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Results: 1 to 20 of 133

1.

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

Mackay DJ, Temple IK, Shield JP, Robinson DO.

Hum Genet. 2005 Mar;116(4):255-61. Epub 2005 Jan 6.

PMID:
15635480
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Diabetes Mellitus, 6q24-Related Transient Neonatal.

Temple IK, Mackay DJG, Docherty LE.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2005 Oct 10 [updated 2015 Jan 15].

5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.

Arima T, Drewell RA, Arney KL, Inoue J, Makita Y, Hata A, Oshimura M, Wake N, Surani MA.

Hum Mol Genet. 2001 Jul 1;10(14):1475-83.

PMID:
11448939
[PubMed - indexed for MEDLINE]
Free Article
8.

A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC.

Arima T, Drewell RA, Oshimura M, Wake N, Surani MA.

Genomics. 2000 Aug 1;67(3):248-55.

PMID:
10936046
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.

Mackay DJ, Coupe AM, Shield JP, Storr JN, Temple IK, Robinson DO.

Hum Genet. 2002 Feb;110(2):139-44. Epub 2002 Jan 24.

PMID:
11935319
[PubMed - indexed for MEDLINE]
13.

Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus.

Varrault A, Bilanges B, Mackay DJ, Basyuk E, Ahr B, Fernandez C, Robinson DO, Bockaert J, Journot L.

J Biol Chem. 2001 Jun 1;276(22):18653-6. Epub 2001 Apr 10.

PMID:
11297535
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
15.

Transient neonatal diabetes, a disorder of imprinting.

Temple IK, Shield JP.

J Med Genet. 2002 Dec;39(12):872-5. Review.

PMID:
12471198
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach.

Gloyn AL, Mackay DJ, Weedon MN, McCarthy MI, Walker M, Hitman G, Knight BA, Owen KR, Hattersley AT, Frayling TM.

Diabetes. 2006 Aug;55(8):2272-6.

PMID:
16873690
[PubMed - indexed for MEDLINE]
Free Article
17.

The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes.

Kamiya M, Judson H, Okazaki Y, Kusakabe M, Muramatsu M, Takada S, Takagi N, Arima T, Wake N, Kamimura K, Satomura K, Hermann R, Bonthron DT, Hayashizaki Y.

Hum Mol Genet. 2000 Feb 12;9(3):453-60.

PMID:
10655556
[PubMed - indexed for MEDLINE]
Free Article
18.

Construction of 700 human/mouse A9 monochromosomal hybrids and analysis of imprinted genes on human chromosome 6.

Inoue J, Mitsuya K, Maegawa S, Kugoh H, Kadota M, Okamura D, Shinohara T, Nishihara S, Takehara S, Yamauchi K, Schulz TC, Oshimura M.

J Hum Genet. 2001;46(3):137-45.

PMID:
11310581
[PubMed - indexed for MEDLINE]
19.

Refinement of the 6q chromosomal region implicated in transient neonatal diabetes.

Cavé H, Polak M, Drunat S, Denamur E, Czernichow P.

Diabetes. 2000 Jan;49(1):108-13.

PMID:
10615957
[PubMed - indexed for MEDLINE]
20.

Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.

Milenkovic T, Martic J, Robinson DO, Mackay DJ, Petrovic K, Zdravkovic D.

J Pediatr Endocrinol Metab. 2006 Nov;19(11):1353-7.

PMID:
17220064
[PubMed - indexed for MEDLINE]

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