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Prevalence and characteristics of genetic disease in adult kidney stone formers.
- Published in:
- Nephrology Dialysis Transplantation, 2024, v. 39, n. 9, p. 1426, doi. 10.1093/ndt/gfae074
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- Publication type:
- Article
Sarcoidosis presenting with hypercalcaemia following withdrawal of long-term immunosuppression in renal transplantation.
- Published in:
- 2014
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- Publication type:
- Case Study
RIPK3 Contributes to Lyso-Gb3-Induced Podocyte Death.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 2, p. 245, doi. 10.3390/cells10020245
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- Publication type:
- Article
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 7, p. 480, doi. 10.1038/jhg.2013.27
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- Publication type:
- Article
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 9, p. 1615, doi. 10.1007/s00467-019-04267-x
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- Publication type:
- Article
Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly-questions.
- Published in:
- Pediatric Nephrology, 2011, v. 26, n. 12, p. 2153, doi. 10.1007/s00467-011-1786-0
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- Publication type:
- Article
Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly: answers.
- Published in:
- Pediatric Nephrology, 2011, v. 26, n. 12, p. 2155, doi. 10.1007/s00467-011-1790-4
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- Publication type:
- Article
Sphingosine phosphate lyase insufficiency syndrome: a systematic review.
- Published in:
- World Journal of Pediatrics, 2023, v. 19, n. 5, p. 425, doi. 10.1007/s12519-022-00615-4
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- Publication type:
- Article
Post-transplant diabetes.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
CYP24A1 mutations and hypervitaminosis D.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family.
- Published in:
- NDT Plus, 2011, v. 4, n. 6, p. 421
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- Publication type:
- Article
A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.
- Published in:
- NDT Plus, 2010, v. 3, n. 6, p. 545, doi. 10.1093/ndtplus/sfq149
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- Publication type:
- Article
Multiple thyroid cysts as an extra-renal manifestation of ADPKD.
- Published in:
- NDT Plus, 2008, v. 1, n. 4, p. 266, doi. 10.1093/ndtplus/sfn004
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- Publication type:
- Article
Emphysematous pyelonephritis leading to end-stage renal failure.
- Published in:
- NDT Plus, 2008, v. 1, n. 4, p. 264, doi. 10.1093/ndtplus/sfn002
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- Publication type:
- Article
Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development.
- Published in:
- Cellular & Molecular Life Sciences, 2012, v. 69, n. 6, p. 993, doi. 10.1007/s00018-011-0826-z
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- Publication type:
- Article
A meckelin–filamin A interaction mediates ciliogenesis.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1272, doi. 10.1093/hmg/ddr557
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- Publication type:
- Article
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 10, p. 1985, doi. 10.1093/hmg/ddq077
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- Publication type:
- Article
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 21, p. 4226, doi. 10.1093/hmg/ddp387
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- Publication type:
- Article
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3655, doi. 10.1093/hmg/ddn260
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- Publication type:
- Article
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 11, p. 1847, doi. 10.1093/hmg/ddl107
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- Publication type:
- Article
Molecular genetics of renal ciliopathies.
- Published in:
- Biochemical Society Transactions, 2021, v. 49, n. 3, p. 1205, doi. 10.1042/BST20200791
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- Publication type:
- Article
Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 369, doi. 10.3390/ijms21010369
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- Publication type:
- Article
Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).
- Published in:
- 2019
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- Publication type:
- journal article
Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101687
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- Publication type:
- Article
Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.
- Published in:
- Genes, 2020, v. 11, n. 9, p. 967, doi. 10.3390/genes11090967
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- Publication type:
- Article
The Molecular Genetics of Gordon Syndrome.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 986, doi. 10.3390/genes10120986
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- Publication type:
- Article
Nephronophthisis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 406, doi. 10.1038/ejhg.2008.238
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- Publication type:
- Article
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 1018, doi. 10.1038/ng2072
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- Publication type:
- Article
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
- Published in:
- Nature Genetics, 2006, v. 38, n. 6, p. 674, doi. 10.1038/ng1786
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- Publication type:
- Article
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 282, doi. 10.1038/ng1520
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- Publication type:
- Article
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
- Published in:
- Nephrology Dialysis Transplantation, 2023, v. 38, n. 10, p. 2120, doi. 10.1093/ndt/gfaa243
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- Publication type:
- Article
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.
- Published in:
- Nephrology Dialysis Transplantation, 2023, v. 38, n. 2, p. 271, doi. 10.1093/ndt/gfab268
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- Publication type:
- Article
update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 5, p. 825, doi. 10.1093/ndt/gfab312
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- Publication type:
- Article
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.
- Published in:
- 2017
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- Publication type:
- Case Study
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 1, p. 32, doi. 10.1007/s00467-005-2054-y
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- Publication type:
- Article
Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 109, doi. 10.1002/ajmg.c.31964
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- Publication type:
- Article
Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 330, doi. 10.1111/cge.14251
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- Publication type:
- Article
The Giant Organ of Breslau.
- Published in:
- Organists' Review, 2022, p. 19
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- Publication type:
- Article
Nicolaus Bruhns (1665-1697) A Shadowy Genius?
- Published in:
- Organists' Review, 2022, p. 23
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- Publication type:
- Article
Оновлення щодо застосування толваптану для лікування автосомно-домінантного полікістозу нирок (АДПН): консенсусна заява від імені Робочої групи ERA зі спадкових захворювань нирок, Європейської довідкової мережі з рідкісних захворювань нирок та Polycystic Kidney Disease International.
- Published in:
- Pocki, 2022, v. 11, n. 1, p. 37, doi. 10.22141/2307-1257.11.1.2022.357
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- Publication type:
- Article
Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease.
- Published in:
- Case Reports in Nephrology, 2017, p. 1, doi. 10.1155/2017/4653267
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- Publication type:
- Article
Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044975
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- Publication type:
- Article
Clinical and Functional Characterization of URAT1 Variants.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028641
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- Publication type:
- Article
CYP24A1 mutation leading to nephrocalcinosis.
- Published in:
- Kidney International, 2014, v. 85, n. 6, p. 1475, doi. 10.1038/ki.2013.416
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- Publication type:
- Article
The challenges and surprises of a definitive molecular genetic diagnosis.
- Published in:
- Kidney International, 2014, v. 85, n. 4, p. 748, doi. 10.1038/ki.2013.432
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- Publication type:
- Article
Tc99m WCC identifies occult abscess in a polycystic kidney.
- Published in:
- Kidney International, 2009, v. 75, n. 2, p. 246, doi. 10.1038/ki.2008.257
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- Publication type:
- Article
Jouberin localizes to collecting ducts and interacts with nephrocystin-1.
- Published in:
- Kidney International, 2008, v. 74, n. 9, p. 1139, doi. 10.1038/ki.2008.377
- By:
- Publication type:
- Article
Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?
- Published in:
- 2010
- By:
- Publication type:
- letter
Juvenile nephronophthisis on MRI—a potential case of Joubert syndrome?
- Published in:
- 2010
- By:
- Publication type:
- Letter
Explaining Alport syndrome—lessons from the adult nephrology clinic.
- Published in:
- Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00036-z
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- Publication type:
- Article