| review article | Q7318358 |
| scholarly article | Q13442814 |
| case report | Q2782326 |
| P50 | author | Jan Lebl | Q44869940 |
| P2093 | author name string | Stepanka Pruhova | |
| Ondrej Cinek | |||
| Lenka Dusatkova | |||
| Petra Dusatkova | |||
| Tomas Seeman | |||
| Radana Kotalova | |||
| Tomas Dedic | |||
| P2860 | cites work | A complex phenotype with cystic renal disease. | Q52931130 |
| Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. | Q55039369 | ||
| HNF1B deficiency causes ciliary defects in human cholangiocytes | Q56931604 | ||
| Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta) | Q64046006 | ||
| Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development | Q74526377 | ||
| The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia | Q77150140 | ||
| Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5 | Q81402655 | ||
| Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood | Q84580181 | ||
| Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis | Q87030430 | ||
| Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism | Q28209290 | ||
| Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin release | Q28586448 | ||
| Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement | Q30708416 | ||
| A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta | Q33873845 | ||
| HNF1B mutations associate with hypomagnesemia and renal magnesium wasting | Q34658412 | ||
| Biliary differentiation and bile duct morphogenesis in development and disease | Q37593213 | ||
| Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. | Q37821513 | ||
| Development of the bile ducts: essentials for the clinical hepatologist | Q37975904 | ||
| The HNF1B score is a simple tool to select patients for HNF1B gene analysis | Q38217616 | ||
| Expression of specific hepatocyte and cholangiocyte transcription factors in human liver disease and embryonic development | Q41888107 | ||
| HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease | Q43424935 | ||
| Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta. | Q43948844 | ||
| Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young | Q46083091 | ||
| Modelling of reference values for size at birth | Q47174955 | ||
| Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction | Q47690661 | ||
| Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. | Q47903942 | ||
| Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations | Q47998611 | ||
| Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. | Q48041792 | ||
| Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis. | Q52173199 | ||
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | literature review | Q2412849 |
| P304 | page(s) | 2550-2557 | |
| P577 | publication date | 2015-02-01 | |
| P1433 | published in | World Journal of Gastroenterology | Q15708885 |
| P1476 | title | Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review | |
| P478 | volume | 21 |
| Q52680740 | A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5). |
| Q47756717 | Choledochal Cyst with 17q12 Chromosomal Duplication |
| Q89747881 | Exome Sequencing in Individuals with Isolated Biliary Atresia |
| Q36514988 | Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. |
| Q39395392 | Liver involvement in kidney disease and vice versa. |
| Q41018980 | Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease |
| Q37014800 | Mullerian Duct Cyst Causing Bladder Outlet Obstruction in a Patient with HNF-1β Gene Deletion |
| Q64119838 | Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review |
| Q38822493 | The role of hepatocyte nuclear factor 1β in disease and development. |
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