Detalhe da pesquisa
1.
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
J Clin Immunol
; 43(2): 466-478, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36336768
2.
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Am J Med Genet A
; 191(1): 37-51, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36189931
3.
Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease.
Prenat Diagn
; 43(3): 304-313, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36797813
4.
Early Detection of Cardiac Amyloidosis in Transthyretin Mutation Carriers.
Int Heart J
; 63(1): 168-175, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35095067
5.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32803813
6.
Randomized controlled phase III trial of adjuvant chemoimmunotherapy with activated cytotoxic T cells and dendritic cells from regional lymph nodes of patients with lung cancer.
Cancer Immunol Immunother
; 67(8): 1231-1238, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29855695
7.
Bacillus Calmette-Guérin-induced lupus vulgaris in a patient with Mendelian susceptibility to mycobacterial disease caused by a novel STAT1 variation.
Br J Dermatol
; 188(1): 142-143, 2023 01 23.
Artigo
Inglês
| MEDLINE | ID: mdl-36689501
8.
A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa.
Pediatr Int
; 64(1): e14839, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34837663
9.
Randomized controlled phase III trial of adjuvant chemo-immunotherapy with activated killer T cells and dendritic cells in patients with resected primary lung cancer.
Cancer Immunol Immunother
; 64(1): 51-9, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25262164
10.
Quantitative analysis of human parvovirus B19 DNA in maternal and fetal serum, and amniotic fluid during an early stage of pregnancy.
J Med Virol
; 87(4): 683-5, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25611946
11.
Quantitation of human parvovirus B19 DNA in erythema infectiosum and aplastic crisis.
J Med Virol
; 86(12): 2102-6, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24962467
12.
Pure duplication of 19p13.3.
Am J Med Genet A
; 161A(9): 2300-4, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23897601
13.
Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.
Am J Med Genet A
; 158A(9): 2347-52, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22887762
14.
Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children's hospital.
Eur J Pediatr
; 171(2): 301-5, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21766165
15.
A novel ZC4H2 variant in a female with severe respiratory complications.
Brain Dev
; 44(8): 571-577, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35504761
16.
Twin pregnancy with untyped Ehlers-Danlos syndrome requiring prompt genetic testing: A case report.
Case Rep Womens Health
; 33: e00384, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-35079579
17.
Successful resection of schwannoma from an intercostal nerve causing bloody pleural effusion: report of a case.
Surg Today
; 41(7): 989-91, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21748618
18.
A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms.
Brain Dev
; 43(4): 563-565, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33358638
19.
[A case of Charcot-Marie-Tooth disease type 2Z caused by MORC2 S87L mutation mimicking spinal muscular atrophy].
Rinsho Shinkeigaku
; 61(4): 262-264, 2021 Apr 21.
Artigo
Japonês
| MEDLINE | ID: mdl-33762496
20.
Interval between the First Cancer and the Genetic Diagnosis in Lynch Syndrome Probands.
Intern Med
; 60(17): 2719-2724, 2021 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33746161