Detalhe da pesquisa
1.
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
Nat Immunol
; 22(7): 893-903, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155405
2.
StayGold variants for molecular fusion and membrane-targeting applications.
Nat Methods
; 21(4): 648-656, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38036853
3.
The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils.
Nat Immunol
; 13(4): 369-78, 2012 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22366891
4.
Transient erythroblastopenia due to a GATA1 variant in an infant female.
Pediatr Blood Cancer
; 71(3): e30834, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149846
5.
Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report.
BMC Pediatr
; 24(1): 304, 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38704558
6.
Stochastic chromatin packing of 3D mitotic chromosomes revealed by coherent X-rays.
Proc Natl Acad Sci U S A
; 118(46)2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750262
7.
Rare TCF3 variants associated with pediatric B cell acute lymphoblastic leukemia.
Pediatr Hematol Oncol
; 41(1): 81-87, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37129918
8.
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.
J Clin Immunol
; 43(8): 2136-2145, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794136
9.
Successful TCRαß/CD19-Depleted Hematopoietic Cell Transplantation for a Patient With Artemis Deficiency.
J Pediatr Hematol Oncol
; 45(2): e285-e289, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757045
10.
Transient immune deficiency accompanied with homozygous CBL rare variant.
Pediatr Int
; 65(1): e15439, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495474
11.
First phase 1 clinical study of olaparib in pediatric patients with refractory solid tumors.
Cancer
; 128(15): 2949-2957, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593736
12.
Prominence of NUDT15 genetic variation associated with 6-mercaptopurine tolerance in a genome-wide association study of Japanese children with acute lymphoblastic leukaemia.
Br J Haematol
; 199(2): 260-269, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35961941
13.
PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome.
J Hum Genet
; 67(1): 51-54, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341476
14.
Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.
Cancer Sci
; 2021 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33932062
15.
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Clin Immunol
; 229: 108776, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34118401
16.
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
J Clin Immunol
; 41(4): 780-790, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33501615
17.
Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases.
J Clin Immunol
; 41(5): 944-957, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527309
18.
Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling.
J Cell Sci
; 132(8)2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30877223
19.
A Pilot Study Analyzing the Clinical Utility of Comprehensive Genomic Profiling Using Plasma Cell-Free DNA for Solid Tumor Patients in Japan (PROFILE Study).
Ann Surg Oncol
; 28(13): 8497-8505, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33778906
20.
Copy number alteration analysis for neuroblastoma using droplet digital polymerase chain reaction.
Pediatr Int
; 63(10): 1192-1197, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33462952