Detalhe da pesquisa
1.
Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome.
J Obstet Gynaecol Res
; 49(6): 1624-1627, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36907825
2.
Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.
J Pediatr
; 244: 38-48.e1, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35131284
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Molecular mechanisms determining severity in patients with Pierson syndrome.
J Hum Genet
; 65(4): 355-362, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31959872
9.
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2.
Pediatr Nephrol
; 35(12): 2319-2326, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32683654
10.
Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
Pediatr Int
; 62(4): 428-437, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31830341
11.
Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.
J Hum Genet
; 64(7): 673-679, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015583
12.
Clinical spectrum of male patients with OFD1 mutations.
J Hum Genet
; 64(1): 3-9, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401917
13.
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.
Am J Med Genet A
; 179(7): 1315-1318, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31034146
14.
Novel mutation in KIF23 causing congenital dyserythropoietic anemia type III in patients who underwent allogeneic hematopoietic stem cell transplantation.
Pediatr Blood Cancer
; 71(6): e30736, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38523246
15.
Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution.
Pediatr Nephrol
; 34(8): 1457-1464, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30937553
16.
Clinical characteristics of HNF1B-related disorders in a Japanese population.
Clin Exp Nephrol
; 23(9): 1119-1129, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131422
17.
Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation.
Tohoku J Exp Med
; 249(1): 29-32, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534065
18.
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
19.
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
20.
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.
J Hum Genet
; 63(8): 887-892, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29849040