Detalhe da pesquisa
1.
Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis.
PLoS Genet
; 19(12): e1010625, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38060463
2.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Am J Hum Genet
; 106(6): 793-804, 2020 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32413282
3.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33217308
4.
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
Acta Neuropathol
; 145(2): 235-255, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36512060
5.
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.
Neuropathol Appl Neurobiol
; 48(3): e12787, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34927285
6.
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Am J Med Genet A
; 185(5): 1468-1480, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33624935
7.
RILPL1-related OPDM is absent in a Japanese cohort.
Am J Hum Genet
; 109(11): 2088-2089, 2022 11 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36332612
8.
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
Ann Neurol
; 86(2): 193-202, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31155743
9.
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Genet Med
; 21(7): 1629-1638, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30467404
10.
A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.
Am J Hum Genet
; 97(2): 337-42, 2015 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26211971
11.
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Hum Mutat
; 38(3): 317-323, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28054739
12.
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
J Hum Genet
; 62(4): 503-506, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28123176
13.
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.
J Hum Genet
; 62(3): 437-441, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27829680
14.
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.
J Hum Genet
; 62(3): 447-451, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27881841
15.
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
J Med Genet
; 53(8): 568-74, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27055475
16.
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Am J Hum Genet
; 92(6): 927-34, 2013 Jun 06.
Artigo
Inglês
| MEDLINE | ID: mdl-23664117
17.
A recurrent homozygous ACTN2 variant associated with core myopathy.
Acta Neuropathol
; 142(4): 785-788, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34471957
18.
A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN.
J Neurol Neurosurg Psychiatry
; 87(8): 851-8, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-26746183
19.
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Am J Med Genet A
; 170A(2): 460-465, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26463668
20.
Ectopic expression of Ptf1a induces spinal defects, urogenital defects, and anorectal malformations in Danforth's short tail mice.
PLoS Genet
; 9(2): e1003204, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23436999