Detalles de la búsqueda
1.
Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements.
Am J Med Genet A
; 191(1): 112-119, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36282026
2.
Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.
Am J Med Genet A
; 191(2): 400-407, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36345653
3.
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern.
Hum Mutat
; 41(12): 2119-2127, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32906213
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32535809
5.
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing.
J Hum Genet
; 65(9): 735-741, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32355308
6.
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.
Am J Med Genet A
; 182(3): 521-526, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31821719
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31004103
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30152144
9.
Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation.
Congenit Anom (Kyoto)
; 61(2): 63-67, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33244819
10.
Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.
Hum Genome Var
; 8(1): 14, 2021 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33795668
11.
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.
Hum Genome Var
; 8(1): 16, 2021 May 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33958584
12.
Novel LAMA2 variants identified in a patient with white matter abnormalities.
Hum Genome Var
; 7: 16, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32509318
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30684281
14.
Molecular Profiles of Breast Cancer in a Single Institution.
Anticancer Res
; 40(8): 4567-4570, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-32727787
15.
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.
Hum Genome Var
; 7(1): 42, 2020 Nov 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-33298904
16.
Advantages of ddPCR in detection of PLP1 duplications.
Intractable Rare Dis Res
; 8(3): 198-202, 2019 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-31523598
17.
Three Japanese patients with 3p13 microdeletions involving FOXP1.
Brain Dev
; 41(3): 257-262, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30424912
18.
Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.
Congenit Anom (Kyoto)
; 59(5): 169-173, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-30378700
19.
Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.
Brain Dev
; 41(5): 452-455, 2019 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-30635136
20.
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.
Brain Dev
; 41(9): 776-782, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31171384