메뉴 건너뛰기




Volumn 10, Issue 8, 2009, Pages 497-499

Diagnosing monogenic diabetes: Common misinterpretations of genetic findings

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GLYCINE; HEMOGLOBIN A1C; INSULIN;

EID: 77449138352     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2009.00560.x     Document Type: Editorial
Times cited : (3)

References (15)
  • 1
    • 0031892442 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • International Organization for Standardization, (available from
    • 2007, http://www.iso15189.com, International Organization for Standardization, (available from
    • (2007)
  • 5
    • 77954434337 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.