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Volumn 105, Issue 1 I, 2000, Pages 49-52

Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6

Author keywords

Chromosome 6; Imprinted gene; Transient neonatal diabetes mellitus; Uniparental disomy

Indexed keywords

AUTOANTIBODY; INSULIN; PANCREAS ISLET CELL ANTIBODY;

EID: 0033962830     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.105.1.49     Document Type: Article
Times cited : (49)

References (23)
  • 3
    • 0028292032 scopus 로고
    • Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus
    • Abramowicz MJ, Andrien M, Dupont E, et al. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest. 1994;94: 418-421
    • (1994) J Clin Invest. , vol.94 , pp. 418-421
    • Abramowicz, M.J.1    Andrien, M.2    Dupont, E.3
  • 4
    • 0030873772 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus
    • Hermann R, Soltész G. Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus. Eur J Pediatr. 1997;156:740
    • (1997) Eur J Pediatr. , vol.156 , pp. 740
    • Hermann, R.1    Soltész, G.2
  • 6
    • 0018939994 scopus 로고
    • A new genetic concept: Uniparental isodisomy and its potential effect, isodisomy
    • Engel E. A new genetic concept: uniparental isodisomy and its potential effect, isodisomy. Am J Med Genet. 1980;6:137-143
    • (1980) Am J Med Genet. , vol.6 , pp. 137-143
    • Engel, E.1
  • 8
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16: 1215
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 9
    • 0029042730 scopus 로고
    • Triple-label hybridization assay for type-1 diabetes-related HLA alleles
    • Sjöroos M, Iitiö A, Ilonen J, Reijonen H, Lövgren T. Triple-label hybridization assay for type-1 diabetes-related HLA alleles. Biotechniques. 1995; 18:870-877
    • (1995) Biotechniques , vol.18 , pp. 870-877
    • Sjöroos, M.1    Iitiö, A.2    Ilonen, J.3    Reijonen, H.4    Lövgren, T.5
  • 10
    • 0024997309 scopus 로고
    • Uniparental isodisomy 6 associated with deficiency of the fourth component of complement
    • Welch TR, Beischel LS, Choi E, Balakrishnan K, Bishof NA. Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. J Clin Invest. 1990;86:675-678
    • (1990) J Clin Invest. , vol.86 , pp. 675-678
    • Welch, T.R.1    Beischel, L.S.2    Choi, E.3    Balakrishnan, K.4    Bishof, N.A.5
  • 11
  • 12
    • 0029794055 scopus 로고    scopus 로고
    • Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23
    • Temple IK, Gardner RJ, Robinson DO et al. Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23. Hum Mol Genet. 1996;5:1117-1121
    • (1996) Hum Mol Genet. , vol.5 , pp. 1117-1121
    • Temple, I.K.1    Gardner, R.J.2    Robinson, D.O.3
  • 14
    • 0343655282 scopus 로고    scopus 로고
    • Transient neonatal diabetes mellitus associated with paternal uniparental isodisomy of chromosome 6
    • Rich BH, Christian S, Ledbetter D, Spiro R, Rosenfield RL. Transient neonatal diabetes mellitus associated with paternal uniparental isodisomy of chromosome 6. Horm Res. 1997;48:156. Supplement
    • (1997) Horm Res. , vol.48 , Issue.SUPPLEMENT , pp. 156
    • Rich, B.H.1    Christian, S.2    Ledbetter, D.3    Spiro, R.4    Rosenfield, R.L.5
  • 15
    • 0031057955 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy for chromosome 6 causes transient neonatal diabetes
    • Whiteford ML, Narendra A, White MP, et al. Paternal uniparental isodisomy for chromosome 6 causes transient neonatal diabetes. J Med Genet. 1997;34:167-168
    • (1997) J Med Genet. , vol.34 , pp. 167-168
    • Whiteford, M.L.1    Narendra, A.2    White, M.P.3
  • 16
    • 0027384997 scopus 로고
    • IPF1, a homeodomain-containing transactivator of the insulin gene
    • Olsson H, Karlsson K, Edlund T. IPF1, a homeodomain-containing transactivator of the insulin gene. EMBO J. 1993;12:4251-4259
    • (1993) EMBO J. , vol.12 , pp. 4251-4259
    • Olsson, H.1    Karlsson, K.2    Edlund, T.3
  • 17
    • 0028149890 scopus 로고
    • Insulin-promoter-factor is required for pancreas development in mice
    • Jonsson J, Carlsson L, Edlund T, Edlund H. Insulin-promoter-factor is required for pancreas development in mice. Nature. 1994;371:606-609
    • (1994) Nature , vol.371 , pp. 606-609
    • Jonsson, J.1    Carlsson, L.2    Edlund, T.3    Edlund, H.4
  • 18
    • 0029868156 scopus 로고    scopus 로고
    • PDX-1 is required for pancreatic outgrowth and differentiation of the rostral duodenum
    • Offield MF, Jetton TL, Labosky PA, et al. PDX-1 is required for pancreatic outgrowth and differentiation of the rostral duodenum. Development. 1996;122:983-995
    • (1996) Development , vol.122 , pp. 983-995
    • Offield, M.F.1    Jetton, T.L.2    Labosky, P.A.3
  • 19
    • 0031031571 scopus 로고    scopus 로고
    • Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence
    • Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JL. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet. 1997;15:106-110
    • (1997) Nat Genet. , vol.15 , pp. 106-110
    • Stoffers, D.A.1    Zinkin, N.T.2    Stanojevic, V.3    Clarke, W.L.4    Habener, J.L.5
  • 20
    • 0029147665 scopus 로고
    • Affected-sib-pair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-q27
    • Luo D, Bui MM, Muir A, Maclaren NK, Thomson G, She J. Affected-sib-pair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-q27. Am J Hum Genet. 1995;57:911-919
    • (1995) Am J Hum Genet. , vol.57 , pp. 911-919
    • Luo, D.1    Bui, M.M.2    Muir, A.3    Maclaren, N.K.4    Thomson, G.5    She, J.6
  • 21
    • 9244244764 scopus 로고    scopus 로고
    • Confirmation of three susceptibility genes to insulin dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8
    • Luo DF, Buzzetti R, Rotter JI, et al. Confirmation of three susceptibility genes to insulin dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8. Hum Mol Genet. 1996;5:693-698
    • (1996) Hum Mol Genet. , vol.5 , pp. 693-698
    • Luo, D.F.1    Buzzetti, R.2    Rotter, J.I.3
  • 22
    • 0030037866 scopus 로고    scopus 로고
    • Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes
    • Davies JL, Cucca F, Goy JV, et al. Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes. Hum Mol Genet. 1996;5: 1071-1074
    • (1996) Hum Mol Genet. , vol.5 , pp. 1071-1074
    • Davies, J.L.1    Cucca, F.2    Goy, J.V.3
  • 23
    • 16944367291 scopus 로고    scopus 로고
    • Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA in chromosome 6
    • Delepine M, Pociot F, Habita C, et al. Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA in chromosome 6. Am J Hum Genet. 1997;60:174-187
    • (1997) Am J Hum Genet. , vol.60 , pp. 174-187
    • Delepine, M.1    Pociot, F.2    Habita, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.