Detalhe da pesquisa
1.
Myelodysplasia after clonal hematopoiesis with APOBEC3-mediated CYBB inactivation in retroviral gene therapy for X-CGD.
Mol Ther
; 31(12): 3424-3440, 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705244
2.
Recombinant human thrombomodulin for pneumonia-induced severe ARDS complicated by DIC in children: a preliminary study.
J Anesth
; 35(5): 638-645, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34259911
3.
A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.
J Hum Genet
; 63(3): 387-390, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29335451
4.
Influence of food texture on energy metabolism and adiposity in male rats.
Exp Physiol
; 103(10): 1347-1356, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30105882
5.
Necrotizing Ulcer After BCG Vaccination in a Girl With Leukocyte-adhesion Deficiency Type 1.
J Pediatr Hematol Oncol
; 40(1): 63-66, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28538512
6.
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.
J Hum Genet
; 62(4): 473-480, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27928163
7.
Leopard Skin-Like Colonic Mucosa: A Novel Endoscopic Finding of Chronic Granulomatous Disease-Associated Colitis.
J Pediatr Gastroenterol Nutr
; 62(1): 56-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26164846
8.
Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl.
Eur J Pediatr
; 175(1): 137-41, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26283294
9.
Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
Nephrology (Carlton)
; 21(9): 765-73, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26560070
10.
Relapsed childhood acute myeloid leukemia patient with inversion of chromosome 16 harboring a low FLT3 internal tandem duplication allelic burden and KIT mutations.
Pediatr Int
; 58(9): 905-8, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27460485
11.
The adaptor protein p40phox as a positive regulator of the superoxide-producing phagocyte oxidase.
EMBO J
; 35(3): 369-70, 2016 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27487400
12.
Familial C3 glomerulonephritis associated with mutations in the gene for complement factor B.
Nephrol Dial Transplant
; 30(5): 862-4, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25758434
13.
Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
Blood
; 119(23): 5458-66, 2012 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22517901
14.
Proposed strategy for the use of high-dose chemotherapy with stem cell rescue and intrathecal topotecan without whole-brain irradiation for infantile classic medulloblastoma.
Pediatr Blood Cancer
; 61(12): 2316-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25174961
15.
Nephrotic syndrome complicated by idiopathic central diabetes insipidus.
Pediatr Nephrol
; 29(5): 927-30, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24408226
16.
Cytomegalovirus retinitis as an adverse immunological effect of pulses of vincristine and dexamethasone in maintenance therapy for childhood acute lymphoblastic leukemia.
Pediatr Blood Cancer
; 60(2): 329-31, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22976937
17.
Efficacy of temozolomide in a central nervous system relapse of neuroblastoma with O 6 -methylguanine methyltransferase (MGMT) promoter methylation.
J Pediatr Hematol Oncol
; 35(1): e38-41, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23042021
18.
[Refractory acute myeloid leukemia developed malignancy-associated hemophagocytic lymphohistiocytosis during treatment of invasive fungal infection].
Rinsho Ketsueki
; 54(4): 383-7, 2013 Apr.
Artigo
em Japonês
| MEDLINE | ID: mdl-23666221
19.
Recent topics and advanced therapies in chronic granulomatous disease.
Hum Cell
; 36(2): 515-527, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36534309
20.
Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
J Clin Immunol
; 32(1): 39-49, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21993693