Works matching DE "MATURITY onset diabetes of the young"
Results: 274
Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY).
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- Journal of Postgraduate Medicine, 2019, v. 65, n. 4, p. 241, doi. 10.4103/jpgm.JPGM_166_19
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A Unique Phenotype of Maturity-Onset Diabetes of the Young With a Novel Disease-Causing Insulin Gene Variant.
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- 2025
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- Case Study
Novel Approach for Treating Diabetes in a Patient With the Heterozygous Pathogenic Variant R46Q in the Insulin Gene.
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- JCEM Case Reports, 2024, v. 2, n. 7, p. 1, doi. 10.1210/jcemcr/luae134
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A Challenging Case of Diabetes in a Patient With XXYY Syndrome.
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- JCEM Case Reports, 2024, v. 2, n. 4, p. 1, doi. 10.1210/jcemcr/luae014
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A Case of Maturity-Onset Diabetes of the Young With Complex Mutations.
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- JCEM Case Reports, 2024, v. 2, n. 3, p. 1, doi. 10.1210/jcemcr/luae031
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P-21 Maturity onset diabetes of the young 7: Case report.
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- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.027
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Exploring 17q12 Deletion Syndrome: A Case Report of Neurodevelopmental, Endocrine, and Genital Anomalies.
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- Central European Journal of Paediatrics, 2024, v. 20, n. 2, p. 132, doi. 10.5457/p2005-114.370
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- Article
PSMD9 is linked to T2D age of onset, years of isolated and combined insulin therapy, irregular menses, and hot flashes.
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- European Review for Medical & Pharmacological Sciences, 2022, v. 26, n. 23, p. 8873
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- Article
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32009-5
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Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32009-5
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- Article
Abstracts of the 2024 Pediatric Endocrine Society (PES) Annual Meeting. Chicago, IL, May 2 – 5, 2024.
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- Hormone Research in Paediatrics, 2024, v. 97, p. 4, doi. 10.1159/000541187
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- Article
Quantitative profiling and diagnostic potential of one-carbon and central metabolism pools in MODY2 and T1DM.
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- Diabetology & Metabolic Syndrome, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13098-023-01175-x
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- Article
Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center.
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- Diabetology & Metabolic Syndrome, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13098-022-00964-0
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- Article
The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age.
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- Diabetology & Metabolic Syndrome, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13098-023-00985-3
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Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 2, p. 740, doi. 10.3390/ijms26020740
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HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10609, doi. 10.3390/ijms251910609
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Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10501, doi. 10.3390/ijms251910501
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A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 18, p. 9823, doi. 10.3390/ijms25189823
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MODY Only Monogenic? A Narrative Review of the Novel Rare and Low-Penetrant Variants.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8790, doi. 10.3390/ijms25168790
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The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6318, doi. 10.3390/ijms25126318
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Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between MT-CO1 and MT-TL2 Genes and Diabetes Phenotype.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2438, doi. 10.3390/ijms25042438
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Glucokinase Variant Proteins Are Resistant to Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset Diabetes of the Young Type 2 Patients.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 21, p. 15842, doi. 10.3390/ijms242115842
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New Advances in Diabetes Genetics.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5591, doi. 10.3390/ijms24065591
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"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4034, doi. 10.3390/ijms24044034
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The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 130, doi. 10.3390/ijms24010130
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Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13022, doi. 10.3390/ijms232113022
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Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.
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- 2022
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- Literature Review
UDP-Glucose: A Cereblon-Dependent Glucokinase Protein Degrader.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9094, doi. 10.3390/ijms23169094
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Generation of IPSC Line ERCi004-A from Human Dermal Fibroblasts of a Patient with Maturity-Onset Diabetes of the Young Type 3 Caused by a Heterozygous Mutation in the HNF1A Gene.
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- Russian Journal of Developmental Biology, 2024, v. 55, n. 4, p. 209, doi. 10.1134/S1062360424700206
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Generation of an Induced Pluripotent Stem Cell Line ERCi003-A Derived from a Patient with Maturity-Onset Diabetes of the Young Type 10 Caused by a Heterozygous INS Mutation.
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- 2024
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- Publication type:
- Case Study
Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5).
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- ACG Case Reports Journal, 2023, v. 10, n. 10, p. 1, doi. 10.14309/crj.0000000000001150
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Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations.
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- Balkan Medical Journal, 2021, v. 38, n. 5, p. 272, doi. 10.5152/balkanmedj.2021.20155
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Distinguishing the lipid profile of GCK-MODY patients and its correlation with hsCRP levels.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1024431
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Leveraging the strengths of mice, human stem cells, and organoids to model pancreas development and diabetes.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1042611
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Comparison of insulin requirements across gestation in women with hyperglycemia in pregnancy: A prospective cohort study.
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- Frontiers in Endocrinology, 2022, v. 13, p. 01, doi. 10.3389/fendo.2022.1013663
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Precision therapy for three Chinese families with maturity-onset diabetes of the young (MODY12).
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.858096
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The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.911526
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The first case report on maturity-onset diabetes of young-11 from West Bengal, India.
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- 2024
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- Case Study
A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied.
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- 2024
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- Case Study
Genetics and Pathophysiology of Maturity-onset Diabetes of the Young (MODY): A Review of Current Trends.
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- Oman Medical Journal, 2020, v. 35, n. 3, p. 40, doi. 10.5001/omj.2020.44
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VARIATIONS IN MONOGENIC DIABETES AND DIABETES SUSCEPTIBILITY GENES IN PEDIATRIC CASES: SINGLE CENTER EXPERIENCE.
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- Acta Endocrinologica (1841-0987), 2023, v. 19, n. 4, p. 512, doi. 10.4183/aeb.2023.512
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COMPARISON OF C-PEPTIDE LEVELS IN MONOGENIC FORMS OF DIABETES WITH OTHER TYPES OF DIABETES: A SINGLE-CENTER STUDY.
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- Acta Endocrinologica (1841-0987), 2023, v. 19, n. 3, p. 281, doi. 10.4183/aeb.2023.281
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- Article
TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.
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- Acta Endocrinologica (1841-0987), 2023, v. 19, n. 2, p. 458, doi. 10.4183/aeb.2022.458
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- Article
TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.
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- Acta Endocrinologica (1841-0987), 2023, v. 19, n. 1, p. 458, doi. 10.4183/aeb.2022.458
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- Article
TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.
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- Acta Endocrinologica (1841-0987), 2022, v. 18, n. 4, p. 458, doi. 10.4183/aeb.2022.458
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Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review.
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- BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00891-7
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NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report.
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- BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00864-w
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Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls.
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- Acta Diabetologica, 2024, v. 61, n. 7, p. 917, doi. 10.1007/s00592-024-02273-6
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Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
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- Acta Diabetologica, 2024, v. 61, n. 2, p. 181, doi. 10.1007/s00592-023-02193-x
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Partial GCK gene deletion mutations causing maturity-onset diabetes of the young.
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- Acta Diabetologica, 2024, v. 61, n. 1, p. 107, doi. 10.1007/s00592-023-02173-1
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- Article