Detalhe da pesquisa
1.
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan.
J Clin Immunol
; 42(8): 1696-1707, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35902420
2.
Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1.
J Allergy Clin Immunol
; 143(1): 266-275, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29778502
3.
Development of clinical paroxysmal nocturnal haemoglobinuria in children with aplastic anaemia.
Br J Haematol
; 178(6): 954-958, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28643364
4.
Efficacy of neutrophil non-muscle myosin heavy chain-IIA immunofluorescence analysis in determining the pathogenicity of MYH9 variants.
Ann Hematol
; 96(6): 1065-1066, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28293712
5.
Recurrent Cellulitis Caused by Helicobacter cinaedi in a Patient with X-linked Agammaglobulinaemia.
Acta Derm Venereol
; 97(2): 277-278, 2017 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27377098
6.
Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.
Acta Derm Venereol
; 97(3): 399-401, 2017 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27786350
7.
Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation.
Acta Derm Venereol
; 97(4): 532-533, 2017 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27868147
8.
Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.
J Allergy Clin Immunol
; 138(1): 303-305.e3, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26997321
9.
Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome.
J Allergy Clin Immunol
; 138(5): 1471-1473.e4, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27444175
10.
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
J Allergy Clin Immunol
; 137(2): 619-622.e1, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26242301
11.
Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas.
NPJ Genom Med
; 6(1): 49, 2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34131151
12.
Ureteral dilatation detected in magnetic resonance imaging predicts vesicoureteral reflux in children with urinary tract infection.
PLoS One
; 13(12): e0209595, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30576373
13.
Integration Mapping of piggyBac-Mediated CD19 Chimeric Antigen Receptor T Cells Analyzed by Novel Tagmentation-Assisted PCR.
EBioMedicine
; 34: 18-26, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30082227
14.
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
J Invest Dermatol
; 137(11): 2344-2353, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28774589
15.
MEF2D-BCL9 Fusion Gene Is Associated With High-Risk Acute B-Cell Precursor Lymphoblastic Leukemia in Adolescents.
J Clin Oncol
; 34(28): 3451-9, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27507882
16.
An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency.
J Dermatol Sci
; 90(2): 216-218, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29454537
17.
A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation.
J Dermatol Sci
; 88(1): 144-146, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28587736