{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T15:16:46Z","timestamp":1779895006646,"version":"3.53.1"},"reference-count":42,"publisher":"The Endocrine Society","issue":"3","funder":[{"name":"Federal Ministry of Education and Research within the German Center for Diabetes Research","award":["82DZD0017G"],"award-info":[{"award-number":["82DZD0017G"]}]},{"name":"INNODIA, supported by the European Union\u2019s Horizon 2020 research and innovation program and \u201cEFPIA\u201d\u009d, \u2018JDRF\u201d and \u201cThe Leona M. and Harry B. Helmsley Charitable Trust","award":["115797"],"award-info":[{"award-number":["115797"]}]},{"DOI":"10.13039\/501100010215","name":"Deutsche Diabetes Gesellschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010215","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Robert Koch Institut"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,3,1]]},"DOI":"10.1210\/jc.2018-01696","type":"journal-article","created":{"date-parts":[[2018,12,10]],"date-time":"2018-12-10T14:17:44Z","timestamp":1544451464000},"page":"845-855","source":"Crossref","is-referenced-by-count":45,"title":["Frequency and Characteristics of MODY 1 (HNF4A Mutation) and MODY 5 (HNF1B Mutation): Analysis From the DPV Database"],"prefix":"10.1210","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1758-7656","authenticated-orcid":false,"given":"Katharina","family":"Warncke","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Klinikum Rechts der Isar, Technische Universit\u00e4t M\u00fcnchen, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Kummer","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children\u2019s Hospital Medical Faculty, D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klemens","family":"Raile","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetology, Charit\u00e9, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Grulich-Henn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Heidelberg, Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Woelfle","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Division, Children\u2019s Hospital, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Steichen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Prinz","sequence":"additional","affiliation":[{"name":"Institute of Epidemiology and Medical Biometry, Central Institute for Biomedical Technology, University of Ulm, Ulm, Germany"},{"name":"German Center for Diabetes Research, Munich-Neuherberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhard W","family":"Holl","sequence":"additional","affiliation":[{"name":"Institute of Epidemiology and Medical Biometry, Central Institute for Biomedical Technology, University of Ulm, Ulm, Germany"},{"name":"German Center for Diabetes Research, Munich-Neuherberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2018,12,10]]},"reference":[{"issue":"7","key":"2019041118064199800_B1","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1007\/s00125-013-2916-y","article-title":"Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry","volume":"56","author":"Irgens","year":"2013","journal-title":"Diabetologia"},{"issue":"10","key":"2019041118064199800_B2","doi-asserted-by":"crossref","first-page":"2631","DOI":"10.1007\/s00125-012-2621-2","article-title":"Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign","volume":"55","author":"Fendler","year":"2012","journal-title":"Diabetologia"},{"issue":"11","key":"2019041118064199800_B3","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.2337\/dc16-0645","article-title":"Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes","volume":"39","author":"Shepherd","year":"2016","journal-title":"Diabetes Care"},{"issue":"3","key":"2019041118064199800_B4","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1007\/s13300-016-0192-9","article-title":"ABCC8-related maturity-onset diabetes of the young (MODY12): clinical features and treatment perspective","volume":"7","author":"Ovsyannikova","year":"2016","journal-title":"Diabetes Ther"},{"issue":"6","key":"2019041118064199800_B5","doi-asserted-by":"crossref","first-page":"3174","DOI":"10.1210\/jc.2005-0096","article-title":"The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus","volume":"90","author":"Yorifuji","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2019041118064199800_B6","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1111\/1753-0407.12446","article-title":"Monogenic diabetes: implementation of translational genomic research towards precision medicine","volume":"8","author":"Vaxillaire","year":"2016","journal-title":"J Diabetes"},{"issue":"10","key":"2019041118064199800_B7","doi-asserted-by":"crossref","first-page":"4055","DOI":"10.1210\/jc.2013-1279","article-title":"Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth","volume":"98","author":"Pihoker","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2019041118064199800_B8","doi-asserted-by":"crossref","first-page":"2504","DOI":"10.1007\/s00125-010-1799-4","article-title":"Maturity-onset diabetes of the young (MODY): how many cases are we missing","volume":"53","author":"Shields","year":"2010","journal-title":"Diabetologia"},{"issue":"9392","key":"2019041118064199800_B9","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1016\/S0140-6736(03)14571-0","article-title":"Genetic cause of hyperglycaemia and response to treatment