Detalhe da pesquisa
1.
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Genet Med
; 26(8): 101165, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38762772
2.
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
J Hum Genet
; 69(5): 177-183, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351237
3.
Long-term clinical observation of patients with heterozygous KIF1A variants.
Am J Med Genet A
; : e63656, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760879
4.
Progress report of the Tohoku Medical Megabank Community-Based Cohort Study: Study profile of the repeated center-based survey during second period in Miyagi Prefecture.
J Epidemiol
; 2024 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38403692
5.
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
J Hum Genet
; 68(1): 51-54, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36167772
6.
Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).
J Bone Miner Metab
; 41(2): 193-202, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520195
7.
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.
J Med Genet
; 2022 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35534205
8.
Association between maternal psychological distress and children's neurodevelopment in offspring aged 4 years in Japan: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study.
J Paediatr Child Health
; 59(3): 548-554, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751990
9.
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
PLoS Genet
; 16(2): e1008628, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32101538
10.
Design and Progress of Child Health Assessments at Community Support Centers in the Birth and Three-Generation Cohort Study of the Tohoku Medical Megabank Project.
Tohoku J Exp Med
; 259(2): 93-105, 2023 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450480
11.
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.
J Hum Genet
; 67(1): 9-17, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234266
12.
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Am J Med Genet A
; 188(4): 1293-1298, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34971077
13.
ß-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency.
J Inherit Metab Dis
; 45(2): 334-339, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34611916
14.
Combined Associations of Liver Enzymes and Obesity With Diabetes Mellitus Prevalence: The Tohoku Medical Megabank Community-based Cohort Study.
J Epidemiol
; 32(5): 221-227, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33390464
15.
Maternal Baseline Characteristics and Perinatal Outcomes: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study.
J Epidemiol
; 32(2): 69-79, 2022 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33041318
16.
Association of maternal psychological distress and the use of childcare facilities with children's behavioral problems: the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study.
BMC Psychiatry
; 22(1): 693, 2022 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36357866
17.
Assessment of synthetic red cell therapy for extremely preterm ovine fetuses maintained on an artificial placenta life-support platform.
Artif Organs
; 46(4): 653-665, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34932228
18.
Effectiveness of mRNA COVID-19 Vaccines in Japan during the Nationwide Pandemic of the Delta Variant.
Tohoku J Exp Med
; 257(1): 1-6, 2022 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35354690
19.
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Tohoku J Exp Med
; 256(4): 321-326, 2022 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35321980
20.
COVID-19-Related Symptoms during the SARS-CoV-2 Omicron (B.1.1.529) Variant Surge in Japan.
Tohoku J Exp Med
; 258(2): 103-110, 2022 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36002251