Detalhe da pesquisa
1.
Clinical and pathological investigation of oligomeganephronia.
Pediatr Nephrol
; 38(3): 757-762, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861872
2.
Long-term outcome of combination therapy with corticosteroids, mizoribine and RAS inhibitors as initial therapy for severe childhood IgA vasculitis with nephritis.
Pediatr Nephrol
; 38(12): 4023-4031, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37380934
3.
Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.
Clin Exp Nephrol
; 27(3): 218-226, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371577
4.
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Clin Exp Nephrol
; 27(9): 737-746, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37254000
5.
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
J Hum Genet
; 67(7): 427-440, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35140360
6.
Detecting pathogenic deep intronic variants in Gitelman syndrome.
Am J Med Genet A
; 188(9): 2576-2583, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35785516
7.
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Nephrol Dial Transplant
; 37(2): 262-270, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34586410
8.
Use of renin-angiotensin system inhibitors as initial therapy in children with Henoch-Schönlein purpura nephritis of moderate severity.
Pediatr Nephrol
; 37(8): 1845-1853, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35015121
9.
Efficacy of combination therapy for childhood complicated focal IgA nephropathy.
Clin Exp Nephrol
; 26(6): 561-570, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138499
10.
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
Clin Exp Nephrol
; 26(2): 140-153, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34536170
11.
Multivariate analysis of the impact of weather and air pollution on emergency department visits for unprovoked seizure among children: A retrospective clinical observational study.
Epilepsy Behav
; 125: 108434, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837841
12.
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
Clin Exp Nephrol
; 25(11): 1224-1230, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34128148
13.
Utility of glomerular Gd-IgA1 staining for indistinguishable cases of IgA nephropathy or Alport syndrome.
Clin Exp Nephrol
; 25(7): 779-787, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743099
14.
Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.
Kidney Int
; 98(6): 1605-1614, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32712167
15.
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.
Clin Exp Nephrol
; 24(7): 606-612, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32201916
16.
Correction to: Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.
Clin Exp Nephrol
; 25(5): 564, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33721133
17.
Management of children with obesity at local hospital and impact of COVID-19 pandemic.
Front Pediatr
; 11: 1228681, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37635787
18.
Corrigendum to "Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease"Kidney International Reports, Volume 7, Issue 4, April 2022, Pages 857-866.
Kidney Int Rep
; 8(5): 1127-1129, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37180508
19.
The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome.
Front Med (Lausanne)
; 9: 841391, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35211492
20.
Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.
Kidney Int Rep
; 7(1): 108-116, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005319