Detalhe da pesquisa
1.
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.
Am J Med Genet A
; 191(6): 1632-1638, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36916329
2.
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern.
Hum Mutat
; 41(12): 2119-2127, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906213
3.
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.
Hum Genet
; 139(12): 1555-1563, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32535809
4.
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing.
J Hum Genet
; 65(9): 735-741, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32355308
5.
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.
Am J Med Genet A
; 182(3): 521-526, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31821719
6.
Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.
J Hum Genet
; 64(7): 665-671, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004103
7.
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.
Am J Med Genet A
; 176(12): 2803-2807, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152144
8.
Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design.
Methods Mol Biol
; 2794: 293-304, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630238
9.
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene.
Hum Genome Var
; 8(1): 10, 2021 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33594047
10.
Novel LAMA2 variants identified in a patient with white matter abnormalities.
Hum Genome Var
; 7: 16, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32509318
11.
Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction.
Congenit Anom (Kyoto)
; 60(1): 10-14, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30684281
12.
Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B.
Congenit Anom (Kyoto)
; 60(6): 189-193, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618029
13.
Advantages of ddPCR in detection of PLP1 duplications.
Intractable Rare Dis Res
; 8(3): 198-202, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31523598
14.
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.
Brain Dev
; 41(9): 776-782, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31171384
15.
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder.
Intractable Rare Dis Res
; 7(4): 245-250, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30560016
16.
De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome.
Congenit Anom (Kyoto)
; 59(6): 193-194, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30536491