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American Journal of Kidney Diseases, ISSN 0272-6386, 02/2018, Volume 71, Issue 2, pp. A12 - A14
Journal Article
Internal Medicine, ISSN 0918-2918, 2018
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of early onset diabetes. The hepatocyte nuclear factor-1-beta (HNF1B) gene is... 
renal cysts | pancreatic atrophy | HNF1B | MODY5
Journal Article
Journal Article
NATURE REVIEWS NEPHROLOGY, ISSN 1759-5061, 02/2015, Volume 11, Issue 2, pp. 102 - 112
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1 beta (HNF1B) represent the most common known monogenic... 
DIABETES-MELLITUS | FACTOR-I-BETA | HNF1B MUTATIONS | GENE-EXPRESSION | UROLOGY & NEPHROLOGY | PROSTATE-CANCER RISK | FRAMESHIFT MUTATION | CONGENITAL-ANOMALIES | TRACT MALFORMATIONS | HEPATOCYTE NUCLEAR FACTOR-1-BETA | GENOME-WIDE ASSOCIATION
Journal Article
American Journal of Nephrology, ISSN 0250-8095, 01/2015, Volume 42, p. 85
Background: Autosomal dominant tubulointerstitial kidney disease subtype HNF1B (ADTKD-HNF1B) is caused by a mutation in hepatocyte nuclear factor 1 homeobox... 
ADTKD-HNF1B | CAKUT | RCAD | Nephrology | Research Support, Non-U.S. Gov't | HNF1B | Review | MODY5 | Hypomagnesemia | Journal Article | Case Reports
Journal Article
Journal of Urology, The, ISSN 0022-5347, 2012, Volume 187, Issue 1, pp. 272 - 278
Purpose Although the cause of prune belly syndrome is unknown, familial evidence suggests a genetic component. Recently 2 nonfamilial cases of prune belly... 
Urology | prune belly syndrome | medical | genetics | HNF1B protein | human | genetics, medical | RENAL CYSTS | HNF1B protein, human | DISEASE | SIBLINGS | UROLOGY & NEPHROLOGY | MUTATIONS | HEPATOCYTE NUCLEAR FACTOR-1-BETA | DELETION | Prune Belly Syndrome - genetics | Prospective Studies | Humans | Female | Male | Mutation | Hepatocyte Nuclear Factor 1-beta - genetics
Journal Article
CLINICAL AND EXPERIMENTAL NEPHROLOGY, ISSN 1342-1751, 09/2019, Volume 23, Issue 9, pp. 1119 - 1129
Background Hepatocyte nuclear factor 1 beta (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). Moreover, various phenotypes... 
Hypomagnesaemia | GENE | Gout | DISEASE | HNF1B MUTATIONS | UROLOGY & NEPHROLOGY | Renal malformations | HNF1B | Diabetes | SPECTRUM | KIDNEY | Liver abnormality | Phenotypes | Kidneys | Congenital defects | Diabetes mellitus | Urinary tract | Hybridization | Genetic screening | Hyperuricemia | Clonal deletion | Cysts | Mutation | Pancreas | Urogenital system | Hypomagnesemia | Chromosome 17 | Genotypes
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 789 - 802
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome... 
CAKUT | SETBP1 | EYA1 | SIX5 | WNT5A | HSPA4L | HNF1B | GATA3 | PAX2 | Genetics(clinical) | Genetics | GENETIC-VARIATION | ANOMALIES | ABNORMALITIES | URINARY-TRACT | CANDIDATE GENES | DISEASE | GENETICS & HEREDITY | RISK | RENAL HYPODYSPLASIA | EPIDEMIOLOGY | CHILDREN
Journal Article
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 07/2019, Volume 10, Issue 1, pp. 1 - 11
Here we train cis-regulatory models of prostate tissue gene expression and impute expression transcriptome-wide for 233,955 European ancestry men (14,616... 
PANEL | FUSION | METAANALYSIS | GENE | VARIANTS | GENOTYPE IMPUTATION | ANNOTATION | MULTIDISCIPLINARY SCIENCES | TMPRSS2 | HNF1B | EXPRESSION | Regulators | Genes | Health risks | Risk | Genomes | Gene expression | Ethnic factors | Replicating | Transcription activation | Regulatory mechanisms (biology) | Prostate cancer | Prostate | Cancer
Journal Article
by Al Olama, Ali Amin and Dadaev, Tokhir and Hazelett, Dennis J and Li, Qiuyan and Leongamornlert, Daniel and Saunders, Edward J and Stephens, Sarah and Cieza-Borrella, Clara and Whitmore, Ian and Garcia, Sara Benlloch and Giles, Graham G and Southey, Melissa C and Fitzgerald, Liesel and Gronberg, Henrik and Wiklund, Fredrik and Aly, Markus and Henderson, Brian E and Schumacher, Fredrick and Haiman, Christopher A and Schleutker, Johanna and Wahlfors, Tiina and Tammela, Teuvo L and Nordestgaard, Børge G and Key, Tim J and Travis, Ruth C and Neal, David E and Donovan, Jenny L and Hamdy, Freddie C and Pharoah, Paul and Pashayan, Nora and Khaw, Kay-Tee and Stanford, Janet L and Thibodeau, Stephen N and Mcdonnell, Shannon K and Schaid, Daniel J and Maier, Christiane and Vogel, Walther and Luedeke, Manuel and Herkommer, Kathleen and Kibel, Adam S and Cybulski, Cezary and Wokolorczyk, Dominika and Kluzniak, Wojciech and Cannon-Albright, Lisa and Brenner, Hermann and Butterbach, Katja and Arndt, Volker and Park, Jong Y and Sellers, Thomas and Lin, Hui-Yi and Slavov, Chavdar and Kaneva, Radka and Mitev, Vanio and Batra, Jyotsna and Clements, Judith A and Spurdle, Amanda and Teixeira, Manuel R and Paulo, Paula and Maia, Sofia and Pandha, Hardev and Michael, Agnieszka and Kierzek, Andrzej and Govindasami, Koveela and Guy, Michelle and Lophatonanon, Artitaya and Muir, Kenneth and Viñuela, Ana and Brown, Andrew A and Freedman, Mathew and Conti, David V and Easton, Douglas and Coetzee, Gerhard A and Eeles, Rosalind A and Kote-Jarai, Zsofia and COGS-CRUK GWAS-ELLIPSE Part GAME-O and Australian Prostate Canc BioResour and UK ProtecT Study Collaborators and PRACTICAL Consortium and UK Genetic Prostate Canc Study Col and Australian Prostate Cancer BioResource and UK Genetic Prostate Cancer Study Collaborators and COGS-CRUK GWAS-ELLIPSE (Part of GAME-ON) Initiative and The PRACTICAL Consortium and The Australian Prostate Cancer BioResource and The UK Genetic Prostate Cancer Study Collaborators and The UK ProtecT Study Collaborators
Human Molecular Genetics, ISSN 0964-6906, 10/2015, Volume 24, Issue 19, pp. 5589 - 5602
Journal Article