur J Endocrinol
, vol.142
, pp. 380-386
-
-
Costa, A.1
Bescos, M.2
Velho, G.3
Chevre, J.4
Vidal, J.5
Sesmilo, G.6
Bellanne-Chantelot, C.7
Froguel, P.8
Casamitjana, R.9
Rivera-Fillat, F.10
Gomis, R.11
Conget, I.12
-
13
-
-
0037300839
-
Genetic epidemiology of MODY in the Czech republic: New mutations in the MODY genes HNF-4 alpha, GCK and HNF-1 alpha
-
Pruhova S, Ek J, Lebl J, Sumnik Z, Saudek F, Andel M, Pedersen O, Hansen T. Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4 alpha, GCK and HNF-1 alpha. Diabetologia 2003; 46:291-295.
-
(2003)
Diabetologia
, vol.46
, pp. 291-295
-
-
Pruhova, S.1
Ek, J.2
Lebl, J.3
Sumnik, Z.4
Saudek, F.5
Andel, M.6
Pedersen, O.7
Hansen, T.8
-
14
-
-
0034771385
-
Early-onset type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor I alpha and glucokinase
-
Gragnoli C, Cockburn BN, Chiaramonte F, Gorini A, Marietti G, Marozzi G, Signorini AM. Early-onset type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor I alpha and glucokinase. Diabetologia 2001; 44: 1326-1329.
-
(2001)
Diabetologia
, vol.44
, pp. 1326-1329
-
-
Gragnoli, C.1
Cockburn, B.N.2
Chiaramonte, F.3
Gorini, A.4
Marietti, G.5
Marozzi, G.6
Signorini, A.M.7
-
15
-
-
0035122282
-
Beta-cell genes and diabetes: Molecular and clinical characterization of mutations in transcription factors
-
Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, Hattersley AT. Beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 2001; 50 (Suppl 1): S94-S100.
-
(2001)
Diabetes
, vol.50
, Issue.SUPPL. 1
-
-
Frayling, T.M.1
Evans, J.C.2
Bulman, M.P.3
Pearson, E.4
Allen, L.5
Owen, K.6
Bingham, C.7
Hannemann, M.8
Shepherd, M.9
Ellard, S.10
Hattersley, A.T.11
-
16
-
-
0036075535
-
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families
-
Barrio R, Bellanne-Chantelot C, Moreno JC, Morel V, Calle H, Alonso M, Mustieles C. Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. J Clin Endocrinol Metab 2002; 87: 2532-2539.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 2532-2539
-
-
Barrio, R.1
Bellanne-Chantelot, C.2
Moreno, J.C.3
Morel, V.4
Calle, H.5
Alonso, M.6
Mustieles, C.7
-
17
-
-
0035122350
-
Beta-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1 alpha and glucokinase mutations
-
Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT. Beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1 alpha and glucokinase mutations. Diabetes 2001; 50 (Suppl 1): S101-S107.
-
(2001)
Diabetes
, vol.50
, Issue.SUPPL. 1
-
-
Pearson, E.R.1
Velho, G.2
Clark, P.3
Stride, A.4
Shepherd, M.5
Frayling, T.M.6
Bulman, M.P.7
Ellard, S.8
Froguel, P.9
Hattersley, A.T.10
-
18
-
-
0036895595
-
Decreased glibenclamide uptake in hepatocytes of hepatocyte nuclear factor-1-alpha-deficient mice: A mechanism for hypersensitivity to sulfonylurea therapy in patients with maturity-onset diabetes of the young, type 3 (MODY3)
-
Boileau P, Boileau P, Wolfrum C, Shih DQ, Yang TA, Wolkoff AW, Stoffel M. Decreased glibenclamide uptake in hepatocytes of hepatocyte nuclear factor-1-alpha-deficient mice: a mechanism for hypersensitivity to sulfonylurea therapy in patients with maturity-onset diabetes of the young, type 3 (MODY3). Diabetes 2002; 51 (Suppl 3): S343-S358.
-
(2002)
Diabetes
, vol.51
, Issue.SUPPL. 3
-
-
Boileau, P.1
Boileau, P.2
Wolfrum, C.3
Shih, D.Q.4
Yang, T.A.5
Wolkoff, A.W.6
Stoffel, M.7
-
19
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
20
-
-
0022422690
-
Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis
-
Myers RM, Fischer SG, Maniatis T, Lerman LS. Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis. Nucleic Acids Res 1985; 13: 3111-3129.
