Detalhe da pesquisa
1.
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis.
Hum Mol Genet
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38743908
2.
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Am J Hum Genet
; 110(7): 1086-1097, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339631
3.
NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.
Mol Cell
; 68(4): 645-658.e5, 2017 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29149593
4.
Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.
Cerebellum
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421477
5.
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.
Cerebellum
; 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38324175
6.
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
7.
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.
J Hum Genet
; 68(6): 399-408, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36804482
8.
Longitudinal antigenic and seroepidemiological analyses of parechovirus A1 in Yamagata, Japan.
J Med Virol
; 95(4): e28696, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951317
9.
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
10.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815299
11.
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
12.
Cardiac features of Noonan syndrome in Japanese patients.
Cardiol Young
; 33(4): 564-569, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35475426
13.
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
Hum Mutat
; 43(1): 3-15, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618388
14.
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
Am J Med Genet C Semin Med Genet
; 190(4): 425-439, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36394128
15.
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Am J Hum Genet
; 104(6): 1233-1240, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130285
16.
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey.
J Hum Genet
; 67(10): 557-563, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322199
17.
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct.
J Hum Genet
; 67(7): 393-397, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35087201
18.
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations.
J Hum Genet
; 67(12): 721-728, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171295
19.
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
20.
Seroprevalence of coxsackievirus A21 neutralizing antibodies in Yamagata, Japan, between 1976 and 2019; coxsackievirus A21 has rarely affected young children.
J Med Virol
; 94(6): 2877-2881, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34811773