Detalhe da pesquisa
1.
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
Am J Hum Genet;
111(5): 896-912, 2024 May 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38653249
2.
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
em Inglês
| MEDLINE
| ID: mdl-38060463
3.
Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.
Hum Mol Genet;
32(14): 2318-2325, 2023 07 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37070740
4.
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.
J Med Genet;
61(3): 239-243, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37833059
5.
Predictive factors and treatment outcomes associated with difficult-to-treat rheumatoid arthritis conditions: the ANSWER cohort study.
Rheumatology (Oxford);
2024 May 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38724245
6.
Comparison of retention of biologics in Japanese patients with elderly-onset rheumatoid arthritis-the ANSWER cohort study.
Rheumatology (Oxford);
2024 Feb 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38317442
7.
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Hum Reprod;
39(5): 1131-1140, 2024 May 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38511217
8.
Examination of nailfold videocapillaroscopy findings in ANCA-associated vasculitis.
Rheumatology (Oxford);
62(2): 747-757, 2023 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35816001
9.
Comparative effectiveness of biological disease-modifying antirheumatic drugs and Janus kinase inhibitor monotherapy in rheumatoid arthritis.
Rheumatology (Oxford);
2023 Nov 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37988163
10.
Real-world comparative study of the efficacy of Janus kinase inhibitors in patients with rheumatoid arthritis: the ANSWER cohort study.
Rheumatology (Oxford);
2023 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37924201
11.
Rare sequence variants associated with the risk of non-syndromic biliary atresia.
Hepatol Res;
53(11): 1134-1141, 2023 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37491771
12.
Clinical features of fetal hydrothorax associated with mucopolysaccharidosis-VII.
J Obstet Gynaecol Res;
49(10): 2538-2543, 2023 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37469021
13.
Serum Complement C4 Levels Are a Useful Biomarker for Predicting End-Stage Renal Disease in Microscopic Polyangiitis.
Int J Mol Sci;
24(19)2023 Sep 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37833884
14.
Prognostic Factors Affecting Death in Patients with Rheumatoid Arthritis Complicated by Pneumocystis jirovecii Pneumonia and One-Year Clinical Course: The ANSWER Cohort Study.
Int J Mol Sci;
24(8)2023 Apr 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37108561
15.
Quantitative assessment of copy number alterations by liquid biopsy for neuroblastoma.
Genes Chromosomes Cancer;
61(11): 662-669, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35655408
16.
Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome.
Reprod Med Biol;
22(1): e12504, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36845002
17.
Prognostic factors affecting respiratory-related death in patients with rheumatoid arthritis complicated by interstitial lung disease: An ANSWER cohort study.
Mod Rheumatol;
33(5): 928-935, 2023 Aug 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36112486
18.
Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report.
Clin Immunol;
238: 109015, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35429653
19.
Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing.
J Hum Genet;
67(12): 711-720, 2022 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36167771
20.
Direct platelet adhesion potentiates group 2 innate lymphoid cell functions.
Allergy;
77(3): 843-855, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34402091