Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics

被引：0
作者：
Kashyap A. Patel
Mehmet N. Ozbek
Melek Yildiz
Tulay Guran
Cemil Kocyigit
Sezer Acar
Zeynep Siklar
Muge Atar
Kevin Colclough
Jayne Houghton
Matthew B. Johnson
Sian Ellard
Sarah E. Flanagan
Filiz Cizmecioglu
Merih Berberoglu
Korcan Demir
Gonul Catli
Serpil Bas
Teoman Akcay
Huseyin Demirbilek
Michael N. Weedon
Andrew T. Hattersley
机构：
[1] University of Exeter,Institute of Biomedical and Clinical Science, College of Medicine and Health
[2] Gazi Yasargil Diyarbakir Training and Research Hospital,Department of Paediatric Endocrinology
[3] Kanuni Sultan Suleyman Training and Research Hospital,Department of Paediatric Endocrinology
[4] Istanbul University,Department of Paediatric Endocrinology, Istanbul Faculty of Medicine
[5] Marmara University Hospital,Department of Paediatric Endocrinology and Diabetes
[6] Tepecik Training and Research Hospital,Department of Paediatric Endocrinology
[7] Dokuz Eylul University,Department of Paediatric Endocrinology
[8] Dr Behcet Uz Child Disease and Paediatric Surgery Training and Research Hospital,Division of Paediatric Endocrinology
[9] Ankara University School of Medicine,Department of Paediatric Endocrinology
[10] Kocaeil University Hospital,Department of Paediatric Endocrinology
[11] Suleyman Demirel University,Department of Paediatric Endocrinology
[12] Royal Devon and Exeter National Health Service Foundation Trust,Department of Molecular Genetics
[13] Istinye University,Department of Paediatric Endocrinology
[14] Gaziosmanpasa Medical Park Hospital,Department of Paediatric Endocrinology
[15] Hacettepe University Faculty of Medicine,undefined
来源：
Diabetologia | 2022年 / 65卷
关键词：
Diabetes syndrome; MODY; Monogenic diabetes; Recessive monogenic diabetes; Syndromic diabetes; Type 1 diabetes; Type 1 diabetes genetic risk score;
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中图分类号：
学科分类号：
摘要：
引用
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页码：336 / 342
页数：6
相关论文
共 41 条
  • [1] Sousa M(2020)Monogenic diabetes: genetics and relevance on diabetes mellitus personalized medicine Curr Diabetes Rev 16 807-819
  • [2] Bruges-Armas J(2018)ISPAD clinical practice consensus guidelines 2018: the diagnosis and management of monogenic diabetes in children and adolescents Pediatr Diabetes 19 47-63
  • [3] Hattersley AT(2016)The prevalence of consanguineous marriages and affecting factors in Turkey: a National Survey J Biosoc Sci 48 616-630
  • [4] Greeley SAW(2016)Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes Diabetes Care 39 1879-1888
  • [5] Polak M(2016)Type 1 diabetes genetic risk score: a novel tool to discriminate monogenic and type 1 diabetes Diabetes 65 2094-2099
  • [6] Kaplan S(2007)Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls Nature 447 661-678
  • [7] Pinar G(2016)A type 1 diabetes genetic risk score can aid discrimination between type 1 and type 2 diabetes in young adults Diabetes Care 39 337-344
  • [8] Kaplan B(2019)Zinc transporter 8 autoantibodies (ZnT8A) and a type 1 diabetes genetic risk score can exclude individuals with type 1 diabetes from inappropriate genetic testing for monogenic diabetes Diabetes Care 42 e16-e17
  • [9] Shepherd M(2013)Standardizing anthropometric measures in children and adolescents with functions for egen: update Stata J 13 366-378
  • [10] Shields B(2012)The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes Diabetologia 55 1265-1272
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