The diagnosis and management of monogenic diabetes in children and adolescents
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[1] S. Wiegand,et al. Reclassification of diabetes type in pediatric patients initially classified as type 2 diabetes mellitus: 15 years follow-up using routine data from the German/Austrian DPV database. , 2011, Diabetes research and clinical practice.
[2] G. Bell,et al. MODY: history, genetics, pathophysiology, and clinical decision making. , 2011, Diabetes care.
[3] K. Rahmouni,et al. Molecular basis of the obesity associated with Bardet–Biedl syndrome , 2011, Trends in Endocrinology & Metabolism.
[4] E. Cummings,et al. Presentation and course of diabetes in children and adolescents with Alstrom syndrome , 2011, Pediatric diabetes.
[5] A. Hattersley,et al. Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3 , 2011, Diabetes.
[6] F. Cerutti,et al. Permanent diabetes during the first year of life: multiple gene screening in 54 patients , 2011, Diabetologia.
[7] Aaron N. Winn,et al. The Cost-Effectiveness of Personalized Genetic Medicine , 2011, Diabetes Care.
[8] R. Ravazzolo,et al. Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis , 2010, Diabetic medicine : a journal of the British Diabetic Association.
[9] J. Lalau. Lactic Acidosis Induced by Metformin , 2010, Drug safety.
[10] F. Ashcroft,et al. SYMPOSIUM REVIEW: The role of the KATP channel in glucose homeostasis in health and disease: more than meets the islet , 2010, The Journal of physiology.
[11] L. Philipson,et al. Neonatal diabetes mellitus: A model for personalized medicine , 2010, Trends in Endocrinology & Metabolism.
[12] F. Ashcroft,et al. Muscle Dysfunction Caused by a KATP Channel Mutation in Neonatal Diabetes Is Neuronal in Origin , 2010, Science.
[13] Sian Ellard,et al. Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities , 2010, Diabetes.
[14] B. Shields,et al. Maturity-onset diabetes of the young (MODY): how many cases are we missing? , 2010, Diabetologia.
[15] S. Ellard,et al. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations , 2010, European journal of endocrinology.
[16] J. Skupień,et al. Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up. , 2010, Diabetes technology & therapeutics.
[17] D. Dunger,et al. Treatment with recombinant human insulin-like growth factor (rhIGF)-I/rhIGF binding protein-3 complex improves metabolic control in subjects with severe insulin resistance. , 2010, The Journal of clinical endocrinology and metabolism.
[18] B. Shields,et al. Increased all‐cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene , 2010, Diabetic medicine : a journal of the British Diabetic Association.
[19] A. Hattersley,et al. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis , 2010, Proceedings of the National Academy of Sciences.
[20] K. Dewar,et al. Rfx6 Directs Islet Formation and Insulin Production in Mice and Humans , 2009, Nature.
[21] E. Mahone,et al. Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15‐yr‐old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM , 2009, Pediatric diabetes.
[22] Ó. Rubio-Cabezas. Diagnosing monogenic diabetes: common misinterpretations of genetic findings , 2009, Pediatric diabetes.
[23] J. Hahn,et al. Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia , 2009, American journal of medical genetics. Part A.
[24] A. Hattersley,et al. Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. , 2009, The Journal of clinical endocrinology and metabolism.
[25] J. Argente,et al. Testing for monogenic diabetes among children and adolescents with antibody‐negative clinically defined Type 1 diabetes , 2009, Diabetic medicine : a journal of the British Diabetic Association.
[26] A. Moran,et al. Management of cystic fibrosis‐related diabetes in children and adolescents , 2009, Pediatric diabetes.
[27] H. Gin,et al. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. , 2009, The Journal of clinical endocrinology and metabolism.
[28] D. Horn,et al. Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. , 2009, The Journal of clinical endocrinology and metabolism.
[29] G. d’Annunzio,et al. Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia: , 2009, Diabetes Care.
[30] A. Hattersley,et al. Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide , 2009, Diabetes Care.
[31] B. Shields,et al. A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin‐treated patients , 2009, Diabetic medicine : a journal of the British Diabetic Association.
