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Items: 1 to 20 of 95

1.

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins.

Laborie LB, Mackay DJ, Temple IK, Molven A, Søvik O, Njølstad PR.

Eur J Pediatr. 2010 Feb;169(2):207-13. doi: 10.1007/s00431-009-1008-y. Epub 2009 Jun 13.

PMID:
19521719
2.
3.

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.

Bak M, Boonen SE, Dahl C, Hahnemann JM, Mackay DJ, Tümer Z, Grønskov K, Temple IK, Guldberg P, Tommerup N.

BMC Med Genet. 2016 Apr 14;17:29. doi: 10.1186/s12881-016-0292-4.

4.

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
5.

Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.

Boyraz M, Ulucan K, Taşkın N, Akçay T, Flanagan SE, Mackay DJ.

J Clin Res Pediatr Endocrinol. 2013;5(2):125-8. doi: 10.4274/Jcrpe.928.

6.

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
7.

Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia.

Suzuki S, Fujisawa D, Hashimoto K, Asano T, Maimaiti M, Matsuo K, Tanahashi Y, Mukai T, Fujieda K.

Clin Genet. 2010 Dec;78(6):580-4. doi: 10.1111/j.1399-0004.2010.01433.x.

PMID:
20412110
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.

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
10.

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

Boonen SE, Pörksen S, Mackay DJ, Oestergaard E, Olsen B, Brondum-Nielsen K, Temple IK, Hahnemann JM.

Eur J Hum Genet. 2008 Apr;16(4):453-61. doi: 10.1038/sj.ejhg.5201993. Epub 2008 Jan 16.

11.

No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.

Schönherr N, Meyer E, Binder G, Wollmann HA, Eggermann T.

J Pediatr Endocrinol Metab. 2007 Dec;20(12):1329-31.

PMID:
18341093
12.

Diabetes Mellitus, 6q24-Related Transient Neonatal.

Temple IK, Mackay DJG, Docherty LE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Oct 10 [updated 2015 Jan 15].

13.

Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.

Deeb A, Habeb A, Kaplan W, Attia S, Hadi S, Osman A, Al-Jubeh J, Flanagan S, DeFranco E, Ellard S.

Am J Med Genet A. 2016 Mar;170(3):602-9. doi: 10.1002/ajmg.a.37419. Epub 2015 Oct 13.

PMID:
26463504
14.

An imprinted locus associated with transient neonatal diabetes mellitus.

Gardner RJ, Mackay DJ, Mungall AJ, Polychronakos C, Siebert R, Shield JP, Temple IK, Robinson DO.

Hum Mol Genet. 2000 Mar 1;9(4):589-96.

PMID:
10699182
15.

Epidemiology, clinical characteristics, and genetic etiology of neonatal diabetes in Japan.

Nagashima K, Tanaka D, Inagaki N.

Pediatr Int. 2017 Feb;59(2):129-133. doi: 10.1111/ped.13199. Review.

PMID:
27809389
16.

Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes.

Yorifuji T, Matsubara K, Sakakibara A, Hashimoto Y, Kawakita R, Hosokawa Y, Fujimaru R, Murakami A, Tamagawa N, Hatake K, Nagasaka H, Suzuki J, Urakami T, Izawa M, Kagami M.

Diabet Med. 2015 Jul;32(7):963-7. doi: 10.1111/dme.12758. Epub 2015 Apr 11.

PMID:
25809823
17.

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Demirbilek H, Arya VB, Ozbek MN, Houghton JA, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, Hattersley AT, Ellard S, Hussain K.

Eur J Endocrinol. 2015 Jun;172(6):697-705. doi: 10.1530/EJE-14-0852. Epub 2015 Mar 9.

18.

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.

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.

Hum Genet. 2006 Sep;120(2):262-9. Epub 2006 Jul 1.

PMID:
16816970
19.

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
20.

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.

Mackay DJ, Hahnemann JM, Boonen SE, Poerksen S, Bunyan DJ, White HE, Durston VJ, Thomas NS, Robinson DO, Shield JP, Clayton-Smith J, Temple IK.

Hum Genet. 2006 Mar;119(1-2):179-84. Epub 2006 Jan 5.

PMID:
16402210

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