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Items: 1 to 20 of 126

1.

Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia.

Kalaivanan P, Arya VB, Shah P, Datta V, Flanagan SE, Mackay DJ, Ellard S, Senniappan S, Hussain K.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1065-9. doi: 10.1515/jpem-2014-0031.

PMID:
24859512
2.

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.

Senniappan S, Sadeghizadeh A, Flanagan SE, Ellard S, Hashemipour M, Hosseinzadeh M, Salehi M, Hussain K.

BMC Res Notes. 2015 Aug 13;8:350. doi: 10.1186/s13104-015-1319-1.

3.

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.

Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, Harmer SC, Shield JP, Tinker A, Ellard S, Hussain K.

Diabetologia. 2011 Oct;54(10):2575-83. doi: 10.1007/s00125-011-2207-4. Epub 2011 Jun 15.

4.

Molecular basis of neonatal diabetes in Japanese patients.

Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K.

J Clin Endocrinol Metab. 2007 Oct;92(10):3979-85. Epub 2007 Jul 17. Erratum in: J Clin Endocrinol Metab. 2008 Jan;93(1):153.

PMID:
17635943
5.
6.

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.

Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao JR, Carlés C, Fernández C, Fernández JM, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida JM, Gutiérrez A, López Siguero JP, Martínez-Aedo MJ, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L.

Diabet Med. 2007 Jul;24(7):707-13. Epub 2007 May 8.

PMID:
17490422
7.

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, de Kerdanet M, Stuckens C, Jennane F, Souchon PF, Le Tallec C, Désirée C, Pereira S, Dechaume A, Robert JJ, Phillip M, Scharfmann R, Czernichow P, Froguel P, Vaxillaire M, Polak M, Cavé H; French NDM study group.

Lancet Diabetes Endocrinol. 2013 Nov;1(3):199-207. doi: 10.1016/S2213-8587(13)70059-7. Epub 2013 Sep 6. Erratum in: Lancet Diabetes Endocrinol. 2013 Nov;1(3):e14.

PMID:
24622368
8.

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, Ellard S, Hattersley AT, Shield JP, Ennis S, Mackay DJ, Temple IK.

Diabetologia. 2013 Apr;56(4):758-62. doi: 10.1007/s00125-013-2832-1. Epub 2013 Feb 6.

PMID:
23385738
9.

Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.

Flanagan SE, Mackay DJ, Greeley SA, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, Flynn DP, Popovic J, Sperling MA, Hussain K, Ellard S, Hattersley AT.

Diabetologia. 2013 Jan;56(1):218-21. doi: 10.1007/s00125-012-2766-z. Epub 2012 Oct 31. No abstract available.

10.

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT.

Diabetes. 2007 Jul;56(7):1930-7. Epub 2007 Apr 19. Erratum in: Diabetes. 2008 Feb;57(2):523.

11.

Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age.

Arya VB, Flanagan SE, Kumaran A, Shield JP, Ellard S, Hussain K, Kapoor RR.

Arch Dis Child Fetal Neonatal Ed. 2013 Jul;98(4):F356-8. doi: 10.1136/archdischild-2012-302880. Epub 2013 Jan 29.

12.

Neonatal hyperglycaemia and abnormal development of the pancreas.

Flechtner I, Vaxillaire M, Cavé H, Scharfmann R, Froguel P, Polak M.

Best Pract Res Clin Endocrinol Metab. 2008 Feb;22(1):17-40. doi: 10.1016/j.beem.2007.08.003. Review.

PMID:
18279778
13.

Neonatal diabetes mellitus: a disease linked to multiple mechanisms.

Polak M, Cavé H.

Orphanet J Rare Dis. 2007 Mar 9;2:12. Review.

14.

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT.

Hum Mol Genet. 2005 Apr 1;14(7):925-34. Epub 2005 Feb 17.

15.

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.

Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, Ashcroft FM, Klimes I.

Diabetes Care. 2008 Sep;31(9):1736-7. doi: 10.2337/dc08-0549. Epub 2008 Jun 12.

16.

Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region.

Kant SG, van der Weij AM, Oostdijk W, Wit JM, Robinson DO, Temple IK, Mackay DJ.

Hum Genet. 2005 Aug;117(4):398-401. Epub 2005 May 28.

PMID:
15924231
17.

[Neonatal diabetes: a disease linked to multiple mechanisms].

Flechtner I, Vaxillaire M, Cavé H, Froguel P, Polak M.

Arch Pediatr. 2007 Nov;14(11):1356-65. Epub 2007 Oct 10. Review. French.

PMID:
17931842
18.

Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds.

Zhang M, Chen X, Shen S, Li T, Chen L, Hu M, Cao L, Cheng R, Zhao Z, Luo F.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):877-84. doi: 10.1515/jpem-2014-0429.

PMID:
25781672
19.

Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.

Greeley SA, Naylor RN, Philipson LH, Bell GI.

Curr Diab Rep. 2011 Dec;11(6):519-32. doi: 10.1007/s11892-011-0234-7. Review.

20.

Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.

Mohamed Z, Arya VB, Hussain K.

J Clin Res Pediatr Endocrinol. 2012 Dec;4(4):169-81. doi: 10.4274/jcrpe.821. Epub 2012 Oct 2. Review.

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