Detalhe da pesquisa
1.
Rituximab in combination with cyclosporine and steroid pulse therapy for childhood-onset multidrug-resistant nephrotic syndrome: a multicenter single-arm clinical trial (JSKDC11 trial).
Clin Exp Nephrol
; 28(4): 337-348, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38010466
2.
Mycophenolate Mofetil after Rituximab for Childhood-Onset Complicated Frequently-Relapsing or Steroid-Dependent Nephrotic Syndrome.
J Am Soc Nephrol
; 33(2): 401-419, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34880074
3.
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
Inglês
| MEDLINE | ID: mdl-34586410
4.
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
J Pediatr
; 214: 151-157.e6, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31477378
5.
Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.
J Am Soc Nephrol
; 29(8): 2189-2199, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30012571
6.
Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
Hum Mol Genet
; 25(7): 1406-19, 2016 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26908620
7.
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.
J Hum Genet
; 63(5): 647-656, 2018 May.
Artigo
Inglês
| MEDLINE | ID: mdl-29500469
8.
Successful Treatment of Transplantation-associated Atypical Hemolytic Uremic Syndrome With Eculizumab.
J Pediatr Hematol Oncol
; 40(1): e41-e44, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28538511
9.
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
Genet Med
; 16(12): 903-12, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24810686
10.
Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia.
Clin Epigenetics
; 14(1): 64, 2022 05 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35581658
11.
Early Elevation of Complement Factor Ba Is a Predictive Biomarker for Transplant-Associated Thrombotic Microangiopathy.
Front Immunol
; 12: 695037, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34326846
12.
Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013: general therapy.
Clin Exp Nephrol
; 19(1): 34-53, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25653047
13.
Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013: medical therapy.
Clin Exp Nephrol
; 19(1): 6-33, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25653046
14.
Association between Crohn's disease and AarF domain-containing kinase 4 glomerulopathy.
Clin J Gastroenterol
; 12(3): 263-268, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-30706428
15.
Atypical Hemolytic Uremic Syndrome With the p.Ile1157Thr C3 Mutation Successfully Treated With Plasma Exchange and Eculizumab: A Case Report.
Crit Care Explor
; 1(4): e0008, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-32166254
16.
Postoperative Atypical Hemolytic Uremic Syndrome Treated Successfully with Eculizumab.
Intern Med
; 55(9): 1171-5, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27150874
17.
Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome.
Pediatr Nephrol
; 24(9): 1773-4, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19169714
18.
Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY.
Mol Genet Genomic Med
; 2(5): 451-3, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25333070
19.
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
Eur J Hum Genet
; 21(11): 1316-9, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23486540
20.
Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.
Pediatr Nephrol
; 23(11): 2085-90, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18584212