Detalhe da pesquisa
1.
Cellular senescence in kidney biopsies is associated with tubular dysfunction and predicts CKD progression in childhood cancer patients with karyomegalic interstitial nephropathy.
J Pathol
; 261(4): 455-464, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37792603
2.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Hum Mol Genet
; 28(5): 778-795, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30388224
3.
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Pediatr Nephrol
; 33(10): 1701-1712, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29974258
4.
Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.
PLoS Genet
; 10(10): e1004594, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25340510
5.
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
Am J Med Genet A
; 170(6): 1566-9, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26892345
6.
Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.
Front Cell Dev Biol
; 9: 653138, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34055783
7.
Preimplantation Genetic Testing for Monogenic Kidney Disease.
Clin J Am Soc Nephrol
; 15(9): 1279-1286, 2020 09 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32855195
8.
Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies.
J Proteomics
; 192: 27-36, 2019 02 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30071318
9.
The expanding phenotypic spectra of kidney diseases: insights from genetic studies.
Nat Rev Nephrol
; 12(8): 472-83, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27374918
10.
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
Eur J Hum Genet
; 24(12): 1752-1760, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27530628
11.
Non-invasive sources of cells with primary cilia from pediatric and adult patients.
Cilia
; 4: 8, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26034581
12.
Next-generation sequencing for research and diagnostics in kidney disease.
Nat Rev Nephrol
; 10(8): 433-44, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24914583