-
1
-
-
0031453186
-
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY
-
Horikawa Y, Iwasaki N, Hara M et al. 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
-
2
-
-
84857501013
-
TCF2 (HNF-1β) and MODY5 and Urogenital Malformations
-
Epstein CJ, Erickson RP, Wynshaw-Boris A eds. 2nd edn. New York: Oxford University Press
-
Søvik O, Sagen JV, Njølstad PR. TCF2 (HNF-1β) and MODY5 and Urogenital Malformations. In: Epstein CJ, Erickson RP, Wynshaw-Boris A eds. Inborn Errors of Development. 2nd edn. New York: Oxford University Press, 2008.
-
(2008)
Inborn Errors of Development.
-
-
Søvik, O.1
Sagen, J.V.2
Njølstad, P.R.3
-
3
-
-
8344272048
-
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta
-
Bingham C, Hattersley AT. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. Nephrol Dial Transplant 2004: 19: 2703-2708.
-
(2004)
Nephrol Dial Transplant
, vol.19
, pp. 2703-2708
-
-
Bingham, C.1
Hattersley, A.T.2
-
4
-
-
12144286598
-
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations
-
Bellanne-Chantelot C, Chauveau D, Gautier JF et al. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 2004: 140: 510-517.
-
(2004)
Ann Intern Med
, vol.140
, pp. 510-517
-
-
Bellanne-Chantelot, C.1
Chauveau, D.2
Gautier, J.F.3
-
5
-
-
49649105254
-
Lack of pancreatic body and tail in HNF1B mutation carriers
-
Haldorsen IS, Vesterhus M, Raeder H et al. Lack of pancreatic body and tail in HNF1B mutation carriers. Diabet Med 2008: 25: 782-787.
-
(2008)
Diabet Med
, vol.25
, pp. 782-787
-
-
Haldorsen, I.S.1
Vesterhus, M.2
Raeder, H.3
-
6
-
-
29444440400
-
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
-
Raeder H, Johansson S, Holm PI et al. 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
-
7
-
-
0041931070
-
Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers
-
Sagen JV, Bostad L, Njølstad PR, Søvik O. Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers. Kidney Int 2003: 64: 793-800.
-
(2003)
Kidney Int
, vol.64
, pp. 793-800
-
-
Sagen, J.V.1
Bostad, L.2
Njølstad, P.R.3
Søvik, O.4
-
8
-
-
0032836391
-
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β
-
Linder TH, Njølstad PR, Horikawa Y, Bostad L, Bell GI, Søvik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β. Hum Mol Genet 1999: 8: 2001-2008.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2001-2008
-
-
Linder, T.H.1
Njølstad, P.R.2
Horikawa, Y.3
Bostad, L.4
Bell, G.I.5
Søvik, O.6
-
9
-
-
0036881382
-
Contributions to the MODY5 phenotype.
-
Søvik O, Sagen J, Njølstad PR, Nyland H, Myhr KM. Contributions to the MODY5 phenotype. J Inher Metab Dis 2002: 25: 597-598.
-
(2002)
J Inher Metab Dis
, vol.25
, pp. 597-598
-
-
Søvik, O.1
Sagen, J.2
Njølstad, P.R.3
Nyland, H.4
Myhr, K.M.5
-
10
-
-
4644260056
-
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy
-
Sagen JV, Raeder H, Hathout E et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004: 53: 2713-2718.
-
(2004)
Diabetes
, vol.53
, pp. 2713-2718
-
-
Sagen, J.V.1
Raeder, H.2
Hathout, E.3
-
11
-
-
33746686369
-
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
-
Pearson ER, Flechtner I, Njølstad PR et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006: 355: 467-477.
-
(2006)
N Engl J Med
, vol.355
, pp. 467-477
-
-
Pearson, E.R.1
Flechtner, I.2
Njølstad, P.R.3
-
12
-
-
0142186278
-
Genetic cause of hyperglycaemia and response to treatment in diabetes
-
Pearson ER, Starkey BJ, Powell RJ et al. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 2003: 362: 1275-1281.
-
(2003)
Lancet
, vol.362
, pp. 1275-1281
-
-
Pearson, E.R.1
Starkey, B.J.2
Powell, R.J.3
-
13
-
-
2342472176
-
Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1 alpha and -1 beta mutations
-
Pearson ER, Badman MK, Lockwood CR et al. Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1 alpha and -1 beta mutations. Diabetes Care 2004: 27: 1102-1107.
