Found: 19
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Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.682565
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- Publication type:
- Article
MYH9 mutation and lupus erythematosus.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 3, p. 519, doi. 10.3390/ijms20030519
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- Publication type:
- Article
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 12, p. 2496, doi. 10.1093/ndt/gfac006
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- Publication type:
- Article
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.
- Published in:
- 2015
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- Publication type:
- journal article
A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.
- Published in:
- Nefrologia, 2016, v. 36, n. 3, p. 304, doi. 10.1016/j.nefro.2015.04.006
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- Publication type:
- Article
Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.
- Published in:
- 2016
- By:
- Publication type:
- Report
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
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 7, p. 1175, doi. 10.1007/s00467-018-3985-4
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- Publication type:
- Article
Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Pseudohypoaldosteronism Type 1 due to a Novel Mutation in the Mineralocorticoid Receptor Gene.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0161802
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- Publication type:
- Article
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
- Published in:
- Clinical Nephrology, 2012, v. 78, n. 1, p. 47, doi. 10.5414/CN107320
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- Publication type:
- Article
Comprehensive analysis of glomerular mRNA expression of pro- and antithrombotic genes in atypical haemolytic-uremic syndrome (aHUS).
- Published in:
- Virchows Archiv: European Journal of Pathology, 2013, v. 462, n. 4, p. 455, doi. 10.1007/s00428-013-1386-4
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- Publication type:
- Article
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations.
- Published in:
- World Journal of Pediatrics, 2012, v. 8, n. 2, p. 177, doi. 10.1007/s12519-011-0295-3
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- Publication type:
- Article
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 60, doi. 10.1002/humu.9349
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- Publication type:
- Article
MYH9 mutation and lupus erythematosus.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
A 21-year-old woman with progressive asymptomatic skin laxity in flexural regions.
- Published in:
- Clinical & Experimental Dermatology, 2023, v. 48, n. 10, p. 1198, doi. 10.1093/ced/llad170
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- Publication type:
- Article
Polymorphisms of the insertion / deletion ACE and M235T AGT genes and hypertension: surprising new findings and meta-analysis of data.
- Published in:
- BMC Nephrology, 2005, v. 6, p. 1, doi. 10.1186/1471-2369-6-1
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- Publication type:
- Article