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Last Updated: 01/07/2026

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Found 2788 publications

A novel COL4A5 splicing variant in alport syndrome presenting with extreme myopia.

A novel COL4A5 splicing variant in alport syndrome presenting with extreme myopia.

Journal: Ophthalmic genetics
Published: December 16, 2025

Correction: From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome.

Correction: From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome.

Journal: Pediatric nephrology (Berlin, Germany)
Published: December 11, 2025

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.

Journal: medRxiv : the preprint server for health sciences
Published: November 26, 2025

Case report: Surgical and clinical results in bilateral lenticonus due to Alport syndrome.

Case report: Surgical and clinical results in bilateral lenticonus due to Alport syndrome.

Journal: Romanian journal of ophthalmology
Published: November 05, 2025

Corrigendum to "Discoidin domain receptor 1 activation links extracellular matrix to podocyte lipotoxicity in Alport syndrome" eBioMedicine, Volume 63, January 2021, 103162.

Corrigendum to "Discoidin domain receptor 1 activation links extracellular matrix to podocyte lipotoxicity in Alport syndrome" eBioMedicine, Volume 63, January 2021, 103162.

Journal: EBioMedicine
Published: November 01, 2025

From Data to Drug: The Translational Impact of RaDaR, the UK National Registry of Rare Kidney Diseases.

From Data to Drug: The Translational Impact of RaDaR, the UK National Registry of Rare Kidney Diseases.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: October 25, 2025

Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.

Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.

Journal: Renal failure
Published: October 14, 2025

Electron Microscopy in Renal Biopsy Interpretation: When and Why It Still Matters.

Electron Microscopy in Renal Biopsy Interpretation: When and Why It Still Matters.

Journal: Cureus
Published: October 11, 2025

Nephrotic syndrome as the first symptom in Alport syndrome children.

Nephrotic syndrome as the first symptom in Alport syndrome children.

Journal: Clinical nephrology
Published: October 09, 2025

An Elusive Diagnosis of Autosomal Dominant Alport Syndrome: Genomic Sequencing Is a Game Changer.

An Elusive Diagnosis of Autosomal Dominant Alport Syndrome: Genomic Sequencing Is a Game Changer.

Journal: Cureus
Published: October 07, 2025

Severe Clinical Phenotype in Alport Syndrome Due to 2 COL4A4 Exon-Skipping Events.

Severe Clinical Phenotype in Alport Syndrome Due to 2 COL4A4 Exon-Skipping Events.

Journal: Kidney medicine
Published: October 06, 2025

Effect of 2-Hydroxypropyl-γ-cyclodextrin on Renal Inflammation in Alport Mouse Model.

Effect of 2-Hydroxypropyl-γ-cyclodextrin on Renal Inflammation in Alport Mouse Model.

Journal: Biological & pharmaceutical bulletin
Published: October 01, 2025
Showing 1-12 of 2,788

Last Updated: 01/07/2026