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

页码：S161 / S162

页数：2

共 50 条

[41] Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes [J].

Yorifuji, T. ;

Matsubara, K. ;

Sakakibara, A. ;

Hashimoto, Y. ;

Kawakita, R. ;

Hosokawa, Y. ;

Fujimaru, R. ;

Murakami, A. ;

Tamagawa, N. ;

Hatake, K. ;

Nagasaka, H. ;

Suzuki, J. ;

Urakami, T. ;

Izawa, M. ;

Kagami, M. .

DIABETIC MEDICINE, 2015, 32 (07) :963-967

[42] Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes [J].

Stanik, Juraj ;

Lethby, Mark ;

Flanagan, Sarah E. ;

Gasperikova, Daniela ;

Milosovicova, Beata ;

Lever, Margaret ;

Bullman, Hilary ;

Zubcevic, Leja ;

Hattersley, Andrew T. ;

Ellard, Sian ;

Ashcroft, Frances M. ;

Klimes, Iwar .

DIABETES CARE, 2008, 31 (09) :1736-1737

[43] Transient Neonatal Diabetes: Clinical Differences between Patients Bearing KATP Mutations and 6q24 Defects May Guide Genetic Screening [J].

Barbetti, Fabrizio ;

Bonfanti, Riccardo ;

Rabbone, Ivana ;

Reinstadler, Petra ;

Bizzarri, Carla ;

Iafusco, Dario .

DIABETES, 2020, 69

[44] Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes [J].

Mccullough, Michael E. ;

Letourneau-Freiberg, Lisa R. ;

Bowden, Tiana L. ;

Kandasamy, Balamurugan ;

Ray, Angela ;

Wroblewski, Kristen ;

del Gaudio, Daniela ;

Mackay, Deborah J. G. ;

Philipson, Louis H. ;

Greeley, Siri Atma W. .

PEDIATRIC DIABETES, 2024, 2024 :3624339

[45] LOCALIZATION OF A DYSTROPHIN-RELATED AUTOSOMAL GENE TO 6Q24 IN MAN, AND TO MOUSE CHROMOSOME 10 IN THE REGION OF THE DYSTROPHIA MUSCULARIS (DY) LOCUS [J].

BUCKLE, VJ ;

GUENET, JL ;

SIMONCHAZOTTES, D ;

LOVE, DR ;

DAVIES, KE .

HUMAN GENETICS, 1990, 85 (03) :324-326

[46] 6q24-related Transient Neonatal Diabetes: future outcome and importance of genetic counseling [J].

Cid Galache, Pablo ;

Zamorano Bonilla, Laura .

HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 (SUPPL 2) :155-155

[47] Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea [J].

Fu JunLing ;

Wang Tong ;

Xiao XinHua .

中华医学杂志英文版, 2019, 132 (07) :846-847-848

[48] Developing a research register for patients with 6q24-related transient neonatal diabetes mellitus [J].

Lehmann, Anna ;

Shield, J. P. ;

Robinson, D. ;

Mackay, D. J. G. ;

Temple, I. K. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 :S39-S39

[49] Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea [J].

Fu, Jun-Ling ;

Wang, Tong ;

Xiao, Xin-Hua .

CHINESE MEDICAL JOURNAL, 2019, 132 (07) :846-848

[50] Evaluation of a SNP map of 6q24–27 confirms diabetic nephropathy loci and identifies novel associations in type 2 diabetes patients with nephropathy from an African-American population [J].

Tennille S. Leak ;

Josyf C. Mychaleckyj ;

Shelly G. Smith ;

Keith L. Keene ;

Candace J. Gordon ;

Pamela J. Hicks ;

Barry I. Freedman ;

Donald W. Bowden ;

Michèle M. Sale .

Human Genetics, 2008, 124 :63-71

← 1 2 3 4 5 →