Detalhe da pesquisa
1.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Proc Natl Acad Sci U S A
; 120(9): e2102569120, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36802443
2.
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Blood
; 141(22): 2713-2726, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952639
3.
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
J Allergy Clin Immunol
; 153(1): 275-286.e18, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935260
4.
Pediatric refractory chronic immune thrombocytopenia: Identification, patients' characteristics, and outcome.
Am J Hematol
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38651646
5.
Monoclonal antibody-mediated neutralization of SARS-CoV-2 in an IRF9-deficient child.
Proc Natl Acad Sci U S A
; 118(45)2021 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702736
6.
Ovarian tissue cryopreservation for fertility preservation before hematopoietic stem cell transplantation in patients with sickle cell disease: safety, ovarian function follow-up, and results of ovarian tissue transplantation.
J Assist Reprod Genet
; 41(4): 1027-1034, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38358434
7.
Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients.
J Allergy Clin Immunol
; 151(6): 1634-1645, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36638922
8.
Letermovir for CMV Prophylaxis in Very High-Risk Pediatric Hematopoietic Stem Cell Transplantation Recipients for Inborn Errors of Immunity.
J Clin Immunol
; 44(1): 6, 2023 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117473
9.
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
J Clin Immunol
; 43(6): 1436-1447, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171742
10.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
J Clin Immunol
; 41(5): 958-966, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534079
11.
Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction.
Biol Blood Marrow Transplant
; 26(4): 704-711, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843562
12.
Haploidentical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immunodeficiencies and Inherited Disorders in Children.
Biol Blood Marrow Transplant
; 25(7): 1363-1373, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30876929
13.
Early Bayesian Dose Adjustment of Vancomycin Continuous Infusion in Children: a Randomized Controlled Trial.
Antimicrob Agents Chemother
; 63(12)2019 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591117
14.
Pulmonary hypertension after bone marrow transplantation in children.
Eur Respir J
; 54(5)2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31649064
15.
Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy.
Clin Gastroenterol Hepatol
; 21(5): 1368-1371.e2, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35944833
16.
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
J Inherit Metab Dis
; 40(6): 853-860, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687938
17.
HLA-matched related donor hematopoietic stem cell transplantation is a suitable treatment in adolescents and adults with sickle cell disease: Comparison of myeloablative and non-myeloablative approaches.
Am J Hematol
; 97(9): E359-E362, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35802796
18.
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
J Allergy Clin Immunol
; 147(2): 734-737, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531373
19.
Cranial polyneuropathy as the first manifestation of a severe COVID-19 in a child.
Pediatr Blood Cancer
; 68(3): e28707, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32970376
20.
Safety and efficacy of brentuximab vedotin as a treatment for lymphoproliferative disorders in primary immunodeficiencies.
Haematologica
; 105(9): e461-464, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054064