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Volumn 30, Issue 8, 2013, Pages

Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations

Author keywords

[No Author keywords available]

Indexed keywords

C PEPTIDE; GLICLAZIDE; GLUCOKINASE; GLUCOSE; HEMOGLOBIN A1C; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; KETONE; METFORMIN; NUCLEOTIDE; ORAL ANTIDIABETIC AGENT; SAXAGLIPTIN; SULFONYLUREA;

EID: 84880687428     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/dme.12210     Document Type: Article
Times cited : (6)

References (21)
  • 1
    • 0028845529 scopus 로고
    • Maturity-onset diabetes of the young (MODY) at least ten times more common in Europe than previously assumed?
    • Ledermann HM. Maturity-onset diabetes of the young (MODY) at least ten times more common in Europe than previously assumed? Diabetologia 1995; 38: 1482.
    • (1995) Diabetologia , vol.38 , pp. 1482
    • Ledermann, H.M.1
  • 3
    • 84858996746 scopus 로고    scopus 로고
    • Diagnosis and management of maturity onset diabetes of the young (MODY)
    • Thanabalasingham G, Owen KR. Diagnosis and management of maturity onset diabetes of the young (MODY). Br Med J 2011; 343: d6044.
    • (2011) Br Med J , vol.343
    • Thanabalasingham, G.1    Owen, K.R.2
  • 5
    • 34848817769 scopus 로고    scopus 로고
    • Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
    • Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J et al. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia 2007; 50: 2313-2317.
    • (2007) Diabetologia , vol.50 , pp. 2313-2317
    • Ellard, S.1    Thomas, K.2    Edghill, E.L.3    Owens, M.4    Ambye, L.5    Cropper, J.6
  • 7
  • 8
    • 70350741368 scopus 로고    scopus 로고
    • Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes and hyperinsulinemic hypoglycemia
    • Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanne-Chantelot C, Ellard S et al. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes and hyperinsulinemic hypoglycemia. Hum Mutat 2009; 30: 1512-1526.
    • (2009) Hum Mutat , vol.30 , pp. 1512-1526
    • Osbak, K.K.1    Colclough, K.2    Saint-Martin, C.3    Beer, N.L.4    Bellanne-Chantelot, C.5    Ellard, S.6
  • 9
    • 41149139275 scopus 로고    scopus 로고
    • Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
    • Ellard S, Bellanne-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008; 51: 546-553.
    • (2008) Diabetologia , vol.51 , pp. 546-553
    • Ellard, S.1    Bellanne-Chantelot, C.2    Hattersley, A.T.3
  • 11
    • 84865293939 scopus 로고    scopus 로고
    • Impact of Type 2 diabetes on glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report
    • Stanik J, Kusekova M, Huckova M, Valentinova L, Masindova I, Stanikova D et al. Impact of Type 2 diabetes on glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report. Endocr Regul 2012; 46: 99-105.
    • (2012) Endocr Regul , vol.46 , pp. 99-105
    • Stanik, J.1    Kusekova, M.2    Huckova, M.3    Valentinova, L.4    Masindova, I.5    Stanikova, D.6
  • 12
    • 84867957303 scopus 로고    scopus 로고
    • The coexistence of type 1 diabetes, MODY2 and metabolic syndrome in a young girl
    • Calcaterra V, Martinetti M, Salina A, Aloi C, Larizza D. The coexistence of type 1 diabetes, MODY2 and metabolic syndrome in a young girl. Acta Diabetol 2012; 49: 401-404.
    • (2012) Acta Diabetol , vol.49 , pp. 401-404
    • Calcaterra, V.1    Martinetti, M.2    Salina, A.3    Aloi, C.4    Larizza, D.5
  • 13
    • 47649098156 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis
    • Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong LJ. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn 2008; 10: 368-375.
    • (2008) J Mol Diagn , vol.10 , pp. 368-375
    • Schrijver, I.1    Rappahahn, K.2    Pique, L.3    Kharrazi, M.4    Wong, L.J.5
  • 14
    • 15444370412 scopus 로고    scopus 로고
    • MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
    • Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 2005; 6: 29-35.
    • (2005) Neurogenetics , vol.6 , pp. 29-35
    • Janssen, B.1    Hartmann, C.2    Scholz, V.3    Jauch, A.4    Zschocke, J.5
  • 15
    • 0032997926 scopus 로고    scopus 로고
    • Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1α gene hinders the identification of mutations in three families with maturity-onset diabetes of the young
    • Ellard S, Bulman MP, Frayling TM, Allen LI, Dronsfield MJ, Tack CJ et al. Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1α gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. Diabetes 1999; 48: 921-923.
    • (1999) Diabetes , vol.48 , pp. 921-923
    • Ellard, S.1    Bulman, M.P.2    Frayling, T.M.3    Allen, L.I.4    Dronsfield, M.J.5    Tack, C.J.6
  • 16
    • 33748289486 scopus 로고    scopus 로고
    • A hepatocyte nuclear factor-4α gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry
    • Raeder H, Bjorkhaug L, Johansson S, Mangseth K, Sagen JV, Hunting A et al. A hepatocyte nuclear factor-4α gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry. Diabetes 2006; 55: 1899-1903.
    • (2006) Diabetes , vol.55 , pp. 1899-1903
    • Raeder, H.1    Bjorkhaug, L.2    Johansson, S.3    Mangseth, K.4    Sagen, J.V.5    Hunting, A.6
  • 17
    • 84861333315 scopus 로고    scopus 로고
    • Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young
    • Thanabalasingham G, Pal A, Selwood MP, Dudley C, Fisher K, Bingley PJ et al. Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care 2012; 35: 1206-1212.
    • (2012) Diabetes Care , vol.35 , pp. 1206-1212
    • Thanabalasingham, G.1    Pal, A.2    Selwood, M.P.3    Dudley, C.4    Fisher, K.5    Bingley, P.J.6
  • 18
    • 84862207587 scopus 로고    scopus 로고
    • Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene
    • Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L et al. Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. PLoS One 2012; 7: e37423.
    • (2012) PLoS One , vol.7
    • Bonnefond, A.1    Philippe, J.2    Durand, E.3    Dechaume, A.4    Huyvaert, M.5    Montagne, L.6
  • 21
    • 84862899735 scopus 로고    scopus 로고
    • Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in Cis
    • Beer NL, Osbak KK, van de Bunt M, Tribble ND, Steele AM, Wensley KJ et al. Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in Cis. Diabetes Care 2012; 35: 1482-1484.
    • (2012) Diabetes Care , vol.35 , pp. 1482-1484
    • Beer, N.L.1    Osbak, K.K.2    van de Bunt, M.3    Tribble, N.D.4    Steele, A.M.5    Wensley, K.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.