[32] F. Meschi,et al. Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies , 2009, Diabetes Care.
[33] A. Hattersley,et al. Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes , 2009, Diabetes Care.
[34] P. Ruszniewski,et al. The natural history of hereditary pancreatitis: a national series , 2008, Gut.
[35] A. Hattersley,et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 , 2008, Nature Genetics.
[36] A. Molven,et al. Lack of pancreatic body and tail in HNF1B mutation carriers , 2008, Diabetic medicine : a journal of the British Diabetic Association.
[37] T. Hansen,et al. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. , 2008, The Journal of clinical investigation.
[38] A. Hattersley,et al. Persistent Hyperinsulinemic Hypoglycemia and Maturity-onset Diabetes of the Young Due to Heterozygous Hnf4a Mutations , 2022 .
[39] P. Yong,et al. Use of Sirolimus in IPEX and IPEX-Like Children , 2008, Journal of Clinical Immunology.
[40] R. Scharfmann,et al. Heterozygous Missense Mutations in the Insulin Gene Are Linked to Permanent Diabetes Appearing in the Neonatal Period or in Early Infancy , 2008, Diabetes.
[41] Geir Joner,et al. Mutations in the Insulin Gene Can Cause MODY and Autoantibody-Negative Type 1 Diabetes , 2008, Diabetes.
[42] F. Cadario,et al. The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. , 2008, The Journal of clinical endocrinology and metabolism.
[43] A. Hattersley,et al. Clinical implications of a molecular genetic classification of monogenic β-cell diabetes , 2008, Nature Clinical Practice Endocrinology &Metabolism.
[44] S. Ellard,et al. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young , 2008, Diabetologia.
[45] C. Bellanné-Chantelot,et al. The Type and the Position of HNF1A Mutation Modulate Age at Diagnosis of Diabetes in Patients with Maturity-Onset Diabetes of the Young (MODY)-3 , 2008, Diabetes.
[46] D. Eizirik,et al. The role for endoplasmic reticulum stress in diabetes mellitus. , 2008, Endocrine reviews.
[47] Stephen O’Riordana,et al. 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 , 2008 .
[48] A. Hattersley,et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. , 2008, Diabetes.
[49] F. Ashcroft,et al. Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11 , 2007, Nature Clinical Practice Neurology.
[50] F. Crispim,et al. Sulfonylrea Treatment in Permanent Neonatal Diabetes Due to G53D Mutation in the KCNJ11 Gene , 2007, Diabetes Care.
[51] M. Zhang,et al. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. , 2007, American journal of human genetics.
[52] A. Hattersley,et al. Insulin gene mutations as a cause of permanent neonatal diabetes , 2007, Proceedings of the National Academy of Sciences.
[53] F. Ashcroft,et al. Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. , 2007, American journal of human genetics.
[54] G. Sebag,et al. Metabolic Correction Induced by Leptin Replacement Treatment in Young Children With Berardinelli-Seip Congenital Lipoatrophy , 2007, Pediatrics.
[55] A. Hattersley,et al. Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. , 2007, The Journal of clinical endocrinology and metabolism.
[56] A. Hattersley,et al. Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene , 2007, PLoS medicine.
[57] P. Beales,et al. Bardet–Biedl syndrome: beyond the cilium , 2007, Pediatric Nephrology.
[58] A. Molven,et al. Pancreatic Lipomatosis Is a Structural Marker in Nondiabetic Children With Mutations in Carboxyl-Ester Lipase , 2007, Diabetes.
[59] D. Collier,et al. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. , 1999, American journal of human genetics.
[60] S. Davies,et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. , 2007, Blood.
[61] S. Ellard,et al. Hepatocyte nuclear factor‐1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF‐1β in human pancreatic development , 2006, Diabetic medicine : a journal of the British Diabetic Association.
[62] A. Hattersley,et al. Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene , 2006, Diabetologia.
[63] R. Scharfmann,et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. , 2006, The New England journal of medicine.
[64] F. Ashcroft,et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. , 2006, The New England journal of medicine.
[65] A. Hattersley,et al. Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. , 2006, Human molecular genetics.
[66] R. Siebert,et al. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus , 2006, Human Genetics.