-
(1985)
Nucleic Acids Res
, vol.13
, pp. 3111-3129
-
-
Myers, R.M.1
Fischer, S.G.2
Maniatis, T.3
Lerman, L.S.4
-
21
-
-
0036004550
-
A novel mutation in PIT-l: Phenotypic variability in familial combined pituitary hormone deficiency
-
Gat-Yablonski G, Lazar L, Pertzelan A, Phillip M. A novel mutation in PIT-l: phenotypic variability in familial combined pituitary hormone deficiency. J Pediatr Endocrinol Metab 2002; 15: 325-331.
-
(2002)
J Pediatr Endocrinol Metab
, vol.15
, pp. 325-331
-
-
Gat-Yablonski, G.1
Lazar, L.2
Pertzelan, A.3
Phillip, M.4
-
22
-
-
14444278300
-
Mutations in the hepatocyte nuclear factor-1 alpha gene are a common cause of maturity-onset diabetes of the young in the U.K
-
Frayling TM, Bulman MP, Ellard S, Appleton M, Dronsfield MJ, Mackie AD, Baird JD, Kaisaki PJ, Yamagata K, Bell GI, Bain SC, Hattersley AT. Mutations in the hepatocyte nuclear factor-1 alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 1997; 46: 720-725.
-
(1997)
Diabetes
, vol.46
, pp. 720-725
-
-
Frayling, T.M.1
Bulman, M.P.2
Ellard, S.3
Appleton, M.4
Dronsfield, M.J.5
Mackie, A.D.6
Baird, J.D.7
Kaisaki, P.J.8
Yamagata, K.9
Bell, G.I.10
Bain, S.C.11
Hattersley, A.T.12
-
23
-
-
0034947265
-
-
Massa O, Meschi F, Cuesta-Munoz A, Caumo A, Cerutti F, Toni S, Cherubini V, Guazzarotti L, Sulli N, Matschinsky FM, Lorini R, Iafusco D, Barbetti F; Italian Society of Paediatic Endocrinology and Diabetes (SIEDP). High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP). Diabetologia 2001; 44: 898-905.
-
Massa O, Meschi F, Cuesta-Munoz A, Caumo A, Cerutti F, Toni S, Cherubini V, Guazzarotti L, Sulli N, Matschinsky FM, Lorini R, Iafusco D, Barbetti F; Italian Society of Paediatic Endocrinology and Diabetes (SIEDP). High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP). Diabetologia 2001; 44: 898-905.
-
-
-
-
24
-
-
8044260804
-
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
-
Velho G, Blanche H, Vaxillaire M, Bellanne-Chantelot C, Pardini VC, Timsit J, Passa P, Deschamps I, Robert JJ, Weber IT, Marotta D, Pilkis SJ, Lipkind GM, Bell GI, Froguel P. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 1997; 40: 217-224.
-
(1997)
Diabetologia
, vol.40
, pp. 217-224
-
-
Velho, G.1
Blanche, H.2
Vaxillaire, M.3
Bellanne-Chantelot, C.4
Pardini, V.C.5
Timsit, J.6
Passa, P.7
Deschamps, I.8
Robert, J.J.9
Weber, I.T.10
Marotta, D.11
Pilkis, S.J.12
Lipkind, G.M.13
Bell, G.I.14
Froguel, P.15
-
25
-
-
23844518966
-
Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1
-
Johansen A, EK J, Mortensen HB, Pedersen O, Hansen T. Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1. J Clin Endocrinol Metab 2005; 90: 4607-4614.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 4607-4614
-
-
Johansen, A.1
EK, J.2
Mortensen, H.B.3
Pedersen, O.4
Hansen, T.5
-
26
-
-
2542496085
-
Structural basis for HNF-4 alpha activation by ligand and coactivator binding
-
Duds K, Chi YI, Shoelson SE. Structural basis for HNF-4 alpha activation by ligand and coactivator binding. J Biol Chem 2004; 279: 23311-23316.
