Detalhe da pesquisa
1.
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
Cell Tissue Res
; 396(2): 255-267, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38502237
2.
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients.
J Clin Immunol
; 43(8): 2091-2103, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37755605
3.
Ischaemic cerebral small vessel disease caused by adenosine deaminase 2 deficiency syndrome.
Eur J Neurol
; 30(4): 1148-1151, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692946
4.
Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration and Neuronal Ceroidolipofuscinosis Carrying a GRN Mutation.
Int J Mol Sci
; 23(22)2022 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430231
5.
Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.
Clin Immunol
; 195: 59-66, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30053428
6.
When a Nontuberculous Mycobacterial Infection Reveals an Error of Immunity: A Single Center's Experience.
Pediatr Infect Dis J
; 41(5): 427-429, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35086117
7.
DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes.
J Exp Med
; 219(4)2022 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262626
8.
Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene.
Stem Cell Res
; 54: 102430, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34182252
9.
E-Cadherin Expression and Blunted Interferon Response in Blastic Plasmacytoid Dendritic Cell Neoplasm.
Am J Surg Pathol
; 45(10): 1428-1438, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34081040
10.
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.
Front Immunol
; 12: 673487, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33936120
11.
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene.
Stem Cell Res
; 49: 102007, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33010677
12.
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.
Stem Cell Res
; 35: 101393, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30711802
13.
Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Front Immunol
; 8: 1244, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29042861
14.
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Front Immunol
; 8: 798, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28769923