Novel modification of monogenic diabetes gene panel test improves diagnosis of 6q24 methylation related diabetes

被引：0
|
作者：
Kumar, R. [1 ]
Wakeling, M. [1 ]
Franco, E. D. [1 ]
Self, E. J. [1 ]
Flanagan, S. E. [1 ]
Hattersley, A. T. [1 ]
Patel, K. A. [1 ]
机构：
[1] Univ Exeter, Med Sch, Inst Biomed & Clin Sci, Exeter, Devon, England
来源：
DIABETOLOGIA | 2022年 / 65卷 / SUPPL 1期
基金：
英国惠康基金;
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
308
引用
收藏
页码：S161 / S162
页数：2
相关论文
共 50 条
  • [1] Simple novel modification of the existing monogenic diabetes gene panel test can improve diagnosis of diabetes due to 6q24 methylation defects
    Kumar, R.
    Wakeling, M.
    De Franco, E.
    Self, E.
    Flanagan, S. E.
    Patel, K. A.
    Hattersley, A. T.
    DIABETIC MEDICINE, 2022, 39
  • [2] 6q24 methylation defects are a novel cause of childhood/adult onset monogenic diabetes
    Kumar, R.
    Wakeling, M.
    De Franco, E.
    Self, E.
    Flanagan, S. E.
    Patel, K. A.
    Hattersley, A. T.
    DIABETIC MEDICINE, 2022, 39
  • [3] 6q24 transient neonatal diabetes
    I. Karen Temple
    Julian P. H. Shield
    Reviews in Endocrine and Metabolic Disorders, 2010, 11 : 199 - 204
  • [4] 6q24 transient neonatal diabetes
    Temple, I. Karen
    Shield, Julian P. H.
    REVIEWS IN ENDOCRINE & METABOLIC DISORDERS, 2010, 11 (03): : 199 - 204
  • [5] 6q24 transient neonatal diabetes - more than just diabetes
    Temple, Karen
    Davies, E. J.
    Robinson, D. O.
    Mackay, D. J. G.
    JOURNAL OF MEDICAL GENETICS, 2007, 44 : S30 - S30
  • [6] Duplication 6q24: More Than Just Diabetes
    Gore, Rachel H.
    Nikita, Maria Eleni
    Newton, Paula G.
    Carter, Rebecca G.
    Reyes-Bautista, Jeanine
    Greene, Carol L.
    JOURNAL OF THE ENDOCRINE SOCIETY, 2020, 4 (05)
  • [7] Mapping the gene for transient neonatal diabetes to a 5.3 MB region at 6q24
    Temple, K
    Gardner, RJ
    Robinson, DO
    Barber, JCK
    Shield, JP
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 153 - 153
  • [8] Transient Neonatal Diabetes: the 6q24 phenotype.
    Temple, IK
    Mackay, DJG
    Coupe, AM
    Cave, H
    Polak, M
    Siebert, R
    Barber, JCK
    Robinson, DO
    Shield, JPH
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 194 - 194
  • [9] Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype
    Flanagan, S. E.
    Mackay, D. J. G.
    Greeley, S. A. W.
    McDonald, T. J.
    Mericq, V.
    Hassing, J.
    Richmond, E. J.
    Martin, W. R.
    Acerini, C.
    Kaulfers, A. M.
    Flynn, D. P.
    Popovic, J.
    Sperling, M. A.
    Hussain, K.
    Ellard, S.
    Hattersley, A. T.
    DIABETOLOGIA, 2013, 56 (01) : 218 - 221
  • [10] Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype
    S. E. Flanagan
    D. J. G. Mackay
    S. A. W. Greeley
    T. J. McDonald
    V. Mericq
    J. Hassing
    E. J. Richmond
    W. R. Martin
    C. Acerini
    A. M. Kaulfers
    D. P. Flynn
    J. Popovic
    M. A. Sperling
    K. Hussain
    S. Ellard
    A. T. Hattersley
    Diabetologia, 2013, 56 : 218 - 221
12345