-
(2004)
Diabetes Care
, vol.27
, pp. 1102-1107
-
-
Pearson, E.R.1
Badman, M.K.2
Lockwood, C.R.3
-
14
-
-
38949096076
-
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young Type 3
-
Vesterhus M, Raeder H, Johansson S, Molven A, Njølstad PR. Pancreatic exocrine dysfunction in maturity-onset diabetes of the young Type 3. Diabetes Care 2008: 31: 306-310.
-
(2008)
Diabetes Care
, vol.31
, pp. 306-310
-
-
Vesterhus, M.1
Raeder, H.2
Johansson, S.3
Molven, A.4
Njølstad, P.R.5
-
15
-
-
51649101105
-
Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young
-
Vesterhus M, Haldorsen IS, Raeder H, Molven A, Njølstad PR. Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. J Clin Endocrinol Metab 2008: 93: 3505-3509.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 3505-3509
-
-
Vesterhus, M.1
Haldorsen, I.S.2
Raeder, H.3
Molven, A.4
Njølstad, P.R.5
-
16
-
-
33847307418
-
Neonatal choletatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1β gene
-
Beckers D, Bellanne-Chantelot C, Maes M. Neonatal choletatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1β gene. J Pediatr 2007: 150: 313-314.
-
(2007)
J Pediatr
, vol.150
, pp. 313-314
-
-
Beckers, D.1
Bellanne-Chantelot, C.2
Maes, M.3
-
17
-
-
67650230055
-
Expanded clinical spectrum in hepatocyte nuclear factor-1β-maturity-onset diabetes of the young
-
Raile K, Klopocki E, Holder M et al. Expanded clinical spectrum in hepatocyte nuclear factor-1β-maturity-onset diabetes of the young. J Clin Endocrinol Metab 2009: 94: 2658-2664.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 2658-2664
-
-
Raile, K.1
Klopocki, E.2
Holder, M.3
-
18
-
-
30744476739
-
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes
-
Edghill EL, Bingham C, Ellard S, Hattersley AT. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 2006: 43: 84-90.
-
(2006)
J Med Genet
, vol.43
, pp. 84-90
-
-
Edghill, E.L.1
Bingham, C.2
Ellard, S.3
Hattersley, A.T.4
-
19
-
-
38749110087
-
Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene
-
Mayer C, Böttcher Y, Kovacs P, Halbritter J, Stumvoll M. Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene. Metabolism 2008: 57: 416-420.
-
(2008)
Metabolism
, vol.57
, pp. 416-420
-
-
Mayer, C.1
Böttcher, Y.2
Kovacs, P.3
Halbritter, J.4
Stumvoll, M.5
-
20
-
-
33751206505
-
Hepatocyte nuclear factor-1 beta muataions cause neonatal diabetes and trauterine growth retardation: support for a critical role of HNF-1 beta in human pancratetic development
-
Edghill EL, Bingham C, Slingerland S et al. Hepatocyte nuclear factor-1 beta muataions cause neonatal diabetes and trauterine growth retardation: support for a critical role of HNF-1 beta in human pancratetic development. Diabetes Med 2006: 23: 1301-1306.
-
(2006)
Diabetes Med
, vol.23
, pp. 1301-1306
-
-
Edghill, E.L.1
Bingham, C.2
Slingerland, S.3
-
21
-
-
2942666206
-
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1 beta gene due to germline mosaicism.
-
Yorifuji T, Kurokawa K, Mamada M et al. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1 beta gene due to germline mosaicism. J Clin Endocrinol Metabol 2004: 89: 2905-2908.
-
(2004)
J Clin Endocrinol Metabol
, vol.89
, pp. 2905-2908
-
-
Yorifuji, T.1
Kurokawa, K.2
Mamada, M.3
-
22
-
-
79251499248
-
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity-onset diabetes of the young
-
Chen Y, Gao Q, Zhao X et al. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity-onset diabetes of the young. Chin Med J 2010: 123: 3326-3333.
-
(2010)
Chin Med J
, vol.123
, pp. 3326-3333
-
-
Chen, Y.1
Gao, Q.2
Zhao, X.3
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