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1. Establishment of an induced pluripotent stem cell line from a patient with X-linked Alport syndrome carrying a hemizygous splicing variant (NM_033380; c.929[exon 16]delG) in the collagen type IV alpha 5 chain gene.

2. Chemical chaperones to the rescue of Alport syndrome?

3. Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome.

4. Clinical Significance of the Cystic Phenotype in Alport Syndrome.

5. Tauroursodeoxycholic acid ameliorates renal injury induced by COL4A3 mutation.

6. Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.

7. Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

8. Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study.

10. Exploring the link between Alport syndrome and multiple intracranial artery stenoses: A case report of COL4A5 mutation.

11. An unusual case of nephrotic syndrome.

12. Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.

13. Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.

14. [Advances in gene therapy for Alport syndrome].

15. Genetic Causes of Nephrotic Syndrome and Focal and Segmental Glomerulosclerosis.

16. Characterization of Ocular Morphology in Col4a3-/- Mice as a Murine Model for Alport Syndrome.

17. Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant.

18. A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure.

19. Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females.

20. Coexisting presentation of two rare genetic variants of autosomal dominant polycystic kidney disease and Alport syndrome.

21. A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.

22. Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.

23. Alport Syndrome.

24. In chronic kidney disease altered cardiac metabolism precedes cardiac hypertrophy.

25. Ocular manifestations of renal ciliopathies.

26. Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling.

27. Quantitative assessment of glomerular basement membrane collagen IV α chains in paraffin sections from patients with focal segmental glomerulosclerosis and Alport gene variants.

28. Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.

29. PDGF-D Is Dispensable for the Development and Progression of Murine Alport Syndrome.

30. A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.

31. [Precision diagnosis and therapeutic intervention of Alport syndrome].

32. X-linked Alport syndrome presenting in mother and son with the same unique histopathological features.

33. Genetic reprogramming with stem cells regenerates glomerular epithelial podocytes in Alport syndrome.

34. Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.

36. Ramipril therapy in integrin α1-null, autosomal recessive Alport mice triples lifespan: mechanistic clues from RNA-seq analysis.

37. Genetic diagnosis of Alport syndrome in 16 Chinese families.

38. Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.

39. Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era.

40. [Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury].

41. Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center.

42. A case report and literature study on Alport syndrome featuring nephrotic syndrome as its primary manifestation.

43. Genetic features and kidney morphological changes in women with X-linked Alport syndrome.

44. Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports.

45. [Genetic testing and prenatal diagnosis for two Chinese pedigrees affected with Alport syndrome due to variants of COL4A5 gene].

47. COL4A gene variants are common in children with hematuria and a family history of kidney disease.

48. Effectiveness of renin-angiotensin-aldosterone system blockers in patients with Alport syndrome: a systematic review and meta-analysis.

49. Ascending aortic aneurysm and histopathology in Alport syndrome: a case report.

50. [Clinical and genetic analysis of a child with X-linked dominant Alport syndrome].

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