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.
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
4.
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.
Hum Mutat
; 39(2): 302-314, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29098738
5.
Digenic Alport Syndrome.
Clin J Am Soc Nephrol
; 17(11): 1697-1706, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675912
6.
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19.
Viruses
; 14(6)2022 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35746657
7.
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
8.
Pathogen-sugar interactions revealed by universal saturation transfer analysis.
Science
; 377(6604): eabm3125, 2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35737812
9.
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
J Pers Med
; 11(6)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203982
10.
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study.
Elife
; 102021 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33650967
11.
SELP Asp603Asn and severe thrombosis in COVID-19 males.
J Hematol Oncol
; 14(1): 123, 2021 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34399825
12.
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
13.
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males.
EBioMedicine
; 65: 103246, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33647767
14.
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation.
Transplantation
; 104(11): 2360-2364, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31895869
15.
AAV-mediated FOXG1 gene editing in human Rett primary cells.
Eur J Hum Genet
; 28(10): 1446-1458, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32541681
16.
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Eur J Hum Genet
; 28(9): 1231-1242, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32332872
17.
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Eur J Hum Genet
; 28(4): 480-490, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754267
18.
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Eur J Hum Genet
; 32(1): 131, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36653516
19.
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Eur J Hum Genet
; 32(1): 134, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732665
20.
Correction: The 2019 and 2021 International workshops on Alport syndrome.
Eur J Hum Genet
; 32(1): 130, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36690832