Genetic Conditions > 6q24-related transient neonatal diabetes mellitus >

References

These sources were used to develop the Genetics Home Reference condition summary on 6q24-related transient neonatal diabetes mellitus.

Barbetti F. Diagnosis of neonatal and infancy-onset diabetes. Endocr Dev. 2007;11:83-93. Review. PubMed citation
Diatloff-Zito C, Nicole A, Marcelin G, Labit H, Marquis E, Bellanné-Chantelot C, Robert JJ. Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region. J Med Genet. 2007 Jan;44(1):31-7. Epub 2006 Sep 13. PubMed citation
Docherty LE, Poole RL, Mattocks CJ, Lehmann A, Temple IK, Mackay DJ. Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes. Diabetologia. 2010 Nov;53(11):2347-51. doi: 10.1007/s00125-010-1853-2. Epub 2010 Jul 30. PubMed citation
Gene Review: Diabetes Mellitus, 6q24-Related Transient Neonatal
Greeley SA, Tucker SE, Worrell HI, Skowron KB, Bell GI, Philipson LH. Update in neonatal diabetes. Curr Opin Endocrinol Diabetes Obes. 2010 Feb;17(1):13-9. doi: 10.1097/MED.0b013e328334f158. Review. PubMed citation
Mackay DJ, Boonen SE, Clayton-Smith J, Goodship J, Hahnemann JM, Kant SG, Njølstad PR, Robin NH, Robinson DO, Siebert R, Shield JP, White HE, Temple IK. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet. 2006 Sep;120(2):262-9. Epub 2006 Jul 1. PubMed citation
Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet. 2008 Aug;40(8):949-51. doi: 10.1038/ng.187. Epub 2008 Jul 11. PubMed citation
Mackay DJ, Temple IK. Transient neonatal diabetes mellitus type 1. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):335-42. doi: 10.1002/ajmg.c.30272. Review. PubMed citation
Temple IK, Shield JP. 6q24 transient neonatal diabetes. Rev Endocr Metab Disord. 2010 Sep;11(3):199-204. doi: 10.1007/s11154-010-9150-4. Review. PubMed citation
Temple IK, Shield JP. Transient neonatal diabetes, a disorder of imprinting. J Med Genet. 2002 Dec;39(12):872-5. Review. PubMed citation
Temple IK. Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome. Endocr Dev. 2007;12:113-23. Review. PubMed citation


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