Detalhe da pesquisa
1.
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Hum Mutat
; 39(1): 152-166, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29068549
2.
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
Hum Mol Genet
; 25(18): 4012-4020, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466190
3.
Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins.
Brief Bioinform
; 16(2): 255-64, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24626529
4.
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
EMBO Mol Med
; 12(11): e11739, 2020 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200460
5.
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
Cilia
; 6: 7, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28400947
6.
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.
Sci Rep
; 6: 34232, 2016 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666822
7.
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Nat Genet
; 48(6): 648-56, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27158779
8.
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
Nat Commun
; 6: 7092, 2015 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077881
9.
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nat Commun
; 6: 7074, 2015 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26044572
10.
Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Nat Genet
; 48(8): 970, 2016 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27463398
11.
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nat Commun
; 7: 11270, 2016 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27021811