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1.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 105(4): 844-864, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38154558
2.
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
J Med Genet
; 54(9): 624-632, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28442542
3.
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
Hum Mol Genet
; 24(6): 1584-601, 2015 Mar 15.
Article
in English
| MEDLINE | ID: mdl-25398945
4.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
medRxiv
; 2023 Mar 22.
Article
in English
| MEDLINE | ID: mdl-36993625
5.
CiliaCarta: An integrated and validated compendium of ciliary genes.
PLoS One
; 14(5): e0216705, 2019.
Article
in English
| MEDLINE | ID: mdl-31095607
6.
SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium.
J Cell Biol
; 217(8): 2851-2865, 2018 08 06.
Article
in English
| MEDLINE | ID: mdl-29899041
7.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nat Commun
; 7: 11491, 2016 05 13.
Article
in English
| MEDLINE | ID: mdl-27173435
8.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Nat Cell Biol
; 17(8): 1074-1087, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26167768
9.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Nat Genet
; 45(8): 951-6, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23793029
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