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PAX3 Is Expressed in the Stromal Compartment of the Developing Kidney and in Wilms Tumors with Myogenic Phenotype.
- Published in:
- Pediatric & Developmental Pathology, 2009, v. 12, n. 5, p. 347, doi. 10.2350/08-05-0466.1
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- Article
T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease.
- Published in:
- 2011
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- Publication type:
- journal article
T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease.
- Published in:
- Kidney International, 2011, v. 80, n. 2, p. 146, doi. 10.1038/ki.2011.56
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- Publication type:
- Article
A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid.
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- Kidney International, 2010, v. 78, n. 1, p. 96, doi. 10.1038/ki.2010.101
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- Publication type:
- Article
Renal Chloride Channel, CLCN5, Mutations in Dent's Disease.
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- Journal of Bone & Mineral Research, 1999, v. 14, n. 9, p. 1536, doi. 10.1359/jbmr.1999.14.9.1536
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- Publication type:
- Article
A Phase I Study of Chemically Synthesized Verotoxin (Shiga-like Toxin) Pk-Trisaccharide Receptors Attached to Chromosorb for Preventing Hemolytic-Uremic Syndrome.
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- Journal of Infectious Diseases, 1995, v. 171, n. 4, p. 1042, doi. 10.1093/infdis/171.4.1042
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- Publication type:
- Article
Stem Cell Microvesicles Transfer Cystinosin to Human Cystinotic Cells and Reduce Cystine Accumulation In Vitro.
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- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042840
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- Publication type:
- Article
Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness.
- Published in:
- Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/605053
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- Publication type:
- Article
WT1 is a modifier of the Pax2 mutant phenotype: cooperation and interaction between WT1 and Pax2.
- Published in:
- Oncogene, 2003, v. 22, n. 50, p. 8145, doi. 10.1038/sj.onc.1206997
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- Publication type:
- Article
Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival.
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- Oncogene, 2003, v. 22, n. 39, p. 6045, doi. 10.1038/sj.onc.1206766
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- Publication type:
- Article
Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 671, doi. 10.1038/sj.ejhg.5200349
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- Publication type:
- Article
Reduction of protein excretion by dimethyl sulfoxide in rats with passive Heymann nephritis.
- Published in:
- Kidney International, 1984, v. 25, n. 5, p. 778, doi. 10.1038/ki.1984.90
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- Publication type:
- Article
The novel aminoglycoside, ELX-02, permits CTNS<sup>W138X</sup> translational read-through and restores lysosomal cystine efflux in cystinosis.
- Published in:
- PLoS ONE, 2019, v. 14, n. 12, p. 1, doi. 10.1371/journal.pone.0223954
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- Publication type:
- Article
Transition From Pediatric to Adult Nephrology Care: Program Report of a Single-Center Experience.
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- Canadian Journal of Kidney Health & Disease, 2023, p. 1, doi. 10.1177/20543581231191836
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- Publication type:
- Article
Transition From Pediatric to Adult Nephrology Care: Program Report of a Single-Center Experience.
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- Canadian Journal of Kidney Health & Disease, 2023, v. 10, p. 1, doi. 10.1177/20543581231191836
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- Publication type:
- Article
A no-nonsense approach to hereditary kidney disease.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 11, p. 2031, doi. 10.1007/s00467-019-04394-5
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- Publication type:
- Article
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis.
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- Pediatric Nephrology, 2019, v. 34, n. 5, p. 873, doi. 10.1007/s00467-018-4094-0
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- Publication type:
- Article
Use of genomic and functional analysis to characterize patients with steroid-resistant nephrotic syndrome.
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- Pediatric Nephrology, 2018, v. 33, n. 10, p. 1741, doi. 10.1007/s00467-018-3995-2
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- Publication type:
- Article
Priming the renal progenitor cell.
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- Pediatric Nephrology, 2014, v. 29, n. 4, p. 705, doi. 10.1007/s00467-013-2685-3
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- Publication type:
- Article
TNFα pathway blockade ameliorates toxic effects of FSGS plasma on podocyte cytoskeleton and β3 integrin activation.
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- Pediatric Nephrology, 2012, v. 27, n. 12, p. 2217, doi. 10.1007/s00467-012-2163-3
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- Publication type:
- Article
TNFα pathway blockade ameliorates toxic effects of FSGS plasma on podocyte cytoskeleton and β3 integrin activation.
- Published in:
- 2012
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- Publication type:
- Journal Article
Natural history of adolescent-onset cystinosis.
- Published in:
- 2011
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- Publication type:
- Report
Plasma from a case of recurrent idiopathic FSGS perturbs non-muscle myosin IIA (MYH9 protein) in human podocytes.
- Published in:
- Pediatric Nephrology, 2011, v. 26, n. 7, p. 1071, doi. 10.1007/s00467-011-1831-z
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- Publication type:
- Article
Wilms tumor arising in a child with X-linked nephrogenic diabetes insipidus.
