Disease: Renal cysts and diabetes syndrome
- <em>De novo</em> HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia
- <em>DICER1</em> and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies
- 17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5
- 17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis
- A Boy with End-Stage Kidney Disease and Hypertriglyceridemia
- A case of a novel mutation in HNF1β-related maturity-onset diabetes of the young type 5 with diabetic kidney disease complication in a Chinese family
- A Case of Diabetes Mellitus Type MODY5 as a feature of 17q12 Deletion Syndrome
- A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis
- A case of MODY5-like manifestations without mutations or deletions in coding and minimal promoter regions of the HNF1B gene
- A case of renal cysts and diabetes syndrome presenting with gout as initial symptom
- A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes
- A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes
- A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability
- A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report
- A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update
- A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5)
- A Possible New Multiple Endocrine Neoplasia Mutation in a Patient with a Prototypic Multiple Endocrine Neoplasia Presentation
- An effective preselection criterion for MODY with an increasingly positive genetic testing rate by NGS: results from two cohorts of Chinese children
- An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)
- Androgens, the kidney, and COVID-19: an opportunity for translational research
- Association of simple renal cysts with metabolic syndrome in adults
- Blood pressure in children with renal cysts and diabetes syndrome
- Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis
- Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome
- Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B
- Cholestatic jaundice in infancy: struggling with many old and new phenotypes
- Ciliopathy: Alström Syndrome
- Clinical characteristics of HNF1B-related disorders in a Japanese population
- Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease
- Clinical Results Following Conservative Management of Tarsal Tunnel Syndrome Compared With Surgical Treatment: A Systematic Review
- Contribution of Advanced Glycation End Products to PCOS Key Elements: A Narrative Review
- Defining renal phenotype in Alström syndrome
- Diabetes in a child on growth hormone therapy: Answers
- Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<em>HNF1B</em>) Molecular Defects
- Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene
- Epidemiology, risk factors, social determinants of health, and current management for non-alcoholic fatty liver disease in sub-Saharan Africa
- Establishment of PLAFMCi005-A induced pluripotent stem cells derived from PBMC from a patient with renal cysts and diabetes syndrome
- Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramnios
- Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas
- Genotype and Phenotype Analyses in Pediatric Patients with <em>HNF1B</em> Mutations
- Germline and somatic inactivating FLCN variants in parathyroid cancer and atypical parathyroid tumors
- Glomerulocystic disease, a rare cause of renal cysts in infants: A series of three cases
- Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review
- Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation
- Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report
- Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes
- HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred
- HNF1B deletions in patients with young-onset diabetes but no known renal disease
- Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model
- HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes
- Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease
- Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review
- Impact of SGLT-2 Inhibition on Cardiometabolic Abnormalities in a Rat Model of Polycystic Ovary Syndrome
- Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)
- Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease
- Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations
- Kidney stones and moderate proteinuria as the rare manifestations of Gitelman syndrome
- Liver, kidneys and diabetes: three faces of HNF1B gene deficit
- Long-lasting response to oral therapy in a young male with monogenic diabetes as part of <em>HNF1B</em>-related disease
- Loss of Muscle Mass in Delayed Diagnosis of Renal Cysts and Diabetes Syndrome: A Case Report
- Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease
- Management of cardiometabolic complications in polycystic ovary syndrome: Unmet needs
- Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience
- Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing
- Maturity-Onset diabetes of the young type 5 treated with the glucagon-like peptide-1 receptor agonist: A case report
- Metformin serum concentrations during pregnancy and post partum - A clinical study in patients with polycystic ovary syndrome
- Mitochondrial function and oxidative stress in white adipose tissue in a rat model of PCOS: effect of SGLT2 inhibition
- MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene
- Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
- NAFLD and Extra-Hepatic Comorbidities: Current Evidence on a Multi-Organ Metabolic Syndrome
- Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review
- Obesity-associated cardiometabolic complications in polycystic ovary syndrome: The potential role of sodium-glucose cotransporter-2 inhibitors
- Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations
- Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5
- Placebo-controlled, double-blind study of the non-purine-selective xanthine oxidase inhibitor Febuxostat (TMX-67) in patients with hyperuricemia including those with gout in Japan: phase 3 clinical study
- Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generationsequencing
- Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array
- Prenatal diagnosis of two fetuses with 17q12 microdeletion syndrome
- Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases
- Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease
- Rare causes of abnormal liver function in a case of renal cysts and diabetes syndrome
- Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum
- Review of neurodevelopmental disorders in patients with HNF1B gene variations
- Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young
- Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5
- The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients
- The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait
- The individual and global impact of copy-number variants on complex human traits
- The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored
- The risk of chronic kidney disease among women with polycystic ovary syndrome: A long-term population-based cohort study
- The role of hepatocyte nuclear factor 1β in disease and development
- Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome
- Transcriptional profiling of the zebrafish proximal tubule
- Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations
- Urinary proteome signature of Renal Cysts and Diabetes syndrome in children
- Uromodulin: old friend with new roles in health and disease
- Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease
- Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case
- When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis
- Who should have genetic testing for maturity-onset diabetes of the young?