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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
Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.
- Published in:
- Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00031-4
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- Publication type:
- Article
Many lessons still to learn about autosomal dominant polycystic kidney disease.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00017-8
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- Publication type:
- Article
UMOD and you! Explaining a rare disease diagnosis.
- Published in:
- Journal of Rare Diseases, 2022, v. 1, n. 1, p. 1, doi. 10.1007/s44162-022-00005-4
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- Publication type:
- Article
Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.
- Published in:
- Nephron, 2024, v. 148, n. 8, p. 569, doi. 10.1159/000538037
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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
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
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 171, doi. 10.1186/s13023-014-0171-z
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- Publication type:
- Article
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.
- Published in:
- 2014
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- Publication type:
- journal article
Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 369, doi. 10.3390/ijms21010369
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- Publication type:
- Article
The Pyrophosphate Transporter ANKH is Expressed in Kidney and Bone Cells and Colocalises to the Primary Cilium/Basal Body Complex.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2009, v. 24, n. 5/6, p. 595, doi. 10.1159/000257515
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- Publication type:
- Article
Expression and Localisation of the Pyrophosphate Transporter, ANK, in Murine Kidney Cells.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2007, v. 20, n. 5, p. 507, doi. 10.1159/000107534
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- Publication type:
- Article
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
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
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
- Published in:
- Physiological Reports, 2018, v. 6, n. 12, p. 1, doi. 10.14814/phy2.13715
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- Publication type:
- Article
Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 9, p. 1, doi. 10.1002/mgg3.2201
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- Publication type:
- Article
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1603
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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
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
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
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
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
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
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- Publication type:
- Letter
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
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 211, doi. 10.1007/s00439-019-01978-x
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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
Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.
- Published in:
- 2020
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- Publication type:
- journal article
Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.
- Published in:
- 2020
- By:
- Publication type:
- journal 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
A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
- Published in:
- BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-527
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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
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
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3657, doi. 10.1172/JCI80657
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- Publication type:
- Article
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
- Published in:
- Urolithiasis, 2020, v. 48, n. 4, p. 337, doi. 10.1007/s00240-020-01187-6
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- Publication type:
- Article
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.
- Published in:
- Urolithiasis, 2019, v. 47, n. 6, p. 511, doi. 10.1007/s00240-019-01116-2
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- Publication type:
- Article
A preliminary survey of practice patterns across several European kidney stone centers and a call for action in developing shared practice.
- Published in:
- Urolithiasis, 2019, v. 47, n. 3, p. 219, doi. 10.1007/s00240-019-01119-z
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- Publication type:
- Article
Precision medicine in renal stone-formers.
- Published in:
- Urolithiasis, 2019, v. 47, n. 1, p. 99, doi. 10.1007/s00240-018-1091-5
- By:
- Publication type:
- Article
Cutaneous manifestations of acute kidney injury.
- Published in:
- Clinical Kidney Journal, 2022, v. 15, n. 5, p. 855, doi. 10.1093/ckj/sfab255
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- Publication type:
- Article
Novel pathogenic MAPKBP1 variant in a family with nephronophthisis.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 2, p. 728, doi. 10.1093/ckj/sfaa090
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- Publication type:
- Article