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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 2
2002 1
2003 2
2005 2
2006 1
2007 1
2008 2
2009 2
2010 2
2011 2
2012 4
2013 3
2014 5
2015 1
2016 2
2017 3
2018 1
2019 5
2020 2
2021 2
2022 2
2023 1
2024 1

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41 results

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Page 1
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL. Osbak KK, et al. Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Hum Mutat. 2009. PMID: 19790256 Review.
The identification of a GCK mutation in patients with both hyper- and hypoglycemia has implications for the clinical course and clinical management of their disorder....
The identification of a GCK mutation in patients with both hyper- and hypoglycemia has implications for the clinical course and clini …
Monogenic Forms of Diabetes Mellitus.
Gaál Z, Balogh I. Gaál Z, et al. Exp Suppl. 2019;111:385-416. doi: 10.1007/978-3-030-25905-1_18. Exp Suppl. 2019. PMID: 31588541 Review.
More than a dozen MODY genes have been identified to date, and their molecular classification is of great importance in the correct treatment decision and in the judgment of the prognosis. The most prevalent subtypes are HNF1A, GCK, and HNF4A. Genetic testing for MODY has …
More than a dozen MODY genes have been identified to date, and their molecular classification is of great importance in the correct treatmen …
Permanent neonatal diabetes mellitus in Jordan.
Abujbara MA, Liswi MI, El-Khateeb MS, Flanagan SE, Ellard S, Ajlouni KM. Abujbara MA, et al. J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):879-83. doi: 10.1515/jpem-2014-0069. J Pediatr Endocrinol Metab. 2014. PMID: 24825091
Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.
Laimon W, El-Ziny M, El-Hawary A, Elsharkawy A, Salem NA, Aboelenin HM, Awad MH, Flanagan SE, De Franco E. Laimon W, et al. Acta Diabetol. 2021 Dec;58(12):1689-1700. doi: 10.1007/s00592-021-01788-6. Epub 2021 Aug 23. Acta Diabetol. 2021. PMID: 34426871
All patients with K(ATP) channel mutations were effectively treated with glyburide, reflecting the fact that genetic testing for patients with NDM is not only important for diagnosis but also for treatment plan and prognosis....
All patients with K(ATP) channel mutations were effectively treated with glyburide, reflecting the fact that genetic testing for patients wi …
Permanent Neonatal Diabetes (DEND Syndrome).
Khan SA, Parkash A, Ibrahim M. Khan SA, et al. J Coll Physicians Surg Pak. 2016 Nov;26(11):114-115. J Coll Physicians Surg Pak. 2016. PMID: 28666500
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.
Kanakatti Shankar R, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, Ellard S, Gilliam LK; SEARCH for Diabetes in Youth Study Group. Kanakatti Shankar R, et al. Pediatr Diabetes. 2013 May;14(3):174-80. doi: 10.1111/pedi.12003. Epub 2012 Oct 10. Pediatr Diabetes. 2013. PMID: 23050777 Free PMC article.
The quality of reporting in case reports of permanent neonatal diabetes mellitus: a cross-sectional study.
Jia P, Wang L, Yang X, Pei W, Xu C, Feng J, Han Y. Jia P, et al. BMC Med Res Methodol. 2024 May 20;24(1):117. doi: 10.1186/s12874-024-02226-1. BMC Med Res Methodol. 2024. PMID: 38769533 Free PMC article.
Linear and logistic regression analyses were used to examine the connection between five pre-specified predictor variables and the reporting quality. The predictor variables were impact factor of the published journal (<3.4 vs. 3.4, categorized according to the m …
Linear and logistic regression analyses were used to examine the connection between five pre-specified predictor variables and the re …
41 results