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1.
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Am J Hum Genet
; 97(6): 878-85, 2015 Dec 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-26626625
2.
Characterization of Primary Cilia in Normal Fallopian Tube Epithelium and Serous Tubal Intraepithelial Carcinoma.
Int J Gynecol Cancer
; 28(8): 1535-1544, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30095490
3.
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
Am J Hum Genet
; 93(6): 1135-42, 2013 Dec 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-24290375
4.
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
Hum Mol Genet
; 22(7): 1358-72, 2013 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23283079
5.
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/ß-catenin signalling in the developing cerebellum via Hoxb5.
Sci Rep
; 9(1): 5446, 2019 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30931988
6.
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
Dis Model Mech
; 8(6): 527-41, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-26035863
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26167768
8.
IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.
Dev Cell
; 31(3): 279-290, 2014 Nov 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-25446516
9.
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Nat Genet
; 46(2): 188-93, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24336167
10.
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Nat Genet
; 43(12): 1189-92, 2011 Nov 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-22101682
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