PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Genomics & Informatics10.5808/gi.2014.12.4.2402014124240Identification and Functional Characterization of P159L Mutation inHNF1Bin a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)Eun Ky Kim, Ji Seon Lee, Hae Il Cheong, Sung Soo Chung, Soo Heon Kwak, Kyong Soo Parkhttp://synapse.koreamed.org/DOIx.php?id=10.5808/GI.2014.12.4.240
Diabetes10.2337/db20-1658-p202069Supplement_11658-P: A Novel Mutation in Hepatocyte Nuclear Factor-1 Beta (HNF1B) in Maturity-Onset Diabetes of the Young 5 (MODY5)YUKI FUJITA, TAKANORI HYO, MIHO MATSUBARA, YOSHIYUKI HAMAMOTO, DAISUKE TANAKA, YUTAKA SEINOhttps://diabetesjournals.org/diabetes/article/69/Supplement_1/1658-P/56167/1658-P-A-Novel-Mutation-in-Hepatocyte-Nuclear, https://diabetesjournals.org/diabetes/article/69/Supplement_1/1658-P/56167/1658-P-A-Novel-Mutation-in-Hepatocyte-Nuclear
Clinical Diabetes and Endocrinology10.1186/s40842-020-00103-6202061Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature reviewJuan Camilo Mateus, Carolina Rivera, Miguel O’Meara, Alex Valenzuela, Fernando Lizcanohttps://link.springer.com/content/pdf/10.1186/s40842-020-00103-6.pdf, https://link.springer.com/article/10.1186/s40842-020-00103-6/fulltext.html, https://link.springer.com/content/pdf/10.1186/s40842-020-00103-6.pdf
10.21203/rs.3.rs-964266/v12021A Maturity-Onset Diabetes of The Young (MODY) 5 Young Woman With HNF1B Heterozygosity Missing Based On 17q12 Recurrent Deletion SyndromeYing Cheng, Da-Peng Zhong, Li Ren, Hang Yang, Chen-Fu Tianhttps://www.researchsquare.com/article/rs-964266/v1, https://www.researchsquare.com/article/rs-964266/v1.html
Human Mutation10.1002/humu.90502002203230-231Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4ACarole T. Monney, Val�rie Kaltenrieder, Pascal Cousin, Christophe Bonny, Daniel F. Schorderethttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.9050, https://onlinelibrary.wiley.com/doi/full/10.1002/humu.9050
Acta Paediatrica10.1111/j.1651-2227.1998.tb01550.x2007878853-856A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the youngPR Njølstad, BN Cockburn, GI Bell, O Søvikhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1651-2227.1998.tb01550.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.1998.tb01550.x/fullpdf
Diabetic Medicine10.1111/j.1464-5491.2012.03709.x2012301114-117HNF1Bdeletions in patients with young-onset diabetes but no known renal diseaseE. L. Edghill, K. Stals, R. A. Oram, M. H. Shepherd, A. T. Hattersley, S. Ellardhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1464-5491.2012.03709.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1464-5491.2012.03709.x/fullpdf
Diabetologia10.1007/s00125005151420004391203-1203R127W in HNF4? is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian familyNot Available Not Availablehttp://link.springer.com/content/pdf/10.1007/s001250051514.pdf, http://link.springer.com/article/10.1007/s001250051514/fulltext.html, http://link.springer.com/content/pdf/10.1007/s001250051514
AACE Clinical Case Reports10.4158/accr-2020-0161202065e243-e246Early Onset of Mody5 Due to Haploinsufficiency of HNF1BCarmen Bustamante, Janine Sanchez, Tossaporn Seeherunvong, Supamit Ukaraponghttps://api.elsevier.com/content/article/PII:S2376060520306209?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S2376060520306209?httpAccept=text/plain
10.21203/rs.3.rs-145066/v12021NEUROD1 Mutation in an Italian Patient With Maturity Onset Diabetes of the Young 6: a Case ReportLucia Brodosi, Bianca Baracco, Vilma Mantovani, Loris Pironihttps://www.researchsquare.com/article/rs-145066/v1, https://www.researchsquare.com/article/rs-145066/v1.html