-
1
-
-
0031892442
-
Maturity-onset diabetes of the young: a clinical history
-
Tattersall R. Maturity-onset diabetes of the young: a clinical history. Diabet Med 1998, 15:11-14.
-
(1998)
Diabet Med
, vol.15
, pp. 11-14
-
-
Tattersall, R.1
-
2
-
-
41149084500
-
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
-
Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 2008, 4:200-213.
-
(2008)
Nat Clin Pract Endocrinol Metab
, vol.4
, pp. 200-213
-
-
Murphy, R.1
Ellard, S.2
Hattersley, A.T.3
-
3
-
-
33847747768
-
ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children.
-
International Society for Pediatric and Adolescent Diabetes, Erratum in:, 2007;8:49
-
Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue K. ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. Pediatr Diabetes 2006, 7:352-360. International Society for Pediatric and Adolescent Diabetes, Erratum in:, 2007;8:49
-
(2006)
Pediatr Diabetes
, vol.7
, pp. 352-360
-
-
Hattersley, A.1
Bruining, J.2
Shield, J.3
Njolstad, P.4
Donaghue, K.5
-
4
-
-
77954453110
-
-
International Organization for Standardization, (available from
-
2007, http://www.iso15189.com, International Organization for Standardization, (available from
-
(2007)
-
-
-
5
-
-
77954434337
-
-
Guidelines for quality assurance in molecular genetic testing. OECD;, (available from
-
2007, http://www.oecd.org/dataoecd/43/6/38839788.pdf, Guidelines for quality assurance in molecular genetic testing. OECD;, (available from
-
(2007)
-
-
-
6
-
-
41149139275
-
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
-
European Molecular Genetics Quality Network (EMQN) MODY group
-
Ellard S, Bellannè-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008, 51:546-553. European Molecular Genetics Quality Network (EMQN) MODY group
-
(2008)
Diabetologia
, vol.51
, pp. 546-553
-
-
Ellard, S.1
Bellannè-Chantelot, C.2
Hattersley, A.T.3
-
7
-
-
77449131348
-
An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age
-
(in press)
-
Odem J, Munzinger E, Violand S, Morlan AV, Rife D, Bachrach B. An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age. Pediatr Diabetes 2009, (in press)
-
(2009)
Pediatr Diabetes
-
-
Odem, J.1
Munzinger, E.2
Violand, S.3
Morlan, A.V.4
Rife, D.5
Bachrach, B.6
-
8
-
-
0032742985
-
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes
-
Macfarlane WM, Frayling TM, Ellard S. Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest 1999, 104:R33-R39.
-
(1999)
J Clin Invest
, vol.104
-
-
Macfarlane, W.M.1
Frayling, T.M.2
Ellard, S.3
-
9
-
-
0032718689
-
Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus
-
Hani EH, Stoffers DA, Chévre JC. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest 1999, 104:R41-R48.
-
(1999)
J Clin Invest
, vol.104
-
-
Hani, E.H.1
Stoffers, D.A.2
Chévre, J.C.3
-
10
-
-
3342917161
-
Does the aspartic acid to asparagine substitution at position 76 in the pancreas duodenum homeobox gene (PDX1) cause late-onset type 2 diabetes?
-
Elbein SC, Karim MA. Does the aspartic acid to asparagine substitution at position 76 in the pancreas duodenum homeobox gene (PDX1) cause late-onset type 2 diabetes? Diabetes Care 2004, 27:1968-1973.
-
(2004)
Diabetes Care
, vol.27
, pp. 1968-1973
-
-
Elbein, S.C.1
Karim, M.A.2
-
11
-
-
34848887005
-
Meta-analysis of the IPF1 D76N polymorphism in a worldwide type 2 diabetes population
-
Gragnoli C, Cronsell J. Meta-analysis of the IPF1 D76N polymorphism in a worldwide type 2 diabetes population. Minerva Med 2007, 98:163-166.
-
(2007)
Minerva Med
, vol.98
, pp. 163-166
-
-
Gragnoli, C.1
Cronsell, J.2
-
12
-
-
42449134450
-
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood
-
Edghill EL, Flanagan SE, Patch AM. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008, 57:1034-1042.
-
(2008)
Diabetes
, vol.57
, pp. 1034-1042
-
-
Edghill, E.L.1
Flanagan, S.E.2
Patch, A.M.3
-
13
-
-
52649099443
-
Diagnosis and treatment of neonatal diabetes: a United States experience
-
Støy J, Greeley SA, PAZ VP. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes 2008, 9:450-459.
-
(2008)
Pediatr Diabetes
, vol.9
, pp. 450-459
-
-
Støy, J.1
Greeley, S.A.2
PAZ, V.P.3
-
14
-
-
33746686369
-
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
-
Pearson ER, Flechtner I, Njølstad PR. 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
-
15
-
-
38949177444
-
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
-
Rafiq M, Flanagan SE, Patch AM. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care 2008, 31:204-209.
-
(2008)
Diabetes Care
, vol.31
, pp. 204-209
-
-
Rafiq, M.1
Flanagan, S.E.2
Patch, A.M.3
|