[67] F. Ashcroft,et al. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. , 2006, Human molecular genetics.
[68] P. Bingley,et al. HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months , 2006, Diabetes.
[69] C. Julier,et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism , 2006, Nature Genetics.
[70] A. Hattersley,et al. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features , 2006, European Journal of Human Genetics.
[71] A. Hattersley,et al. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype , 2006, Diabetologia.
[72] T. Hansen,et al. Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents , 2006, European Journal of Pediatrics.
[73] P. Massin,et al. Kearns Sayre syndrome: an unusual form of mitochondrial diabetes. , 2006, Diabetes & metabolism.
[74] V. Nunes,et al. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease. , 2006, Pediatric endocrinology reviews : PER.
[75] L. Groop,et al. Improved prandial glucose control with lower risk of hypoglycemia with nateglinide than with glibenclamide in patients with maturity-onset diabetes of the young type 3. , 2006, Diabetes care.
[76] J. Girard. Hormonal Regulation of Fetal Growth , 2006 .
[77] A. Molven,et al. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction , 2006, Nature Genetics.
[78] C. Bellanné-Chantelot,et al. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. , 2006, Journal of the American Society of Nephrology : JASN.
[79] N. Gungor,et al. Type 2 diabetes mellitus in youth: the complete picture to date. , 2005, Pediatric clinics of North America.
[80] M. Jadoul,et al. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. , 2005, Diabetes.
[81] F. Ashcroft,et al. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. , 2005, Diabetes.
[82] A. Hattersley. Molecular genetics goes to the diabetes clinic. , 2005, Clinical medicine.
[83] H. Ochs,et al. Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). , 2005, The Journal of pediatrics.
[84] F. Ashcroft. ATP-sensitive potassium channelopathies: focus on insulin secretion. , 2005, The Journal of clinical investigation.
[85] A. Hattersley,et al. β-Cell Dysfunction, Insulin Sensitivity, and Glycosuria Precede Diabetes in Hepatocyte Nuclear Factor-1α Mutation Carriers , 2005 .
[86] F. Matschinsky. Glucokinase, glucose homeostasis, and diabetes mellitus , 2005, Current diabetes reports.
[87] A. Hattersley,et al. Mutations in hepatocyte nuclear factor-1β and their related phenotypes , 2005, Journal of Medical Genetics.
[88] A. Hattersley,et al. Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: New insights and new treatment , 2005, Annals of medicine.
[89] T. Hansen,et al. Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection , 2005, Diabetologia.
[90] F. Ashcroft,et al. Relapsing diabetes can result from moderately activating mutations in KCNJ11. , 2005, Human molecular genetics.
[91] A. Hattersley,et al. High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. , 2005, Diabetes care.
[92] A. Hattersley,et al. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes , 2005, Human mutation.
[93] A. Hattersley,et al. Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. , 2005, Diabetes care.
[94] R. Gitzelmann,et al. Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA , 2005, European Journal of Pediatrics.
[95] F. Ashcroft,et al. Perspectives in Diabetes Activating Mutations in Kir 6 . 2 and Neonatal Diabetes New Clinical Syndromes , New Scientific Insights , and New Therapy , 2005 .
[96] A. Hattersley,et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis , 2004, Nature Genetics.
[97] B. Glaser,et al. Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. , 2004, The Journal of clinical endocrinology and metabolism.
[98] A. Hattersley,et al. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. , 2004, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[99] A. Hattersley,et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. , 2004, Diabetes.
[100] A. Hattersley,et al. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. , 2004, Diabetes.
[101] T. Barrett,et al. Wolcott‐Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature , 2004, Acta paediatrica.
[102] G. Rutter,et al. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. , 2004, The Journal of clinical investigation.
[103] Simeon I. Taylor,et al. Clinical Course of Genetic Diseases of the Insulin Receptor (Type A and Rabson-Mendenhall Syndromes): A 30-Year Prospective , 2004, Medicine.
[104] G. Lathrop,et al. Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. , 2004, Diabetes.
[105] M. Polak,et al. An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission , 2004, Archives of Disease in Childhood - Fetal and Neonatal Edition.