in diabetes","volume":"362","author":"Pearson","year":"2003","journal-title":"Lancet"},{"issue":"7","key":"2019041118064199800_B10","doi-asserted-by":"crossref","first-page":"2658","DOI":"10.1210\/jc.2008-2189","article-title":"Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young","volume":"94","author":"Raile","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2019041118064199800_B11","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1038\/ncpendmet0778","article-title":"Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes","volume":"4","author":"Murphy","year":"2008","journal-title":"Nat Clin Pract Endocrinol Metab"},{"key":"2019041118064199800_B12","first-page":"1993","volume-title":"GeneReviews\u00ae. Seattle (WA)","author":"Glaser","year":"2003"},{"issue":"6","key":"2019041118064199800_B13","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1007\/s00592-016-0890-9","article-title":"Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT: evidence of persistent hyperinsulinism into early adulthood","volume":"53","author":"Bacon","year":"2016","journal-title":"Acta Diabetol"},{"issue":"4","key":"2019041118064199800_B14","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1530\/EJE-10-0842","article-title":"Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database","volume":"164","author":"Awa","year":"2011","journal-title":"Eur J Endocrinol"},{"issue":"4","key":"2019041118064199800_B15","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1111\/dme.12662","article-title":"Treatment of young patients with HNF1A mutations (HNF1A-MODY)","volume":"32","author":"Raile","year":"2015","journal-title":"Diabet Med"},{"issue":"5","key":"2019041118064199800_B16","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/j.1464-5491.2009.02720.x","article-title":"Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database","volume":"26","author":"Schober","year":"2009","journal-title":"Diabet Med"},{"issue":"1","key":"2019041118064199800_B17","doi-asserted-by":"crossref","first-page":"80","DOI":"10.2337\/dc11-0993","article-title":"Improved metabolic control in children and adolescents with type 1 diabetes: a trend analysis using prospective multicenter data from Germany and Austria","volume":"35","author":"Rosenbauer","year":"2012","journal-title":"Diabetes Care"},{"key":"2019041118064199800_B18","unstructured":"Warncke\n              K\n            , KummerS, RaileK, Grulich-HennJ, WoelfleJ, SteichenE, PrinzN, HollRW. Data from: Frequency and characteristics of MODY 1 (HNF4A mutation) and MODY 5 (HNF1B mutation)\u2014Analysis from the DPV database. Dryad 2019. Deposited 7 January 2019. http:\/\/doi.org\/10.5061\/dryad.72d1v26."},{"issue":"S20","key":"2019041118064199800_B19","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1111\/pedi.12186","article-title":"ISPAD clinical practice consensus guidelines 2014: definition, epidemiology, and classification of diabetes in children and adolescents","volume":"15","author":"Craig","year":"2014","journal-title":"Pediatr Diabetes"},{"issue":"7","key":"2019041118064199800_B20","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1055\/s-0034-1366384","article-title":"Diagnosis, therapy and control of diabetes mellitus in children and adolescents","volume":"122","author":"Neu","year":"2014","journal-title":"Exp Clin Endocrinol Diabetes"},{"issue":"5","key":"2019041118064199800_B21","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"4","key":"2019041118064199800_B22","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1007\/s00125-008-0942-y","article-title":"Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young","volume":"51","author":"Ellard","year":"2008","journal-title":"Diabetologia"},{"key":"2019041118064199800_B23","doi-asserted-by":"crossref","first-page":"D710","DOI":"10.1093\/nar\/gkv1157","article-title":"Ensembl 2016","volume":"44","author":"Yates","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"2019041118064199800_B24","first-page":"55","volume-title":"POCT 2008. Patientennahe Labordiagnostik","author":"Schlebusch","year":"2008"},{"issue":"5","key":"2019041118064199800_B25","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1016\/j.jpeds.2013.12.038","article-title":"Algorithm-based cholesterol monitoring in children with type 1 diabetes","volume":"164","author":"Schwab","year":"2014","journal-title":"J Pediatr"},{"issue":"7","key":"2019041118064199800_B26","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1055\/s-2006-924152","article-title":"Is the frequency of self-monitoring of blood glucose related to long-term metabolic control? Multicenter analysis including 24,500 patients from 191 centers in Germany and Austria","volume":"114","author":"Sch\u00fctt","year":"2006","journal-title":"Exp Clin Endocrinol Diabetes"},{"issue":"S20","key":"2019041118064199800_B27","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/pedi.12190","article-title":"ISPAD clinical practice consensus guidelines 2014: assessment and monitoring of glycemic control in children and adolescents with diabetes","volume":"15","author":"Rewers","year":"2014","journal-title":"Pediatr Diabetes"},{"issue":"8","key":"2019041118064199800_B28","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1007\/s001120170107","article-title":"Perzentile f\u00fcr den body-mass-index f\u00fcr das Kindes- und Jugendalter unter Heranziehung verschiedener deutscher Stichproben","volume":"149","author":"Kromeyer-Hauschild","year":"2001","journal-title":"Monatsschr Kinderheilkd"},{"key":"2019041118064199800_B29","first-page":"123","article-title":"Referenzwerte f\u00fcr den body-mass-index f\u00fcr Kinder, Jugendliche und Erwachsene in Deutschland: Anpassung der AGA-BMI-Referenz im Altersbereich von 15 bis 18 Jahren","volume":"9","author":"Kromeyer-Hauschild","year":"2015","journal-title":"Adipositas."