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Volumn 149, Issue 3, 2005, Pages 139-143

Molecular diagnostics on indication of maturity onset diabetes of the young; results from 184 patients;Moleculaire diagnostiek bij aanwijzingen voor 'maturity onset diabetes of the young'; resultaten bij 184 patiënten

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; NUCLEAR FACTOR I;

EID: 12244259734     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (23)
  • 1
    • 0031914679 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity
    • Hattersley AT. Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabet Med 1998;15: 15-24.
    • (1998) Diabet Med , vol.15 , pp. 15-24
    • Hattersley, A.T.1
  • 2
    • 0035859581 scopus 로고    scopus 로고
    • Van gen naar ziekte; 'maturity-onset diabetes of the young' (MODY), monogenetisch overervende vormen van diabetes mellitus
    • Maassen JA, Lemkes HHPJ, Losekoot M. Van gen naar ziekte; 'maturity-onset diabetes of the young' (MODY), monogenetisch overervende vormen van diabetes mellitus. Ned Tijdschr Geneeskd 2001; 145:1352-3.
    • (2001) Ned Tijdschr Geneeskd , vol.145 , pp. 1352-1353
    • Maassen, J.A.1    Lemkes, H.H.P.J.2    Losekoot, M.3
  • 3
    • 0026906885 scopus 로고
    • Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • Ouweland JM van den, Lemkes HH, Ruitenbeek W, Sandkuijl LA, Vijlder MF de, Struyvenberg PA, et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992;1:368-71.
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Ruitenbeek, W.3    Sandkuijl, L.A.4    De Vijlder, M.F.5    Struyvenberg, P.A.6
  • 4
    • 0026462744 scopus 로고
    • Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
    • Reardon W, Ross RJ, Sweeney MG, Luxon LM, Pembrey ME, Harding AE, et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992;340:1376-9.
    • (1992) Lancet , vol.340 , pp. 1376-1379
    • Reardon, W.1    Ross, R.J.2    Sweeney, M.G.3    Luxon, L.M.4    Pembrey, M.E.5    Harding, A.E.6
  • 5
    • 0035897898 scopus 로고    scopus 로고
    • Van gen naar ziekte; mutatie in mitochondrieel DNA en maternaal overervende diabetes mellitus met doofheid (MIDD)
    • Maassen JA, Ouweland JMW van den, Losekoot M, Lemkes HHPJ. Van gen naar ziekte; mutatie in mitochondrieel DNA en maternaal overervende diabetes mellitus met doofheid (MIDD). Ned Tijdschr Geneeskd 2001;145:1153-4.
    • (2001) Ned Tijdschr Geneeskd , vol.145 , pp. 1153-1154
    • Maassen, J.A.1    Van Den Ouweland, J.M.W.2    Losekoot, M.3    Lemkes, H.H.P.J.4
  • 6
    • 0026562918 scopus 로고
    • Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependant diabetes mellitus
    • Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependant diabetes mellitus. Nature 1992;356:721-2.
    • (1992) Nature , vol.356 , pp. 721-722
    • Vionnet, N.1    Stoffel, M.2    Takeda, J.3    Yasuda, K.4    Bell, G.I.5    Zouali, H.6
  • 11
    • 0032700272 scopus 로고    scopus 로고
    • Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus
    • Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 1999;23:323-8.
    • (1999) Nat Genet , vol.23 , pp. 323-328
    • Malecki, M.T.1    Jhala, U.S.2    Antonellis, A.3    Fields, L.4    Doria, A.5    Orban, T.6
  • 12
    • 0035122350 scopus 로고    scopus 로고
    • Beta-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations
    • Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, et al. Beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. Diabetes 2001;50 Suppl 1:8101-7.
    • (2001) Diabetes , vol.50 , Issue.SUPPL. 1 , pp. 8101-8107
    • Pearson, E.R.1    Velho, G.2    Clark, P.3    Stride, A.4    Shepherd, M.5    Frayling, T.M.6
  • 13
    • 0035992825 scopus 로고    scopus 로고
    • Different genes, different diabetes: Lessons from maturity-onset diabetes of the young
    • Stride A, Hattersley AT. Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann Med 2002;34: 207-16.
    • (2002) Ann Med , vol.34 , pp. 207-216
    • Stride, A.1    Hattersley, A.T.2
  • 15
    • 0035166810 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease
    • Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, et al. Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 2001;68:219-24.
    • (2001) Am J Hum Genet , vol.68 , pp. 219-224
    • Bingham, C.1    Bulman, M.P.2    Ellard, S.3    Allen, L.I.4    Lipkin, G.W.5    Hoff, W.G.6
  • 16
    • 0031965862 scopus 로고    scopus 로고
    • Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young
    • Velho G, Froguel P. Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. Eur J Endocrinol 1998;138: 233-9.
    • (1998) Eur J Endocrinol , vol.138 , pp. 233-239
    • Velho, G.1    Froguel, P.2
  • 17
    • 14444278300 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor 1 alpha gene are a common cause of maturity-onset diabetes of the young in the United Kingdom
    • FraylingTM, Bulman M, Ellard S, Appleton M, Dronsfield MJ, Mackie ADR, et al. Mutations in the hepatocyte nuclear factor 1 alpha gene are a common cause of maturity-onset diabetes of the young in the United Kingdom. Diabetes 1997;46:720-5.
    • (1997) Diabetes , vol.46 , pp. 720-725
    • Frayling, T.M.1    Bulman, M.2    Ellard, S.3    Appleton, M.4    Dronsfield, M.J.5    Mackie, A.D.R.6
  • 18
    • 0033752712 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young
    • Ellard S. Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum Mutat 2000;16: 377-85.
    • (2000) Hum Mutat , vol.16 , pp. 377-385
    • Ellard, S.1
  • 19
    • 0034892164 scopus 로고    scopus 로고
    • 4 families: Functional and pathological consequences
    • 4 families: functional and pathological consequences. J Mol Endocrinol 2001; 27:11-29.
    • (2001) J Mol Endocrinol , vol.27 , pp. 11-29
    • Ryffel, G.U.1
  • 20
    • 0035122282 scopus 로고    scopus 로고
    • Beta-cell genes and diabetes: Molecular and clinical characterization of mutations in transcription factors
    • Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, et al. Beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 2001;50 Suppl 1: S94-100.
    • (2001) Diabetes , vol.50 , Issue.SUPPL. 1
    • Frayling, T.M.1    Evans, J.C.2    Bulman, M.P.3    Pearson, E.4    Allen, L.5    Owen, K.6
  • 22
    • 0027472126 scopus 로고
    • Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus
    • Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaine M, Sun F, et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 1993;328:697-702.
    • (1993) N Engl J Med , vol.328 , pp. 697-702
    • Froguel, P.1    Zouali, H.2    Vionnet, N.3    Velho, G.4    Vaxillaine, M.5    Sun, F.6
  • 23
    • 0344665736 scopus 로고    scopus 로고
    • 'I'm amazed I've been able to come off injections': Patients' perceptions of genetic testing in diabetes. Report of the Janet Kinson Lecture, Diabetes UK 2003, including commentary by K.MacLeod
    • Shepherd M. 'I'm amazed I've been able to come off injections': patients' perceptions of genetic testing in diabetes. Report of the Janet Kinson Lecture, Diabetes UK 2003, including commentary by K.MacLeod. Pract Diab Int 2003;20:338-43.
    • (2003) Pract Diab Int , vol.20 , pp. 338-343
    • Shepherd, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.