Detalhe da pesquisa
1.
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Am J Hum Genet;
110(3): 442-459, 2023 03 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36812914
2.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Proc Natl Acad Sci U S A;
120(22): e2211087120, 2023 05 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37216524
3.
Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis.
Nephrol Dial Transplant;
37(10): 1895-1905, 2022 09 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35485766
4.
Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies.
Clin Nephrol;
94(4): 197-206, 2020 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32870147
5.
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Genome Med;
15(1): 62, 2023 08 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37612755
6.
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing.
J Mol Diagn;
24(6): 619-631, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35398599
7.
MTBP phosphorylation controls DNA replication origin firing.
Sci Rep;
11(1): 4242, 2021 02 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33608586
8.
Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.
Kidney Int Rep;
6(5): 1368-1378, 2021 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34013115
9.
Post-COVID syndrome in non-hospitalised patients with COVID-19: a longitudinal prospective cohort study.
Lancet Reg Health Eur;
6: 100122, 2021 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34027514
10.
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Nat Commun;
10(1): 4919, 2019 10 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31664039