Found: 46
Select item for more details and to access through your institution.
Immunohistological analysis reveals IgG1-dominant immunophenotype of tubulointerstitial nephritis unassociated with IgG4-related diseases.
- Published in:
- International Urology & Nephrology, 2024, v. 56, n. 7, p. 2363, doi. 10.1007/s11255-024-03966-1
- By:
- Publication type:
- Article
Tonsillectomy combined with intravenous methylprednisolone pulse for Japanese children with severe IgA vasculitis with nephritis—authors' reply.
- Published in:
- 2024
- By:
- Publication type:
- Letter to the Editor
Rituximab in combination with cyclosporine and steroid pulse therapy for childhood-onset multidrug-resistant nephrotic syndrome: a multicenter single-arm clinical trial (JSKDC11 trial).
- Published in:
- Clinical & Experimental Nephrology, 2024, v. 28, n. 4, p. 337, doi. 10.1007/s10157-023-02431-0
- By:
- Publication type:
- Article
Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children.
- Published in:
- 2024
- By:
- Publication type:
- Letter to the Editor
Long-term outcome of combination therapy with corticosteroids, mizoribine and RAS inhibitors as initial therapy for severe childhood IgA vasculitis with nephritis.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 12, p. 4023, doi. 10.1007/s00467-023-06052-3
- By:
- Publication type:
- Article
iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05203-4
- By:
- Publication type:
- Article
All reported non-canonical splice site variants in GLA cause aberrant splicing.
- Published in:
- Clinical & Experimental Nephrology, 2023, v. 27, n. 9, p. 737, doi. 10.1007/s10157-023-02361-x
- By:
- Publication type:
- Article
Is influenza vaccination associated with nephrotic syndrome relapse in children? A multicenter prospective study.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 7, p. 2107, doi. 10.1007/s00467-022-05783-z
- By:
- Publication type:
- Article
Steroid resistant nephrotic syndrome with collapsing focal segmental glomerulosclerosis in a 12-year-old Japanese female after SARS-CoV-2 vaccination.
- Published in:
- Journal of Nephrology (JNonline), 2023, v. 36, n. 5, p. 1435, doi. 10.1007/s40620-023-01577-0
- By:
- Publication type:
- Article
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37985-w
- By:
- Publication type:
- Article
Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.
- Published in:
- Clinical & Experimental Nephrology, 2023, v. 27, n. 3, p. 218, doi. 10.1007/s10157-022-02294-x
- By:
- Publication type:
- Article
Clinical and pathological investigation of oligomeganephronia.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 3, p. 757, doi. 10.1007/s00467-022-05687-y
- By:
- Publication type:
- Article
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Detecting pathogenic deep intronic variants in Gitelman syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2576, doi. 10.1002/ajmg.a.62885
- By:
- Publication type:
- Article
An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 9, p. 1957, doi. 10.1007/s00467-021-05401-4
- By:
- Publication type:
- Article
Use of renin-angiotensin system inhibitors as initial therapy in children with Henoch–Schönlein purpura nephritis of moderate severity.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 8, p. 1845, doi. 10.1007/s00467-021-05395-z
- By:
- Publication type:
- Article
Efficacy of combination therapy for childhood complicated focal IgA nephropathy.
- Published in:
- Clinical & Experimental Nephrology, 2022, v. 26, n. 6, p. 561, doi. 10.1007/s10157-022-02190-4
- By:
- Publication type:
- Article
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
- Published in:
- Clinical & Experimental Nephrology, 2022, v. 26, n. 2, p. 140, doi. 10.1007/s10157-021-02135-3
- By:
- Publication type:
- Article
Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Children.
