Detalhe da pesquisa
1.
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.
Genes Immun
; 23(1): 51-56, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34952932
2.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Hum Genet
; 141(1): 147-173, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889978
3.
JNK signaling provides a novel therapeutic target for Rett syndrome.
BMC Biol
; 19(1): 256, 2021 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34911542
4.
Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder.
Brain
; 143(3): 811-832, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32125365
5.
C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age.
Int J Mol Sci
; 22(13)2021 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34209673
6.
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.
Proc Natl Acad Sci U S A
; 114(4): E514-E523, 2017 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28069966
7.
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.
Exp Cell Res
; 368(2): 225-235, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29730163
8.
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
J Hum Genet
; 61(2): 95-101, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26490184
9.
Epilepsy in Rett syndrome--lessons from the Rett networked database.
Epilepsia
; 56(4): 569-76, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25789914
10.
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.
Br J Haematol
; 184(4): 657-659, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460960
11.
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19.
HLA
; 103(1): e15251, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850268
12.
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Nat Genet
; 30(4): 436-40, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11889465
13.
Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.
Epileptic Disord
; 25(3): 371-382, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186408
14.
An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2-Related Neural Disorder: A Possible New Cell-Based Disease Model.
Cells
; 12(7)2023 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37048050
15.
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey.
Children (Basel)
; 10(9)2023 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761403
16.
The Phenomenon of Multidrug Resistance in Glioblastomas.
Hematol Oncol Stem Cell Ther
; 15(2): 1-7, 2022 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216549
17.
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males.
Autophagy
; 18(7): 1662-1672, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34964709
18.
FOXG1 is responsible for the congenital variant of Rett syndrome.
Am J Hum Genet
; 83(1): 89-93, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18571142
19.
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
Pediatr Nephrol
; 26(5): 717-24, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21380622
20.
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.
Eur J Hum Genet
; 29(5): 745-759, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33456056