-
(2004)
J Biol Chem
, vol.279
, pp. 23311-23316
-
-
Duds, K.1
Chi, Y.I.2
Shoelson, S.E.3
-
27
-
-
0026639928
-
Human glucokinase gene: Isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus
-
Stoffel M, Froguel P, Takeds J, Zouali H, Vionnet N. Nishi S, Weber IT, Harrison RW, Pilkis SJ, Lesage S, Vaxillaire M, Velho G, Sun F, Iris F, Passa P, Cohen D, Bell GI. Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. Proc Natl Acad Sci USA 1992; 89: 7698-7702.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 7698-7702
-
-
Stoffel, M.1
Froguel, P.2
Takeds, J.3
Zouali, H.4
Vionnet, N.5
Nishi, S.6
Weber, I.T.7
Harrison, R.W.8
Pilkis, S.J.9
Lesage, S.10
Vaxillaire, M.11
Velho, G.12
Sun, F.13
Iris, F.14
Passa, P.15
Cohen, D.16
Bell, G.I.17
-
28
-
-
0036884903
-
GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY)
-
Cao H, Shorey S, Robinson J, Metzger DL, Stewart L, Cummings E, Hegele RA. GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Hum Mutat 2002; 20: 478-479.
-
(2002)
Hum Mutat
, vol.20
, pp. 478-479
-
-
Cao, H.1
Shorey, S.2
Robinson, J.3
Metzger, D.L.4
Stewart, L.5
Cummings, E.6
Hegele, R.A.7
-
29
-
-
0032792499
-
Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): Different glucokinase defects lead to a common phenotype
-
Miller SP, Anand GR, Karscnia EJ, Bell GI, LaPorte DC, Lange AJ. Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype. Diabetes 1999; 48: 1645-1651.
-
(1999)
Diabetes
, vol.48
, pp. 1645-1651
-
-
Miller, S.P.1
Anand, G.R.2
Karscnia, E.J.3
Bell, G.I.4
LaPorte, D.C.5
Lange, A.J.6
-
30
-
-
0036862511
-
Diabetes mutations delineate an atypical POU domain in HNF-1alpha
-
Chi YI, Frantz JD, Oh BC, Hansen L, Dha-Paganon S, Shoelson SE. Diabetes mutations delineate an atypical POU domain in HNF-1alpha. Mol Cell 2002; 10: 1129-1137.
-
(2002)
Mol Cell
, vol.10
, pp. 1129-1137
-
-
Chi, Y.I.1
Frantz, J.D.2
Oh, B.C.3
Hansen, L.4
Dha-Paganon, S.5
Shoelson, S.E.6
-
31
-
-
0036460039
-
High frequency of mutations in the HNF-1 alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance
-
Tonooka N, Tomura H, Takahashi Y, Onigata K, Kikuchi N, Horikawa Y, Mori M, Takeda J. High frequency of mutations in the HNF-1 alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance. Diabetologia 2002; 45: 1709-1712.
-
(2002)
Diabetologia
, vol.45
, pp. 1709-1712
-
-
Tonooka, N.1
Tomura, H.2
Takahashi, Y.3
Onigata, K.4
Kikuchi, N.5
Horikawa, Y.6
Mori, M.7
Takeda, J.8
-
32
-
-
0033752712
-
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young
-
Ellard S. Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum Mutat 2000; 16: 377-385.
-
(2000)
Hum Mutat
, vol.16
, pp. 377-385
-
-
Ellard, S.1
-
33
-
-
0031848797
-
Mutation P291 fsinsC in the transcription factor hepatocyte nuclear factor-1 alpha is dominant negative
-
Yamagata K, Yang Q, Yamamoto K, Iwahashi H, Miyagawa J, Okita K, Yoshiuchi I, Miyazaki J, Noguchi T, Nakajima H, Namha M, Hanafusa T, Matsuzawa Y. Mutation P291 fsinsC in the transcription factor hepatocyte nuclear factor-1 alpha is dominant negative. Diabetes 1998; 47: 1231-1235.
-
(1998)
Diabetes
, vol.47
, pp. 1231-1235
-
-
Yamagata, K.1
Yang, Q.2
Yamamoto, K.3
Iwahashi, H.4
Miyagawa, J.5
Okita, K.6
Yoshiuchi, I.7
Miyazaki, J.8
Noguchi, T.9
Nakajima, H.10
Namha, M.11
Hanafusa, T.12
Matsuzawa, Y.13
-
34
-
-
15144347575
-
Mutation greening in 18 Caucasian families suggest the existence of other MODY genes
-
Chevre JC, Hani EH, Boutin P, Vaxillaire M, Blanche H, Vionnet N, Pardini VC, Timsit J, Larger E, Charpentier G, Beckers D, Maes M, Bellanne-Chantelot C, Velho G, Froguel P. Mutation greening in 18 Caucasian families suggest the existence of other MODY genes. Diabetologia 1998; 41: 1017-1023.
