Detalhe da pesquisa
1.
Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.
Hum Mol Genet
; 23(19): 5283-93, 2014 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24847005
2.
Combined use of emapalumab and ruxolitinib in a patient with refractory hemophagocytic lymphohistiocytosis was safe and effective.
Pediatr Blood Cancer
; 68(7): e29026, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33754483
3.
In vivo hematopoietic stem cell modification by mRNA delivery.
Science
; 381(6656): 436-443, 2023 07 28.
Artigo
Inglês
| MEDLINE | ID: mdl-37499029
4.
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Blood Adv
; 6(7): 2444-2451, 2022 04 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34920454
5.
Timing and mechanism of conceptus demise in a complement regulatory membrane protein deficient mouse.
Am J Reprod Immunol
; 80(4): e12997, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29924462
6.
Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.
Sci Rep
; 6: 31531, 2016 08 30.
Artigo
Inglês
| MEDLINE | ID: mdl-27572114
7.
Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.
Invest Ophthalmol Vis Sci
; 56(11): 6873-8, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26501415
8.
Genetic variants in the complement system predisposing to age-related macular degeneration: a review.
Mol Immunol
; 61(2): 118-125, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25034031