Detalhe da pesquisa
1.
An interdisciplinary consensus on the management of brain metastases in patients with renal cell carcinoma.
CA Cancer J Clin
; 72(5): 454-489, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35708940
2.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863007
3.
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Cell
; 145(4): 513-28, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21565611
4.
Pseudouridine synthase 7 is an opportunistic enzyme that binds and modifies substrates with diverse sequences and structures.
Proc Natl Acad Sci U S A
; 119(4)2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35058356
5.
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Hum Mutat
; 43(9): 1268-1285, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35475554
6.
Multidisciplinary integrated care pathway for von Hippel-Lindau disease.
Cancer
; 128(15): 2871-2879, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579632
7.
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
em Inglês
| MEDLINE | ID: mdl-30388224
8.
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies.
Mol Cell
; 51(4): 423-39, 2013 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23973373
9.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Hum Mutat
; 41(12): 2179-2194, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131181
10.
Transgenic zebrafish modeling low-molecular-weight proteinuria and lysosomal storage diseases.
Kidney Int
; 97(6): 1150-1163, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32061435
11.
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hum Mol Genet
; 27(3): 529-545, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228333
12.
Axitinib plus immune checkpoint inhibitor: evidence- and expert-based consensus recommendation for treatment optimisation and management of related adverse events.
Br J Cancer
; 123(6): 898-904, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32587360
13.
Adipogenesis: A Complex Interplay of Multiple Molecular Determinants and Pathways.
Int J Mol Sci
; 21(12)2020 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32560163
14.
Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.
Clin Genet
; 96(5): 461-467, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368132
15.
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Am J Hum Genet
; 96(1): 81-92, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557784
16.
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
em Inglês
| MEDLINE | ID: mdl-29974258
17.
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
J Med Genet
; 54(6): 371-380, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28289185
18.
Patient-reported outcomes: what really matters to patients?
Lancet Oncol
; 23(5): e198, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35489342
19.
Reply to "von Hippel-Lindau disease integrated care pathway: Centralizing, expanding specialists' theatre, and measuring improvement".
Cancer
; 128(22): 4029, 2022 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36169335
20.
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
J Cell Sci
; 128(24): 4550-9, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26546361