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Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees

被引：33
作者：
Fajans, SS [1 ]
Bell, GI
机构：
[1] Univ Michigan Hlth Syst, Dept Internal Med, Ann Arbor, MI 48109 USA
[2] Univ Chicago, Dept Med, Chicago, IL 60637 USA
来源：
DIABETOLOGIA | 2006年 / 49卷 / 05期
关键词：
D O I：
10.1007/s00125-006-0158-y
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1106 / 1108
页数：3
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  • [1] Are glucokinase mutations associated with low triglycerides?
    Berger, M
    Mönks, D
    Schmidt, H
    Krane, V
    Wanner, C
    Walter, U
    Lindner, TH
    [J]. CLINICAL CHEMISTRY, 2005, 51 (04) : 791 - 793
  • [2] SCOPE AND HETEROGENEOUS NATURE OF MODY
    FAJANS, SS
    [J]. DIABETES CARE, 1990, 13 (01) : 49 - 64
  • [3] β-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
    Bingham, C
    Hannemann, M
    Shepherd, M
    Ellard, S
    Hattersley, AT
    [J]. DIABETES, 2001, 50 : S94 - S100
  • [4] Glucokinase (GCK) mutations in hyper- and hypoglycemia:: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy
    Gloyn, AL
    [J]. HUMAN MUTATION, 2003, 22 (05) : 353 - 362
  • [5] Mutation in the HNF-4α gene affects insulin secretion and triglyceride metabolism
    Lehto, M
    Bitzén, PO
    Isomaa, B
    Wipemo, C
    Wessman, Y
    Forsblom, C
    Tuomi, T
    Taskinen, MR
    Groop, L
    [J]. DIABETES, 1999, 48 (02) : 423 - 425
  • [6] Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4 alpha 1/MODY1 gene
    Lindner, T
    Gragnoli, C
    Furuta, H
    Cockburn, BN
    Petzold, C
    Rietzsch, H
    Weiss, U
    Schulze, J
    Bell, GI
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1997, 100 (06) : 1400 - 1405
  • [7] Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection
    Pearson, ER
    Pruhova, S
    Tack, CJ
    Johansen, A
    Castleden, HAJ
    Lumb, PJ
    Wierzbicki, AS
    Clark, PM
    Lebl, J
    Pedersen, O
    Ellard, S
    Hansen, T
    Hattersley, AT
    [J]. DIABETOLOGIA, 2005, 48 (05) : 878 - 885
  • [8] Genotype/phenotype relationships in HNF-4α/MODY1 -: Haploinsufficiency is associated with reduced apolipoprotein(AII), apolipoprotein(CIII), lipoprotein(a), and triglyceride levels
    Shih, DQ
    Dansky, HM
    Fleisher, M
    Assmann, G
    Fajans, SS
    Stoffel, M
    [J]. DIABETES, 2000, 49 (05) : 832 - 837
  • [9] The genetic abnormality in the beta cell determines the response to an oral glucose load
    Stride, A
    Vaxillaire, M
    Tuomi, T
    Barbetti, F
    Njolstad, PR
    Hansen, T
    Costa, A
    Conget, I
    Pedersen, O
    Sovik, O
    Lorini, R
    Groop, L
    Froguel, P
    Hattersley, AT
    [J]. DIABETOLOGIA, 2002, 45 (03) : 427 - 435
  • [10] Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
    Velho, G
    Blanche, H
    Vaxillaire, M
    BellanneChantelot, C
    Pardini, VC
    Timsit, J
    Passa, P
    Deschamps, I
    Robert, JJ
    Weber, IT
    Marotta, D
    Pilkis, SJ
    Lipkind, GM
    Bell, GI
    Froguel, P
    [J]. DIABETOLOGIA, 1997, 40 (02) : 217 - 224
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