Detalhe da pesquisa
1.
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
J Med Genet
; 60(10): 1006-1015, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055166
2.
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease.
J Inherit Metab Dis
; 45(6): 1143-1150, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053827
3.
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
J Inherit Metab Dis
; 43(4): 819-826, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31967322
4.
Heterozygosity mapping for human dominant trait variants.
Hum Mutat
; 40(7): 996-1004, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018026
5.
Barth Syndrome: Different Approaches to Diagnosis.
J Pediatr
; 193: 256-260, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29249525
6.
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.
Hum Mutat
; 38(12): 1796-1800, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28722338
7.
NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
Brain
; 143(7): e54, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32462209
8.
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
Mol Genet Metab Rep
; 35: 100966, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36967720
9.
Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report.
Brain Dev
; 44(1): 56-62, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34452803
10.
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Mitochondrion
; 63: 1-8, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34933128
11.
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Arch Dis Child Fetal Neonatal Ed
; 107(3): 329-334, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625524
12.
Clinical heterogeneity in patients with m.4412Gâ¯>â¯A MT-TM mutation and different heteroplasmy levels.
Mitochondrion
; 59: 214-215, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089906
13.
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Int J Cardiol
; 341: 48-55, 2021 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34298071
14.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Med
; 2(1): 49-73, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33575671
15.
Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy.
J Clin Pathol
; 2020 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817174
16.
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome.
Mol Genet Genomic Med
; 8(10): e1427, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32749073
17.
Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy.
ESC Heart Fail
; 6(2): 406-415, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30690923
18.
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.
Int J Cardiol
; 279: 115-121, 2019 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30642647