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Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion.
- Published in:
- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0530-z
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- Publication type:
- Article
RET gene mutations are not a common cause of congenital solitary functioning kidney in adults.
- Published in:
- NDT Plus, 2009, v. 2, n. 2, p. 183, doi. 10.1093/ndtplus/sfn204
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- Publication type:
- Article
Late presentation of toxoplasmosis in renal transplant recipients.
- Published in:
- NDT Plus, 2010, v. 3, n. 5, p. 480, doi. 10.1093/ndtplus/sfq113
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- Publication type:
- Article
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.
- Published in:
- 2017
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- Publication type:
- journal article
Comment on a recent article titled 'Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia'.
- Published in:
- Journal of Diabetes Investigation, 2024, v. 15, n. 6, p. 790, doi. 10.1111/jdi.14137
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- Publication type:
- Article
The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay.
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 214, doi. 10.1007/s00439-005-0023-y
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- Publication type:
- Article
Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations.
- Published in:
- 2004
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- Publication type:
- journal article
Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic.
- Published in:
- Clinical Kidney Journal, 2018, v. 11, n. 4, p. 453, doi. 10.1093/ckj/sfx150
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- Publication type:
- Article
A case of acute tubulointerstitial nephritis following administration of the Oxford-AstraZeneca COVID-19 vaccine: a case report.
- Published in:
- BMC Nephrology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12882-023-03089-2
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- Publication type:
- Article
Recent insights into kidney diseases associated with glomerular cysts.
- Published in:
- Pediatric Nephrology, 2002, v. 17, n. 4, p. 229, doi. 10.1007/s00467-001-0819-5
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- Publication type:
- Article
The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria.
- Published in:
- 2001
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- Publication type:
- journal article
The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/5597005
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- Publication type:
- Article
RET gene mutations are not a common cause of congenital solitary functioning kidney in adults.
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 2, n. 2, p. 183, doi. 10.1093/ndtplus/sfn204
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- Publication type:
- Article
Whole gene deletion of the hepatocyte nuclear factor-1{beta} gene in a patient with the prune-belly syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2008, v. 23, n. 7, p. 2412, doi. 10.1093/ndt/gfn169
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- Publication type:
- Article
Hepatocyte nuclear factor-1{beta} gene deletions--a common cause of renal disease.
- Published in:
- Nephrology Dialysis Transplantation, 2008, v. 23, n. 2, p. 627
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- Publication type:
- Article
Renal failure complicating myeloma in pregnancy.
- Published in:
- Nephrology Dialysis Transplantation, 2007, v. 22, n. 12, p. 3652, doi. 10.1093/ndt/gfm277
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- Publication type:
- Article
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred.
- Published in:
- Nephrology Dialysis Transplantation, 2007, v. 22, n. 1, p. 259
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- Publication type:
- Article
Mutation analyses of Uroplakin II in children with renal tract malformations.
- Published in:
- Nephrology Dialysis Transplantation, 2006, v. 21, n. 12, p. 3415, doi. 10.1093/ndt/gfl465
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- Publication type:
- Article
Right atrial thrombus as a complication of a temporary haemodialysis cathetera potentially avoidable complication.
- Published in:
- Nephrology Dialysis Transplantation, 2005, v. 20, n. 2, p. 474, doi. 10.1093/ndt/gfh626
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- Publication type:
- Article
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1.
- Published in:
- Nephrology Dialysis Transplantation, 2004, v. 19, n. 11, p. 2703, doi. 10.1093/ndt/gfh348
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- Publication type:
- Article
Kidney disease in hypomelanosis of Ito.
- Published in:
- Nephrology Dialysis Transplantation, 2001, v. 16, n. 6, p. 1267, doi. 10.1093/ndt/16.6.1267
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- Publication type:
- Article
Remission of Membranous Nephropathy after Treatment of Localised Prostate Cancer.
- Published in:
- Case Reports in Nephrology & Dialysis, 2019, v. 9, n. 2, p. 79, doi. 10.1159/000500948
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- Publication type:
- Article
Hypogammaglobulinemia and bronchiectasis in mycophenolate mofetil-treated renal transplant recipients: an emerging clinical phenomenon?
- Published in:
- Clinical Transplantation, 2011, v. 25, n. 3, p. 417, doi. 10.1111/j.1399-0012.2010.01255.x
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- Publication type:
- Article
Acute tubulointerstitial nephritis, treatment with steroid and impact on renal outcomes.
- Published in:
- Nephrology, 2012, v. 17, n. 8, p. 748, doi. 10.1111/j.1440-1797.2012.01648.x
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- Publication type:
- Article
Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( ) Molecular Defects. Diabetes Care 2017;40:1436-1443.
- Published in:
- 2018
- By:
- Publication type:
- Letter
The renal cysts and diabetes (RCAD) syndrome in a child with deletion of the hepatocyte nuclear factor-1β gene.
- Published in:
- 2010
- By:
- Publication type:
- journal article
The Renal Cysts and Diabetes (RCAD) Syndrome in a Child with Deletion of the Hepatocyte Nuclear Factor-1β Gene.
- Published in:
- Indian Journal of Pediatrics, 2010, v. 77, n. 12, p. 1429, doi. 10.1007/s12098-010-0215-x
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- Publication type:
- Article
Transcription factor HNF1beta and novel partners affect nephrogenesis.
- Published in:
- 2008
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- Publication type:
- journal article
Transcription factor HNF1β and novel partners affect nephrogenesis.
- Published in:
- Kidney International, 2008, v. 74, n. 2, p. 210, doi. 10.1038/ki.2008.149
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- Publication type:
- Article
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation.
- Published in:
- Kidney International, 2003, v. 63, n. 5, p. 1645, doi. 10.1046/j.1523-1755.2003.00903.x
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- Publication type:
- Article
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
- Published in:
- 2000
- By:
- Publication type:
- journal article