[106] P. Njølstad,et al. Permanent Neonatal Diabetes mellitus due to Glucokinase Deficiency , 2004 .
[107] T. Nakahata,et al. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. , 2004, The Journal of clinical endocrinology and metabolism.
[108] D. Dunger,et al. First UK survey of paediatric type 2 diabetes and MODY , 2004, Archives of Disease in Childhood.
[109] A. Hattersley,et al. Contrasting Diabetes Phenotypes Associated With Hepatocyte Nuclear Factor-1α and -1β Mutations , 2004 .
[110] F. Ashcroft,et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. , 2004, The New England journal of medicine.
[111] Christine Bellann-Chantelot,et al. Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1 Mutations , 2004, Annals of Internal Medicine.
[112] H. Gin,et al. Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). , 2004, Diabetes & metabolism.
[113] A. Garg. Acquired and inherited lipodystrophies. , 2004, The New England journal of medicine.
[114] M. Polak,et al. Neonatal and very-early-onset diabetes mellitus. , 2004, Seminars in neonatology : SN.
[115] G. Nijpels,et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation. , 2004, Diabetes.
[116] G. Nijpels,et al. Molecular mechanisms and clinical presentation , 2004 .
[117] A. Hattersley,et al. Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations. , 2004, Diabetes care.
[118] A. Hattersley,et al. No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas. , 2003, Diabetes care.
[119] A. Molven,et al. Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. , 2003, Diabetes.
[120] A. Hattersley,et al. Genetic cause of hyperglycaemia and response to treatment in diabetes , 2003, The Lancet.
[121] A. Hattersley,et al. Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene , 2003, Diabetic medicine : a journal of the British Diabetic Association.
[122] S. O’Rahilly,et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. , 2003, The Journal of clinical endocrinology and metabolism.
[123] A. Hattersley,et al. Genetic Aetiology of Hyperglycaemia Alters Response to Treatment in Diabetes , 2003 .
[124] P. Bingley,et al. Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes. , 2003, Diabetes care.
[125] S. Kurtoğlu,et al. TRMA syndrome (thiamine‐responsive megaloblastic anemia): a case report and review of the literature , 2002, Pediatric diabetes.
[126] J. Shield,et al. Transient neonatal diabetes, a disorder of imprinting , 2002, Journal of medical genetics.
[127] P. Fernlund,et al. Insulin autoantibodies are of less value compared with islet antibodies in the clinical diagnosis of autoimmune type 1 diabetes in children older than 3 yr of age , 2002, Pediatric diabetes.
[128] K. Petersen,et al. Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. , 2002, The Journal of clinical investigation.
[129] M. Martinetti,et al. Permanent diabetes mellitus in the first year of life , 2002, Diabetologia.
[130] H. Yoo,et al. Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia , 2002, European Journal of Pediatrics.
[131] David I. Wilson,et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome , 2002, Nature Genetics.
[132] A. Hattersley,et al. Different genes, different diabetes: lessons from maturity-onset diabetes of the young , 2002, Annals of medicine.
[133] M. Martinetti,et al. Permanent diabetes mellitus in the first year of life , 2002, Diabetologia.
[134] T. Hansen,et al. The genetic abnormality in the beta cell determines the response to an oral glucose load , 2002, Diabetologia.
[135] A. Coupe,et al. Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus , 2002, Human Genetics.
[136] Á. Hreidarsson,et al. MODY in Iceland is associated with mutations in HNF-1α and a novel mutation in NeuroD1 , 2001, Diabetologia.
[137] G I Bell,et al. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. , 2001, The New England journal of medicine.
[138] Bethan E. Hoskins,et al. Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder , 2001, Science.
[139] E. Bonifacio,et al. Risk of type 1 diabetes development in children with incidental hyperglycemia: A multicenter Italian study. , 2001, Diabetes Care.
[140] A. Molven,et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. , 2001, The New England journal of medicine.
[141] F. Khanim,et al. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases , 2001, Human mutation.
[142] H. Ochs,et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 , 2001, Nature Genetics.
[143] J. Casanova,et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy , 2001, Nature Genetics.
