메뉴 건너뛰기




Volumn 22, Issue 9, 2014, Pages 1153-

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTIC METHOD; ARTICLE; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HUMAN; NEWBORN DIABETES MELLITUS; PREDICTIVE VALUE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; 6Q24 TRANSIENT NEONATAL DIABETES MELLITUS; BLOOD GLUCOSE MONITORING; CLINICAL FEATURE; DIABETES MELLITUS; DNA DETERMINATION; DNA METHYLATION; GENE MUTATION; GENETIC COUNSELING; HLA SYSTEM; KARYOTYPING; LOW BIRTH WEIGHT; NEWBORN; PRENATAL DIAGNOSIS; PYROSEQUENCING; RECURRENCE RISK; RISK ASSESSMENT; SHORT TANDEM REPEAT; UNIPARENTAL DISOMY; CHROMOSOME 6; DIABETES MELLITUS, TYPE 1; GENETICS; INFANT;

EID: 84906227569     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.27     Document Type: Article
Times cited : (22)

References (17)
  • 1
    • 84876480059 scopus 로고
    • Diabetes mellitus, 6q24-related transient neonatal
    • Pagon RA, Adam MP, Bird TD et al: (eds.), (initial posting: 10 Oct 2005; updated 27 Sep 2012) University of Washington: Seattle, WA, USA
    • Temple IK, Mackay DJG, Docherty LE: Diabetes mellitus, 6q24-related transient neonatal. In: Pagon RA, Adam MP, Bird TD et al: (eds.) GeneReviewst, (initial posting: 10 Oct 2005; updated 27 Sep 2012) University of Washington: Seattle, WA, USA, 1993-2013.
    • (1993) GeneReviewst
    • Temple, I.K.1    Djg, M.2    Docherty, L.E.3
  • 2
    • 84876482998 scopus 로고    scopus 로고
    • 6q24 Transient Neonatal Diabetes Mellitus (6q24 TNDM)-clinical presentation and genotype phenotype correlation in an international cohort of cases
    • 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.
    • (2013) Diabetologia , vol.56 , pp. 758-762
    • Docherty, L.E.1    Kabwama, S.2    Lehmann, A.3
  • 3
    • 48349092985 scopus 로고    scopus 로고
    • Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    • 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.
    • (2008) Nat Genet , vol.40 , pp. 949-951
    • Mackay, D.J.1    Callaway, J.L.2    Marks, S.M.3
  • 4
    • 84880509448 scopus 로고    scopus 로고
    • Simultaneous hyper-And hypomethyla-tion at imprinted loci in a subset of patients with GNAS Epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypopar-Athyroidism type 1b
    • Maupetit-Mehouas S, Azzi S, Steunou V et al: Simultaneous hyper-And hypomethyla-tion at imprinted loci in a subset of patients with GNAS Epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypopar-Athyroidism type 1b. Hum Mutat 2013; 34: 1172-1180.
    • (2013) Hum Mutat , vol.34 , pp. 1172-1180
    • Maupetit-Mehouas, S.1    Azzi, S.2    Steunou, V.3
  • 5
    • 0036797965 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus: Chromosomal analysis in transient and permanent cases
    • Metz C, Cavé H, Bertrand AM et al: Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J Pediatr 2002; 141: 483-489.
    • (2002) J Pediatr , vol.141 , pp. 483-489
    • Metz, C.1    Cavé, H.2    Bertrand, A.M.3
  • 6
    • 84860570025 scopus 로고    scopus 로고
    • Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci
    • Begemann M, Leisten I, Soellner L et al: Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci. Epigenetics 2012; 7: 473-481.
    • (2012) Epigenetics , vol.7 , pp. 473-481
    • Begemann, M.1    Leisten, I.2    Soellner, L.3
  • 7
    • 57149119291 scopus 로고    scopus 로고
    • Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus
    • Martin-Subero JI, Bibikova M, Mackay D et al: Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus. Am J Med Genet A 2008; 146A: 3227-3229.
    • (2008) Am J Med Genet A , vol.146 A , pp. 3227-3229
    • Martin-Subero, J.I.1    Bibikova, M.2    Mackay, D.3
  • 8
    • 77952706373 scopus 로고    scopus 로고
    • Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register
    • Wiedemann B, Schober E, Waldhoer T et al: Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes 2010; 11: 18-23.
    • (2010) Pediatr Diabetes , vol.11 , pp. 18-23
    • Wiedemann, B.1    Schober, E.2    Waldhoer, T.3
  • 9
    • 70349578557 scopus 로고    scopus 로고
    • The diagnosis and management of monogenic diabetes in children and adolescents
    • Hattersley A, Bruining J, Shield J et al: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2009; 10: S33-S42.
    • (2009) Pediatr Diabetes , vol.10
    • Hattersley, A.1    Bruining, J.2    Shield, J.3
  • 10
    • 34247880183 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus: A disease linked to multiple mechanisms
    • Polak M, Cavé H: Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis 2007; 2: 12.
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 12
    • Polak, M.1    Cavé, H.2
  • 11
    • 34347387276 scopus 로고    scopus 로고
    • Mutations in KATP channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
    • Flanagan SE, Patch A, Mackay DJG et al: Mutations in KATP channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007; 56: 1930-1937.
    • (2007) Diabetes , vol.56 , pp. 1930-1937
    • Flanagan, S.E.1    Patch, A.2    Djg, M.3
  • 12
    • 4644256595 scopus 로고    scopus 로고
    • Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon
    • Valerio G, Franzese A, Salerno M et al: Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon. Diabetes Care 2004; 27: 2405-2408.
    • (2004) Diabetes Care , vol.27 , pp. 2405-2408
    • Valerio, G.1    Franzese, A.2    Salerno, M.3
  • 13
    • 84874435499 scopus 로고    scopus 로고
    • Transient neonatal diabetes, ZFP57 and hypomethylation of multiple imprinted loci: A detailed follow-up
    • Boonen SE, Mackay DJ, Hahnemann JM et al: Transient neonatal diabetes, ZFP57 and hypomethylation of multiple imprinted loci: a detailed follow-up. Diabetes Care 2013; 36: 505-512.
    • (2013) Diabetes Care , vol.36 , pp. 505-512
    • Boonen, S.E.1    Mackay, D.J.2    Hahnemann, J.M.3
  • 14
    • 0033860008 scopus 로고    scopus 로고
    • Transient neonatal diabetes: Widening the understanding of the etiopathogenesis of diabetes
    • Temple IK, Gardner RJ, Mackay DJ et al: Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000; 49: 1359-1366.
    • (2000) Diabetes , vol.49 , pp. 1359-1366
    • Temple, I.K.1    Gardner, R.J.2    Mackay, D.J.3
  • 15
    • 52649099443 scopus 로고    scopus 로고
    • Diagnosis and treatment of neonatal diabetes: A United States experience
    • United States Neonatal Diabetes Working Group
    • Støy J, Greeley SA, Paz VP et al: United States Neonatal Diabetes Working Group. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes 2008; 9: 450-459.
    • (2008) Pediatr Diabetes , vol.9 , pp. 450-459
    • Støy, J.1    Greeley, S.A.2    Paz, V.P.3
  • 16
    • 3042749597 scopus 로고    scopus 로고
    • An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission
    • Shield JP, Temple IK, Sabin M et al: An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. Arch Dis Child Fetal Neonatal Ed 2004; 89: F341-F343.
    • (2004) Arch Dis Child Fetal Neonatal Ed , vol.89
    • Shield, J.P.1    Temple, I.K.2    Sabin, M.3
  • 17
    • 84871612732 scopus 로고    scopus 로고
    • Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: Expanding the clinical pheno-type
    • Flanagan SE, Mackay DJ, Greeley SA et al: Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical pheno-type. Diabetologia 2013; 56: 218-221.
    • (2013) Diabetologia , vol.56 , pp. 218-221
    • Flanagan, S.E.1    Mackay, D.J.2    Greeley, S.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.