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Buffin-Meyer, B, Richard, J, Guigonis, V, Weber, S, K\u00f6nig, J, Heidet, L, et al. HNF1B variant study group. Renal and extrarenal phenotypes in patients with <i>HNF1B<\/i> variants and chromosome 17q12 microdeletions. Kidney Int Rep 2024;9: 2514\u201326.","DOI":"10.1016\/j.ekir.2024.05.007"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Bonnefond, A, Semple, RK. Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes. Diabetologia 2022;65: 1782\u201395.","DOI":"10.1007\/s00125-022-05720-7"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Yorifuji, T, Watanabe, Y, Kitayama, K, Yamada, Y, Higuchi, S, Mori, J, et al. Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes. J Diabetes Investig 2023;14: 387\u2013403.","DOI":"10.1111\/jdi.13957"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Miyachi, Y, Miyazawa, T, Ogawa, Y. HNF1A mutations and beta cell dysfunction in diabetes. Int J Mol Sci 2022;23: 3222.","DOI":"10.3390\/ijms23063222"},{"key":"5","doi-asserted-by":"publisher","unstructured":"5. Ktistaki, E, Talianidis, I. Modulation of hepatic gene expression by hepatocyte nuclear factor 1. Science 1997;277: 109\u201312.","DOI":"10.1126\/science.277.5322.109"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Shih, DQ, Bussen, M, Sehayek, E, Ananthanarayanan, M, Shneider, BL, Suchy, FJ, et al. Hepatocyte nuclear factor-1\u03b1 is an essential regulator of bile acid and plasma cholesterol metabolism. Nat Genet 2001;27: 375\u201382.","DOI":"10.1038\/86871"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Rufibach, LE, Duncan, SA, Battle, M, Deeb, SS. 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Glucose-lowering effects and low risk of hypoglycemia in patients with maturity-onset diabetes of the young when treated with a GLP-1 receptor agonist: a double-blind, randomized, crossover trial. Diabetes Care 2014;37: 1797\u2013805.","DOI":"10.2337\/dc13-3007"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Christensen, AS, H\u00e6dersdal, S, St\u00f8y, J, Storgaard, H, Kampmann, U, Forman, JL, et al. Efficacy and safety of glimepiride with or without linagliptin treatment in patients with HNF1A diabetes (Maturity-onset diabetes of the young type 3): A randomized, double-blinded, placebo-controlled, crossover trial (GLIMLINA). Diabetes Care 2020;43: 2025\u201333.","DOI":"10.2337\/dc20-0408"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. McElreavey, K, Pailhoux, E, Bashamboo, A. DHX37 and 46,XY DSD: A new ribosomopathy? Sex Dev 2022;16: 194\u2013206.","DOI":"10.1159\/000522004"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. da Silva, TE, Gomes, NL, Ler\u00e1rio, AM, Keegan, CE, Nishi, MY, Carvalho, FM, et al. Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum. J Clin Endocrinol Metab 2019;104: 5923\u201334.","DOI":"10.1210\/jc.2019-00984"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Karaca, E, Harel, T, Pehlivan, D, Jhangiani, SN, Gambin, T, Coban Akdemir, Z, et al. Genes that affect brain structure and function identified by rare variant analyses of mendelian neurologic disease. Neuron 2015;88: 499\u2013513.","DOI":"10.1016\/j.neuron.2015.09.048"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Peng, H, Peng, W, Chen, J, Hu, K, Zhang, Y, Ma, Y, et al. Profile of <i>DHX37<\/i> gene defects in human genetic diseases: 46,XY disorders of sex development. 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Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex. J Biol Chem 2007;282: 13419\u201328.","DOI":"10.1074\/jbc.M609809200"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Krzyzewska, IM, Maas, SM, Henneman, P, Lip, KVD, Venema, A, Baranano, K, et al. A genome-wide DNA methylation signature for SETD1B-related syndrome. Clin Epigenetics 2019;11: 156.","DOI":"10.1186\/s13148-019-0649-6"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Labonne, JD, Lee, KH, Iwase, S, Kong, IK, Diamond, MP, Layman, LC, et al. An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. Hum Genet 2016;135: 757\u201371.","DOI":"10.1007\/s00439-016-1668-4"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Palumbo, O, Palumbo, P, Delvecchio, M, Palladino, T, Stallone, R, Crisetti, M, et al. Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms. Am J Med Genet A 2015;167A: 438\u201344.","DOI":"10.1002\/ajmg.a.36872"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Baple, E, Palmer, R, Hennekam, RCM. A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally. Mol Syndromol 2010;1: 42\u20135.","DOI":"10.1159\/000275671"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Chouery, E, Choucair, N, Abou Ghoch, J, El Sabbagh, S, Corbani, S, M\u00e9garban\u00e9, A. Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father. Mol Syndromol 2013;4: 136\u201342.","DOI":"10.1159\/000346473"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Verhoeven, WMA, Egger, JIM, van den Bergh, JPW, van Beek, R, Kleefstra, T, de Leeuw, N. 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De novo deletion in the 12q24.23q24.31 chromosomal region causing a neurodevelopmental syndrome in a female Saudi patient: A case report. Cureus 2025;17: e78141.","DOI":"10.7759\/cureus.78141"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Zhao, Q, Ding, L, Yang, Y, Sun, J, Wang, M, Li, X, et al. Clinical characteristics of patients with HNF1-alpha MODY: A literature review and retrospective chart review. Front Endocrinol (Lausanne) 2022;13: 900489.","DOI":"10.3389\/fendo.2022.900489"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Bacon, S, Kyithar, MP, Rizvi, SR, Donnelly, E, McCarthy, A, Burke, M, et al. Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort. Diabet Med 2016;33: 976\u201384.","DOI":"10.1111\/dme.12992"},{"key":"30","doi-asserted-by":"publisher","unstructured":"30. Shepherd, MH, Shields, BM, Hudson, M, Pearson, ER, Hyde, C, Ellard, S, et al. UNITED study. A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin. Diabetologia 2018;61: 2520\u20137.","DOI":"10.1007\/s00125-018-4728-6"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31. Becker, M, Galler, A, Raile, K. Meglitinide analogues in adolescent patients with HNF1A-MODY (MODY 3). Pediatrics 2014;133: e775\u20139.","DOI":"10.1542\/peds.2012-2537"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32. Zidoune, H, Martinerie, L, Tan, DS, Askari, M, Rezgoune, D, Ladjouze, A, et al. Expanding DSD phenotypes associated with variants in the DEAH-Box RNA helicase DHX37. Sex Dev 2021;15: 244\u201352.","DOI":"10.1159\/000515924"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33. Katoh-Fukui, Y, Saito, D, Narumi, H, Hattori, A, Igarashi, M, Uehara, E, et al. DHX37 variants in patients with 46,XY disorders or differences of sex development. 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