[144] S. Ehtisham,et al. Type 2 diabetes mellitus in UK children – an emerging problem , 2000, Diabetic medicine : a journal of the British Diabetic Association.
[145] A. Franzese,et al. MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of “neonatal diabetes”? , 2000, Diabetologia.
[146] E. Hathout,et al. Diabetic autoimmunity in infants and pre‐schoolers with type 1 diabetes , 2000, Pediatric diabetes.
[147] G. Lathrop,et al. EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome , 2000, Nature Genetics.
[148] J. Barber,et al. Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. , 2000, Diabetes.
[149] A. Hattersley,et al. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor‐1α gene mutations: evidence for pharmacogenetics in diabetes , 2000, Diabetic medicine : a journal of the British Diabetic Association.
[150] R. Siebert,et al. An imprinted locus associated with transient neonatal diabetes mellitus. , 2000, Human molecular genetics.
[151] D. Collier,et al. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. , 1999, American journal of human genetics.
[152] Marc Montminy,et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus , 1999, Nature Genetics.
[153] Timothy Barrett,et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness , 1999, Nature Genetics.
[154] Diabetes-associated autoantibodies in relation to clinical characteristics and natural course in children with newly diagnosed type 1 diabetes. The Childhood Diabetes In Finland Study Group. , 1999, The Journal of clinical endocrinology and metabolism.
[155] T. Meitinger,et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. , 1998, Human molecular genetics.
[156] A. M. Møller,et al. Mutations in the hepatocyte nuclear factor-1α gene in Caucasian families originally classified as having Type I diabetes , 1998, Diabetologia.
[157] P. Behn,et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) , 1998, Nature Genetics.
[158] R. Tattersall,et al. Maturity‐onset diabetes of the young: a clinical history , 1998, Diabetic medicine : a journal of the British Diabetic Association.
[159] L. Groop,et al. Chronic diabetic complications in patients with MODY3 diabetes , 1998, Diabetologia.
[160] W. Clarke,et al. Early-onset type-ll diabetes mellitus (MODY4) linked to IPF1 , 1997, Nature Genetics.
[161] G. Bell,et al. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. , 1997, Nature genetics.
[162] William L. Clarke,et al. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence , 1997, Nature Genetics.
[163] P. Froguel,et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families , 1997, Diabetologia.
[164] T. Hansen,et al. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3) , 1996, Nature.
[165] A. Hattersley,et al. Altered Insulin Secretory Responses to Glucose in Diabetic and Nondiabetic Subjects With Mutations in the Diabetes Susceptibility Gene MODY3 on Chromosome 12 , 1996, Diabetes.
[166] M. Stoffel,et al. Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1) , 1996, Nature.
[167] T. Barrett,et al. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome , 1995, The Lancet.
[168] J. Inazawa,et al. Reconstitution of IKATP: An Inward Rectifier Subunit Plus the Sulfonylurea Receptor , 1995, Science.
[169] D. Evain-Brion. Hormonal regulation of fetal growth. , 1994, Hormone research.
[170] M. B. Brown,et al. Administration of Sulfonylureas Can Increase Glucose-Induced Insulin Secretion for Decades in Patients With Maturity-Onset Diabetes of the Young , 1993, Diabetes Care.
[171] J. Maassen,et al. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness , 1992, Nature Genetics.
[172] M. Stoffel,et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus , 1992, Nature.
[173] I. Nonaka,et al. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies , 1990, Nature.
[174] J. Köbberling,et al. Age-Corrected Empirical Genetic Risk Estimates for First-Degree Relatives of IDDM Patients , 1987, Diabetes.
[175] H. Mandel,et al. Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome". , 1984, The New England journal of medicine.
[176] A. Arbor,et al. A Difference Between the Inheritance of Classical Juvenile-onset and Maturity-onset Type Diabetes of Young People , 1975, Diabetes.
[177] R. Tattersall. Mild familial diabetes with dominant inheritance. , 1974, The Quarterly journal of medicine.
[178] L. Nilsson,et al. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. , 1959, Acta psychiatrica et neurologica Scandinavica. Supplementum.