Detalhe da pesquisa
1.
WT1 exon 10 missense variant in a pediatric patient with focal segmental glomerulosclerosis with embryonal hyperplasia.
Pediatr Nephrol
; 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38265486
2.
Clinical characteristics and outcomes of immune-complex membranoproliferative glomerulonephritis and C3 glomerulopathy in Japanese children.
Pediatr Nephrol
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662234
3.
A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants.
Kidney Int
; 103(5): 962-972, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36898413
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.
BCS1L mutations produce Fanconi syndrome with developmental disability.
J Hum Genet
; 67(3): 143-148, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34650211
7.
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
8.
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
9.
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
10.
Unilateral nephrectomy for young infants with congenital nephrotic syndrome of the Finnish type.
Clin Exp Nephrol
; 26(2): 162-169, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581898
11.
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
12.
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
13.
Epidemiological impact of universal varicella vaccination on consecutive emergency department visits for varicella and its economic impact among children in Kobe City, Japan.
J Infect Chemother
; 28(1): 35-40, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620534
14.
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Am J Med Genet A
; 185(7): 2175-2179, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33884742
15.
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
16.
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
17.
Prevalence of Wilson disease based on genome databases in Japan.
Pediatr Int
; 63(8): 918-922, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33260258
18.
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
19.
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Kidney Int
; 98(5): 1308-1322, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554042
20.
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
J Hum Genet
; 65(6): 541-549, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203253