Detalhe da pesquisa
1.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508234
2.
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Genet Med
; 25(12): 100983, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746849
3.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(5): 789-802, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100090
4.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med
; 376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28121514
5.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(6): 1034, 2017 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220675
6.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Science
; 384(6695): 584-590, 2024 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696583
7.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Nat Commun
; 14(1): 7836, 2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38036523
8.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
medRxiv
; 2023 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577628
9.
A susceptibility gene for kidney disease in an obese mouse model of type II diabetes maps to chromosome 8.
Kidney Int
; 78(5): 453-62, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20520596
10.
Accelerated development of collapsing glomerulopathy in mice congenic for the HIVAN1 locus.
Kidney Int
; 75(4): 366-72, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19092797
11.
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Nat Genet
; 51(4): 764, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30816350
12.
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Nat Genet
; 51(1): 117-127, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30578417
13.
Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression.
J Clin Invest
; 119(5): 1178-88, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19381020
14.
Genetic susceptibility, HIV infection, and the kidney.
Clin J Am Soc Nephrol
; 2 Suppl 1: S25-35, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17699508
15.
Associative Pavlovian conditioning leads to an increase in spinophilin-immunoreactive dendritic spines in the lateral amygdala.
Eur J Neurosci
; 24(3): 876-84, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16930415