Detalhe da pesquisa
1.
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
2.
Clinical spectrum of male patients with OFD1 mutations.
J Hum Genet
; 64(1): 3-9, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401917
3.
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
J Am Soc Nephrol
; 29(8): 2244-2254, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959198
4.
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.
J Hum Genet
; 63(5): 589-595, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29459630
5.
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.
Clin Exp Nephrol
; 22(4): 881-888, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29372472
6.
Cryptic exon activation in SLC12A3 in Gitelman syndrome.
J Hum Genet
; 62(2): 335-337, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27784896
7.
Female X-linked Alport syndrome with somatic mosaicism.
Clin Exp Nephrol
; 21(5): 877-883, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27796712
8.
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.
Genet Med
; 18(2): 180-8, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25880437
9.
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
Clin Exp Nephrol
; 20(5): 699-702, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581810
10.
Different phenotypes of HNF1ß deletion mutants in familial multicystic dysplastic kidneys.
Clin Nephrol
; 79(6): 484-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23725647
11.
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.
Nat Commun
; 11(1): 2777, 2020 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488001
12.
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.
Hum Genet
; 126(4): 533-8, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19513753
13.
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.
Pediatr Res
; 66(5): 590-3, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19668106
14.
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.
Mol Genet Genomic Med
; 7(9): e883, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31364286
15.
Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.
Kidney Int Rep
; 4(1): 119-125, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30596175
16.
Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.
Nephrol Dial Transplant
; 23(8): 2525-30, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18332068
17.
Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits.
Nephron
; 138(2): 166-171, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29131116
18.
A birth of bipartite exon by intragenic deletion.
Mol Genet Genomic Med
; 5(3): 287-294, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546999
19.
Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.
Kidney Int Rep
; 2(5): 850-855, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29270492
20.
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Clin J Am Soc Nephrol
; 11(8): 1441-1449, 2016 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27281700