Associated Papers
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.
Abdelwahed M et al.
Gene, 2024
An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.
Kickova T et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2024
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Svalastoga P et al.
Diabetologia, 2023
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
Thuesen ACB et al.
The Lancet Regional Health. Europe, 2023
Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.
Trhanint S et al.
International Journal of Pediatrics & Adolescent Medicine, 2022
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Clinical Characteristics and Gene Mutations of Two Families with MODY 3 in Inner Mongolia.
Ren XY et al.
Pharmacogenomics and Personalized Medicine, 2022
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S et al.
American Journal of Human Genetics, 2020
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Unique genetic alterations and clinicopathological features of hepatocellular adenoma in Chinese population.
Liu HP et al.
Pathology, Research and Practice, 2015
Three novel mutations in MODY and its phenotype in three different Czech families.
Bazalová Z et al.
Diabetes Research and Clinical Practice, 2010
Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus.
Plengvidhya N et al.
Clinical Endocrinology, 2009
Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young.
Radha V et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study).
Eide SA et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2008
[Relationship between genetic alterations and clinicopathological features in intrahepatic cholangiocarcinoma].
Cong W et al.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2001
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Ellard S
Human Mutation, 2000