Sofia C. Jorge

Santa Maria, Portugal

Last Updated: 09/26/2026

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Found 45 publications

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.

Journal: bioRxiv : the preprint server for biology
Published: September 26, 2025

Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Journal: Journal of the American Society of Nephrology : JASN
Published: August 27, 2025

Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Journal: Journal of the American Society of Nephrology : JASN
Published: August 27, 2025

Purpura in a Patient With Nephritic Syndrome: A Quiz.

Purpura in a Patient With Nephritic Syndrome: A Quiz.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation
Published: March 09, 2025

External validation of a predictive model for one-year mortality in incident hemodialysis patients: A Portuguese cohort.

External validation of a predictive model for one-year mortality in incident hemodialysis patients: A Portuguese cohort.

Journal: Nefrologia
Published: November 18, 2024

Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.

Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: September 15, 2024

Acute Kidney Injury in Sepsis.

Acute Kidney Injury in Sepsis.

Journal: International journal of molecular sciences
Published: April 16, 2024

Rituximab in Steroid-Dependent Podocytopathies.

Rituximab in Steroid-Dependent Podocytopathies.

Journal: Glomerular diseases
Published: February 21, 2024

A rare association of cryoglobulinaemic vasculitis and granulomatosis with polyangiitis treated with a short course of glucocorticoids combined with cyclophosphamide and rituximab.

A rare association of cryoglobulinaemic vasculitis and granulomatosis with polyangiitis treated with a short course of glucocorticoids combined with cyclophosphamide and rituximab.

Journal: ARP rheumatology
Published: April 28, 2023

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD.

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD.

Journal: Kidney international reports
Published: September 12, 2022

Impact of Early Proteinuria Reduction in Glomerular Disease and Decline of Kidney Function: A Retrospective Cohort.

Impact of Early Proteinuria Reduction in Glomerular Disease and Decline of Kidney Function: A Retrospective Cohort.

Journal: Journal of clinical medicine
Published: July 18, 2022

Fetal Tuberous Sclerosis: Sirolimus for the Treatment of Fetal rhabdomyoma.

Fetal Tuberous Sclerosis: Sirolimus for the Treatment of Fetal rhabdomyoma.

Journal: Fetal and pediatric pathology
Published: July 20, 2021
Showing 1-12 of 45

Last Updated: 09/26/2026