Author:
Mackay Deborah,Bens Susanne,Perez de Nanclares Guiomar,Siebert Reiner,Temple I Karen
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference17 articles.
1. Temple IK, Mackay DJG, Docherty LE : Diabetes mellitus, 6q24-related transient neonatal.; In: Pagon RA, Adam MP, Bird TD et al. (eds.): GeneReviews™, (initial posting: 10 Oct 2005; updated 27 Sep 2012) University of Washington: Seattle, WA, USA, 1993–2013.
2. Docherty LE, Kabwama S, Lehmann A et al: 6q24 Transient Neonatal Diabetes Mellitus (6q24 TNDM)–clinical presentation and genotype phenotype correlation in an international cohort of cases. Diabetologia 2013; 56: 758–762.
3. Mackay DJ, Callaway JL, Marks SM et al: Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008; 40: 949–951.
4. Maupetit-Mehouas S, Azzi S, Steunou V et al: Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS Epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b. Hum Mutat 2013; 34: 1172–1180.
5. Metz C, Cavé H, Bertrand AM et al: Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J Pediatr 2002; 141: 483–489.
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17 articles.
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