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- Pediatric Nephrology, 2009, v. 24, n. 7, p. 1313, doi. 10.1007/s00467-009-1147-4
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- Publication type:
- Article
Common variants of the glial cell-derived neurotrophic factor gene do not influence kidney size of the healthy newborn.
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- Pediatric Nephrology, 2009, v. 24, n. 6, p. 1151, doi. 10.1007/s00467-008-1097-2
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- Publication type:
- Article
Effects of maternal vitamin A status on kidney development: a pilot study.
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- Pediatric Nephrology, 2007, v. 22, n. 2, p. 209, doi. 10.1007/s00467-006-0213-4
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- Publication type:
- Article
Renal hypoplasia: lessons from Pax2.
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- Pediatric Nephrology, 2006, v. 21, n. 1, p. 26, doi. 10.1007/s00467-005-2039-x
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- Publication type:
- Article
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
- Published in:
- 2005
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- Publication type:
- Report
The safety and use of short-acting nifedipine in hospitalized hypertensive children.
- Published in:
- Pediatric Nephrology, 2004, v. 19, n. 6, p. 644, doi. 10.1007/s00467-004-1444-x
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- Publication type:
- Article
PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia.
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- Pediatric Nephrology, 1999, v. 13, n. 7, p. 607, doi. 10.1007/s004670050669
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- Publication type:
- Article
Hypercalcemia of the newborn: etiology, evaluation, and management.
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- Pediatric Nephrology, 1999, v. 13, n. 6, p. 542, doi. 10.1007/s004670050654
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- Publication type:
- Article
Clinical features of X-linked nephrolithiasis in childhood.
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- Pediatric Nephrology, 1998, v. 12, n. 8, p. 625, doi. 10.1007/s004670050516
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- Publication type:
- Article
A variant OSR1 allele which disturbs OSR1 mRNA expression in renal progenitor cells is associated with reduction of newborn kidney size and function.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 21, p. 4167, doi. 10.1093/hmg/ddr341
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- Publication type:
- Article
The relationship of diabetic retinopathy to preclinical diabetic glomerulopathy lesions in type 1 diabetic patients: the Renin-Angiotensin System Study.
- Published in:
- 2005
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- Publication type:
- journal article
WNT/β-Catenin Signaling Is Required for Integration of CD<sub>24+</sub> Renal Progenitor Cells into Glycerol-Damaged Adult Renal Tubules.
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- Stem Cells International, 2015, v. 2015, p. 1, doi. 10.1155/2015/391043
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- Publication type:
- Article
Phase 1 Renal Impairment Trial Results Supports Targeted Individualized Dosing of ELX‐02 in Patients With Nephropathic Cystinosis.
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- Journal of Clinical Pharmacology, 2021, v. 61, n. 7, p. 923, doi. 10.1002/jcph.1807
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- Publication type:
- Article
Nephropathic cystinosis: an international consensus document.
- Published in:
- Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv87, doi. 10.1093/ndt/gfu090
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- Article
Comparing the automated versus manual method of needle biopsy for renal histology artefacts.
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- Nephrology Dialysis Transplantation, 2008, v. 23, n. 6, p. 2098
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- Publication type:
- Article
Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 8, p. 1543, doi. 10.1093/hmg/ddp050
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- Publication type:
- Article
Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 24, p. 3520, doi. 10.1093/hmg/ddl428
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- Publication type:
- Article
Recurrent Focal Segmental Glomerulosclerosis: A Discrete Clinical Entity.
- Published in:
- 2012
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- Publication type:
- Journal Article
The History of Cystinosis: Lessons for Clinical Management.
- Published in:
- 2011
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- Publication type:
- Journal Article
Recurrent Focal Segmental Glomerulosclerosis: A Discrete Clinical Entity.
- Published in:
- International Journal of Nephrology, 2012, p. 1, doi. 10.1155/2012/246128
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- Publication type:
- Article
The History of Cystinosis: Lessons for Clinical Management.
- Published in:
- International Journal of Nephrology, 2011, p. 1, doi. 10.4061/2011/929456
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- Publication type:
- Article
Turner's syndrome, 46X, del (X) (p 11), persistent complement activation and membranoproliferative glomerulonephritis.
- Published in:
- 1982
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- Publication type:
- journal article
Intrinsic tumor necrosis factor-α pathway is activated in a subset of patients with focal segmental glomerulosclerosis.
- Published in:
- PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0216426
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- Publication type:
- Article
Molecular determinants of WNT9b responsiveness in nephron progenitor cells.
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- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0215139
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- Publication type:
- Article
Mutations in the gene encoding B1 subunit of H<sup>+</sup>-ATPase cause renal tubular acidosis with sensorineural deafness.
- Published in:
- Nature Genetics, 1999, v. 21, n. 1, p. 84, doi. 10.1038/5022
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- Publication type:
- Article
Transient neonatal cystinuria.
- Published in:
- 2005
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- Publication type:
- journal article
SLC7A9 mutations in all three cystinuria subtypes.
- Published in:
- Kidney International, 2002, v. 62, n. 5, p. 1550, doi. 10.1046/j.1523-1755.2002.00602.x
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- Publication type:
- Article