-
(1998)
Diabetologia
, vol.41
, pp. 1017-1023
-
-
Chevre, J.C.1
Hani, E.H.2
Boutin, P.3
Vaxillaire, M.4
Blanche, H.5
Vionnet, N.6
Pardini, V.C.7
Timsit, J.8
Larger, E.9
Charpentier, G.10
Beckers, D.11
Maes, M.12
Bellanne-Chantelot, C.13
Velho, G.14
Froguel, P.15
-
35
-
-
8244219694
-
Identification of nine novel mutations in the hapatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3)
-
Vaxillaire M, Rouard M, Yamagata K, Ode N, Kaisaki PJ, Boriraj VV, Chevre JC, Boccio V, Cox RD, Lathrop GM, Dussoix P, Philippe J, Timsit J, Charpentier G, Velho G, Bell GI, Froguel P. Identification of nine novel mutations in the hapatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet 1997; 6: 583-586.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 583-586
-
-
Vaxillaire, M.1
Rouard, M.2
Yamagata, K.3
Ode, N.4
Kaisaki, P.J.5
Boriraj, V.V.6
Chevre, J.C.7
Boccio, V.8
Cox, R.D.9
Lathrop, G.M.10
Dussoix, P.11
Philippe, J.12
Timsit, J.13
Charpentier, G.14
Velho, G.15
Bell, G.I.16
Froguel, P.17
-
36
-
-
15444352146
-
Novel MODY3 mutations in the hepatocyte nuclear factor-1 alpha gene: Evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation
-
Hansen T, Eiberg H, Rouard M, Vaxillaire M, Moller AM, Rasmussen SK, Fridberg M, Urhammer SA, Holst JJ, Almind K, Echwald SM, Hansen L, Bell GI, Pedersen O. Novel MODY3 mutations in the hepatocyte nuclear factor-1 alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. Diabetes 1997; 46: 726-730.
-
(1997)
Diabetes
, vol.46
, pp. 726-730
-
-
Hansen, T.1
Eiberg, H.2
Rouard, M.3
Vaxillaire, M.4
Moller, A.M.5
Rasmussen, S.K.6
Fridberg, M.7
Urhammer, S.A.8
Holst, J.J.9
Almind, K.10
Echwald, S.M.11
Hansen, L.12
Bell, G.I.13
Pedersen, O.14
-
37
-
-
0031732687
-
The effect of two frequent amino acid variants of the hepetocyte nuclenr factor-1 alpha gene on estimates of the pancreatic beta-cell function in Caucasian glucosetolerant first-degree relatives of type 2 diabetic patients
-
Urhammer SA, Moller AM, Nyholm B, Ekstrom CT, Eiberg H, Clausen JO, Hansen T, Pedersen O, Schmitz O. The effect of two frequent amino acid variants of the hepetocyte nuclenr factor-1 alpha gene on estimates of the pancreatic beta-cell function in Caucasian glucosetolerant first-degree relatives of type 2 diabetic patients. J Clin Endocrinol Metab 1998; 83: 3992-3995.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3992-3995
-
-
Urhammer, S.A.1
Moller, A.M.2
Nyholm, B.3
Ekstrom, C.T.4
Eiberg, H.5
Clausen, J.O.6
Hansen, T.7
Pedersen, O.8
Schmitz, O.9
-
38
-
-
0034457994
-
The I27L amino acid polymorphism of hepatic nuclear factor-1-alpha is associated with insulin resistance
-
Chiu KC, Chuang LM, Ryu, JM, Tsai GP, Saad MF. The I27L amino acid polymorphism of hepatic nuclear factor-1-alpha is associated with insulin resistance. J Clin Endocrinol Metab 2000; 85: 2178-2183.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 2178-2183
-
-
Chiu, K.C.1
Chuang, L.M.2
Ryu, J.M.3
Tsai, G.P.4
Saad, M.F.5
-
39
-
-
0030943465
-
A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1alpha gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge
-
Urhammer SA, Fridberg M, Hansen T, Rasmussen SK, Moller AM, Clausen JO, Pedersen O. A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1alpha gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge. Diabetes 1997; 46: 912-916.
-
(1997)
Diabetes
, vol.46
, pp. 912-916
-
-
Urhammer, S.A.1
Fridberg, M.2
Hansen, T.3
Rasmussen, S.K.4
Moller, A.M.5
Clausen, J.O.6
Pedersen, O.7
|