Associated Papers
A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.
Siu LL et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.
Mazouji O et al.
Scientific Reports, 2025
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
Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.
Grzywa TM 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
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 2019
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family.
Pace NP et al.
Clinical Medicine Insights. Case Reports, 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
Frequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in southern New Zealand.
Wheeler BJ et al.
Journal of Diabetes and Metabolic Disorders, 2013
Three novel mutations in MODY and its phenotype in three different Czech families.
Bazalová Z et al.
Diabetes Research and Clinical Practice, 2010
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
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Estalella I et al.
Clinical Endocrinology, 2007
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
Ellard S et al.
Human Mutation, 2006
Identification of four novel mutations in the HNF-1A gene in Chinese early-onset and/or multiplex diabetes pedigrees.
Yang Z et al.
Chinese Medical Journal, 2006
[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