Yamagata K, Furuta H, Oda N et al. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature 1996: 384: 458-460.
Froguel P, Zouali H, Vionnet N et al. Familial hyperglycemia due to mutations in glucokinase - definition of a subtype of diabetes mellitus. N Engl J Med 1993: 328: 697-702.
Yamagata K, Oda N, Kaisaki PJ et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996: 384: 455-458.
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.
Malecki MT, Jhala US, Antonellis A et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 1999: 23: 323-328.
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.
Frayling TM, Evans JC, Bulman MP et al. Beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 2001: 50 (Suppl. 1): S94-100.
Massa O, Meschi F, Cuesta-Munoz A et al. 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.
Pruhova S, Ek J, Lebl J et al. Genetic epidemiology of MODY in the Czech republic: New mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. Diabetologia 2003: 46: 291-295.
Toaima D, Nake A, Wendenburg J et al. Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY). Hum Mutat 2005: 25: 503-504.
Hager J, Blanche H, Sun F et al. Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique. Diabetes 1994: 43: 730-733.
Ellard S, Beards F, Allen LI et al. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia 2000: 43: 250-253.
Velho G, Blanche H, Vaxillaire M et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 1997: 40: 217-224.
Thomson KL, Gloyn AL, Colclough K et al. Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). Hum Mutat 2003: 22: 417.
Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences. Hum Genet 1992: 90: 41-54.
Costa A, Bescos M, Velho G et al. Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. Eur J Endocrinol 2000: 142: 380-386.
Sunyaev S, Ramensky V, Koch I, Lathe W III, Kondrashov AS., Bork P Prediction of deleterious human alleles. Hum Mol Genet 2001: 10: 591-597.
Shimada F, Makino H, Hashimoto N et al. Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family. Diabetologia 1993: 36: 433-437.
Gloyn AL. Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat 2003: 22: 353-362.
Pearson ER, Velho G, Clark P et al. beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. Diabetes 2001: 50 (Suppl. 1): S101-107.
Stride A, Vaxillaire M, Tuomi T et al. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia 2002: 45: 427-435.
Barrio R, Bellanne-Chantelot C, Moreno JC et al. 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.
Frayling TM, Bulamn MP, Ellard S et al. Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 1997: 46: 720-725.
Ziemssen F, Bellanne-Chantelot C, Osterhoff M, Schatz H, Pfeiffer AF. To:
Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123. Diabetologia 2002: 45: 286-287; author reply 287-288.