- Published in:
- Journal of Autism & Developmental Disorders, 2022, v. 52, n. 2, p. 483, doi. 10.1007/s10803-021-04941-w
- By:
- Publication type:
- Article
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 2, p. 262, doi. 10.1093/ndt/gfab274
- By:
- Publication type:
- Article
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
- Published in:
- Clinical & Experimental Nephrology, 2021, v. 25, n. 11, p. 1224, doi. 10.1007/s10157-021-02099-4
- By:
- Publication type:
- Article
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95521-6
- By:
- Publication type:
- Article
Utility of glomerular Gd-IgA1 staining for indistinguishable cases of IgA nephropathy or Alport syndrome.
- Published in:
- Clinical & Experimental Nephrology, 2021, v. 25, n. 7, p. 779, doi. 10.1007/s10157-021-02054-3
- By:
- Publication type:
- Article
An "old and new" complication in a child with nephrotic syndrome: Questions.
- Published in:
- 2021
- By:
- Publication type:
- Test/Instrument
An "old and new" complication in a child with nephrotic syndrome: Answers.
- Published in:
- 2021
- By:
- Publication type:
- Test/Instrument
Correction to: Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 12, p. 2319, doi. 10.1007/s00467-020-04701-5
- By:
- Publication type:
- Article
Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71101-y
- By:
- Publication type:
- Article
Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1342
- By:
- Publication type:
- Article
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.
- Published in:
- Clinical & Experimental Nephrology, 2020, v. 24, n. 7, p. 606, doi. 10.1007/s10157-020-01876-x
- By:
- Publication type:
- Article
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16605-x
- By:
- Publication type:
- Article
Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy.
- Published in:
- Pediatrics International, 2020, v. 62, n. 4, p. 428, doi. 10.1111/ped.14089
- By:
- Publication type:
- Article
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.883
- By:
- Publication type:
- Article
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1315, doi. 10.1002/ajmg.a.61159
- By:
- Publication type:
- Article
Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.
- Published in:
- Clinical & Experimental Nephrology, 2019, v. 23, n. 5, p. 669, doi. 10.1007/s10157-018-1682-z
- By:
- Publication type:
- Article
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
- Published in:
- Clinical & Experimental Nephrology, 2019, v. 23, n. 2, p. 158, doi. 10.1007/s10157-018-1629-4
- By:
- Publication type:
- Article
The utility of urinary CD80 as a diagnostic marker in patients with renal diseases.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35798-2
- By:
- Publication type:
- Article
Study protocol: mycophenolate mofetil as maintenance therapy after rituximab treatment for childhood-onset, complicated, frequently-relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicenter double-blind, randomized, placebo-controlled trial (JSKDC07).
- Published in:
- 2018
- By:
- Publication type:
- journal article
Three Severe Cases of Viral Infections with Post-Kidney Transplantation Successfully Confirmed by Polymerase Chain Reaction and Flow Cytometry.
- Published in:
- Case Reports in Nephrology & Dialysis, 2018, v. 8, n. 3, p. 198, doi. 10.1159/000493092
- By:
- Publication type:
- Article
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.
- Published in:
- Clinical & Experimental Nephrology, 2018, v. 22, n. 4, p. 881, doi. 10.1007/s10157-018-1534-x
- By:
- Publication type:
- Article
Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits.
- Published in:
- Respiration, 2018, v. 95, n. 2, p. 166, doi. 10.1159/000484209
- By:
- Publication type:
- Article
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Diagnostic strategy for inherited hypomagnesemia.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 6, p. 1003, doi. 10.1007/s10157-017-1396-7
- By:
- Publication type:
- Article
Female X-linked Alport syndrome with somatic mosaicism.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 5, p. 877, doi. 10.1007/s10157-016-1352-y
- By:
- Publication type:
- Article
Clinical characteristics and long-term outcome of diarrhea-associated hemolytic uremic syndrome: a single center experience.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 5, p. 889, doi. 10.1007/s10157-016-1376-3
- By:
- Publication type:
- Article
Yersinia pseudotuberculosis infection in Kawasaki disease and its clinical characteristics.
- Published in:
- 2015
- By:
- Publication type:
- journal article