},{"issue":"10","key":"2019041118064199800_B30","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1002\/sim.4780111005","article-title":"Smoothing reference centile curves: the LMS method and penalized likelihood","volume":"11","author":"Cole","year":"1992","journal-title":"Stat Med"},{"issue":"4","key":"2019041118064199800_B31","doi-asserted-by":"crossref","first-page":"726","DOI":"10.2337\/dc07-1392","article-title":"Tracking and prediction of arterial blood pressure from childhood to young adulthood in 868 patients with type 1 diabetes: a multicenter longitudinal survey in Germany and Austria","volume":"31","author":"Knerr","year":"2008","journal-title":"Diabetes Care"},{"issue":"4","key":"2019041118064199800_B32","doi-asserted-by":"crossref","first-page":"e978","DOI":"10.1542\/peds.2010-1290","article-title":"Blood pressure percentiles by age and height from nonoverweight children and adolescents in Germany","volume":"127","author":"Neuhauser","year":"2011","journal-title":"Pediatrics"},{"issue":"2","key":"2019041118064199800_B33","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1097\/00004872-199102000-00002","article-title":"Blood pressure in childhood: pooled findings of six European studies","volume":"9","author":"de Man","year":"1991","journal-title":"J Hypertens"},{"issue":"5","key":"2019041118064199800_B34","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.2337\/diacare.28.5.1245","article-title":"Defining and reporting hypoglycemia in diabetes: a report from the American Diabetes Association Workgroup on Hypoglycemia","volume":"28","author":"Workgroup on Hypoglycemia, American Diabetes Association","year":"2005","journal-title":"Diabetes Care"},{"issue":"5","key":"2019041118064199800_B35","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1007\/s00125-011-2418-8","article-title":"The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes","volume":"55","author":"Shields","year":"2012","journal-title":"Diabetologia"},{"issue":"S20","key":"2019041118064199800_B36","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/pedi.12192","article-title":"ISPAD clinical practice consensus guidelines 2014: the diagnosis and management of monogenic diabetes in children and adolescents","volume":"15","author":"Rubio-Cabezas","year":"2014","journal-title":"Pediatr Diabetes"},{"issue":"8","key":"2019041118064199800_B37","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/S2213-8587(18)30106-2","article-title":"Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study","volume":"6","author":"Bowman","year":"2018","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"2","key":"2019041118064199800_B38","doi-asserted-by":"crossref","first-page":"204","DOI":"10.2337\/dc07-1785","article-title":"Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations","volume":"31","author":"Rafiq","year":"2008","journal-title":"Diabetes Care"},{"issue":"3","key":"2019041118064199800_B39","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1210\/me.2005-0328","article-title":"Codependence of growth hormone-responsive, sexually dimorphic hepatic gene expression on signal transducer and activator of transcription 5b and hepatic nuclear factor 4\u03b1","volume":"20","author":"Holloway","year":"2006","journal-title":"Mol Endocrinol"},{"issue":"11","key":"2019041118064199800_B40","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.2337\/dc16-2462","article-title":"Diabetes, associated clinical spectrum, long-term prognosis, and genotype\/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects","volume":"40","author":"Dubois-Laforgue","year":"2017","journal-title":"Diabetes Care"},{"issue":"3","key":"2019041118064199800_B41","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.diabres.2011.09.011","article-title":"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","volume":"94","author":"Awa","year":"2011","journal-title":"Diabetes Res Clin Pract"},{"issue":"3","key":"2019041118064199800_B42","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1016\/j.diabres.2015.01.003","article-title":"Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: impact of access to genetic testing","volume":"107","author":"Mozzillo","year":"2015","journal-title":"Diabetes Res Clin Pract"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/104\/3\/845\/27661286\/jc.2018-01696.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,12]],"date-time":"2019-04-12T02:23:27Z","timestamp":1555035807000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/104\/3\/845\/5235618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,10]]},"references-count":42,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,12,10]]},"published-print":{"date-parts":[[2019,3,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2018-01696","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,3]]},"published":{"date-parts":[[2018,12,10]]}}}