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.
STAT6 gain-of-function variant exacerbates multiple allergic symptoms.
J Allergy Clin Immunol
; 151(5): 1402-1409.e6, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36538978
3.
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing.
J Hum Genet
; 68(6): 431-435, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36765129
4.
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
Inglês
| MEDLINE | ID: mdl-35087201
5.
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.
J Hum Genet
; 67(9): 505-513, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35318459
6.
Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis.
Gastroenterology
; 158(6): 1626-1641.e8, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31930989
7.
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
J Hum Genet
; 66(10): 1029-1034, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-33723370
8.
Guide for diagnosis and treatment of hyperphenylalaninemia.
Pediatr Int
; 63(1): 8-12, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33423362
9.
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Hum Mol Genet
; 27(8): 1421-1433, 2018 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29432562
10.
X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case report.
Clin Immunol
; 217: 108495, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32540394
11.
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Ann Neurol
; 85(6): 927-933, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30945334
12.
Long-term efficacy and safety of two doses of Norditropin® (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients.
Endocr J
; 67(8): 803-818, 2020 Aug 28.
Artigo
Inglês
| MEDLINE | ID: mdl-32269181
13.
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.
J Am Soc Nephrol
; 30(5): 877-889, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30962325
14.
Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.
Hum Mol Genet
; 26(23): 4715-4727, 2017 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28973166
15.
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Hum Genet
; 138(1): 21-35, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-30368668
16.
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.
J Hum Genet
; 64(10): 1005-1014, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31311986
17.
Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion.
Haematologica
; 104(1): 128-137, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30171027
18.
KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes.
Pediatr Diabetes
; 20(6): 712-719, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31124255
19.
Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivity.
Endocr J
; 66(4): 387-393, 2019 Apr 25.
Artigo
Inglês
| MEDLINE | ID: mdl-30787207
20.
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
Am J Hum Genet
; 97(6): 848-54, 2015 Dec 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26581901