Results 181 to 190 of about 11,057 (243)

Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report. [PDF]

Case Rep Ophthalmol
Pericak JM, Chin EK, Almeida DRP.
europepmc   +1 more source

Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes. [PDF]

Front Vet Sci
Toler S, Abrams K, Ward D.
europepmc   +1 more source

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies. [PDF]

HGG Adv
Rushforth R, Reynolds K, Estes SI, Nolan DK, Mori M, Koboldt DC, Hunter JM, Stottmann RW.   +7 more
europepmc   +1 more source

MOESM1 of Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons

, 2018
Judith G.M. Bergboer, Cameron Wyatt, Christina Austin‐Tse, Emre Yaksi, Iain A. Drummond   +4 more
openalex   +2 more sources

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome. [PDF]

PLoS Genet
Leong WY, Tung WL, Wilkie AOM, Hor CHH.
europepmc   +1 more source

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa

, 2019
Vítor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy Duong, Vinit B. Mahajan, Stephen H. Tsang   +6 more
openalex   +1 more source

A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report. [PDF]

J Med Case Rep
Acosta-Paguada LF, Velásquez-Hernandez MS, Bonilla Medina PS, Perdomo Domínguez ES.   +3 more
europepmc   +1 more source

CCDC138 overexpression predicts poor prognosis and highlights ciliopathy-linked mechanisms in uterine corpus endometrial carcinoma. [PDF]

Front Mol Biosci
Wang A, Yang F, Zhang C, Li S, Fu H.
europepmc   +1 more source

Loss of the Reissner Fiber and increased URP neuropeptide signaling underlie scoliosis in a zebrafish ciliopathy mutant

, 2019
Christine Vesque, Isabelle Anselme, Guillaume Pézeron, Yasmine Cantaut-Belarif, Alexis Eschstruth, Morgane Djebar, Diego López Santos, Hélène Le Ribeuz, Arnim Jenett, Hanane Khoury, Joëlle Véziers, Caroline Parmentier, Sylvie Schneider‐Maunoury   +12 more
openalex   +1 more source

Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data. [PDF]

Kidney Int Rep
Braunisch MC, Großewinkelmann CM, Menke M, Hannane N, Berutti R, Ćomić J, Günthner R, Renders L, Schmaderer C, Heemann U, Riedhammer KM, Wagner M, Hoefele J.   +12 more
europepmc   +1 more source