Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children

Objective:Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood i...

書誌詳細
出版年:	JCRPE
主要な著者:	Damla Gökşen, Ediz Yeşilkaya, Samim Özen, Yılmaz Kor, Erdal Eren, Özlem Korkmaz, Merih Berberoğlu, Gülay Karagüzel, Eren Er, Ayhan Abacı, Olcay Evliyaoğlu, Emine Demet Akbaş, Edip Ünal, Semih Bolu, Özlem Nalbantoğlu, Ahmet Anık, Meltem Tayfun, Muammer Büyükinan, Saygın Abalı, Gülay Can Yılmaz, Deniz Kör, Elif Söbü, Zeynep Şıklar, Recep Polat, Şükran Darcan
フォーマット:	論文
言語:	英語
出版事項:	Pediatric Endocrinology and Diabetes Society 2021-12-01
主題:	monogenic diabetes early-onset diabetes next-generation sequencing gck hnf1a
オンライン･アクセス:	http://www.jcrpe.org/archives/archive-detail/article-preview/molecular-diagnosis-of-monogenic-diabetes-and-clin/48056

類似資料

MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
著者:: Roberta Magalhães Tarantino, 等

Infrequent presentations of MODY diabetes, the example of MODY type 5 and the novo forms of MODY type 2
著者:: Alejandro De Dios, 等
出版事項: (2018-03-01)

Maturity onset diabetes of the young: Diagnosis and treatment options
著者:: Serghei Covanțev, 等
出版事項: (2016-12-01)

When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients
著者:: Yujia Gao, 等
出版事項: (2025-01-01)

Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran
著者:: Sara Asgarian, 等
出版事項: (2024-08-01)

Management of pregnancy in women with monogenic diabetes due to mutations in GCK, HNF1A and HNF4A genes
著者:: M. T. Crowley, 等
出版事項: (2024-06-01)

Maturity-onset Diabetes of the Young (MODY): How Much Can We Detect?
著者:: Gökhan UYGUN, 等
出版事項: (2025-07-01)

Diagnosis and Treatment of Monogenic Forms of Diabetes Mellitus: Focus on Mody-Diabetes
著者:: K. A. Aitbaev, 等
出版事項: (2022-12-01)

NGS Analysis Revealed Digenic Heterozygous <i>GCK</i> and <i>HNF1A</i> Variants in a Child with Mild Hyperglycemia: A Case Report
著者:: Fernanda Iafusco, 等
出版事項: (2021-06-01)

Hidden MODY—Looking for a Needle in a Haystack
著者:: Jana Urbanová, 等
出版事項: (2018-07-01)

The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar
著者:: Sara Al‐Khawaga, 等
出版事項: (2019-10-01)

Diagnosis and Treatment of MODY: An Updated Mini Review
著者:: Abegail Tshivhase, 等
出版事項: (2021-10-01)

GCK rs1799884 Polymorphism and Gestational Diabetes Mellitus: A System Review and Meta-Analysis
著者:: Yong Hu, 等
出版事項: (2024-05-01)

Association of GCK (rs1799884), GCKR (rs780094), and G6PC2 (rs560887) Gene Polymorphisms with Type 2 Diabetes among Malay Ethnics
著者:: Neda Ansari, 等
出版事項: (2023-01-01)

Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectives
著者:: Rudland VL
出版事項: (2019-07-01)

Case Report: New insights about clinical manifestations of patients with GCK genetic variants
著者:: Ritiele Bastos de Souza, 等
出版事項: (2025-04-01)

GCK-MODY diabetes course in persons over 18 years of age: prospective observation
著者:: A. K. Ovsyannikova, 等
出版事項: (2021-07-01)

GCK Mutation Analysis and Clinical Profiles of Chinese Pediatric Patients with MODY2: Insights into Screening and Diagnosis
著者:: Su C, 等
出版事項: (2025-10-01)

Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
著者:: E. A. Sechko, 等
出版事項: (2022-05-01)

Studies on the Association of GCK and GCKR Polymorphisms with Susceptibility to Gestational Diabetes Mellitus: A Meta-Analysis
著者:: Hongxia Tu, 等
出版事項: (2025-01-01)

GCK‐MODY in pregnancy: A pregnant woman with diabetes and a small‐for‐gestational‐age fetus
著者:: Tiffany Tse Ling Yau, 等
出版事項: (2022-12-01)

A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases
著者:: Zsolt Gaál, 等
出版事項: (2021-07-01)

A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-onset Diabetes of the Young
著者:: Sezer Acar, 等
出版事項: (2018-09-01)

MODY2 diagnostic issues in adults
著者:: Irina V. Kononenko, 等
出版事項: (2019-10-01)

Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics
著者:: Arunkumar R. Pande, 等
出版事項: (2024-11-01)

In response to: 'Children with Newly Diagnosed Type 1 Diabetes Before and During the COVID-19 Pandemic'
著者:: Emine Ayça Cimbek, 等
出版事項: (2022-09-01)

Variants of the HNF4A and HNF1A genes in patients with impaired glucose metabolism and dyslipidemia
著者:: Dinara E. Ivanoshchuk, 等
出版事項: (2022-01-01)

A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation
著者:: Gülçin Arslan, 等
出版事項: (2020-06-01)

Prevalence of Obesity and Metabolic Syndrome in Children with Type 1 Diabetes: A Comparative Assessment Based on Criteria Established by the International Diabetes Federation, World Health Organisation and National Cholesterol Education Program
著者:: Özlem Yayıcı Köken, 等
出版事項: (2020-03-01)

Emerging phenotype: Maturity-onset diabetes of the young type 5 (MODY-5) – mechanisms, clinical spectrum, and unmet needs
著者:: Fahrul Nurkolis, 等
出版事項: (2025-07-01)

A Long-Term Comparison of Presenting Characteristics of Children with Newly Diagnosed Type 1 Diabetes Before and During the COVID-19 Pandemic
著者:: Gülay Kaya, 等
出版事項: (2022-09-01)

HNF4α-TET2-FBP1 axis contributes to gluconeogenesis and type 2 diabetes
著者:: Hongchen Li, 等
出版事項: (2025-06-01)

Prevalence and clinical profile of maturity onset diabetes of the young among people with diabetes attending a tertiary care centre
著者:: Javaid Ahmad Bhat, 等
出版事項: (2022-01-01)

Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center
著者:: Sara Amaral, 等
出版事項: (2023-02-01)

Maturity‐onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a case
著者:: Akiko Hayakawa‐Iwamoto, 等
出版事項: (2022-05-01)

Characteristics of Glycemic Variability in Patients with GCK-MODY
著者:: A. K. Ovsyannikova, 等
出版事項: (2022-12-01)

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay
著者:: Sarah Gersing, 等
出版事項: (2024-04-01)

Genetic activation of α-cell glucokinase in mice causes enhanced glucose-suppression of glucagon secretion during normal and diabetic states
著者:: Varun Bahl, 等
出版事項: (2021-07-01)

Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report
著者:: Jean Claude Katte, 等
出版事項: (2024-10-01)

Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection
著者:: Valérie M. Schwitzgebel, 等
出版事項: (2024-04-01)