Results 221 to 230 of about 13,378 (282)

Focal adhesion-related non-ciliary functions of CEP290. [PDF]

PLoS One
Matsuo K, Nakajima Y, Shigeta M, Kobayashi D, Sakaki S, Inoue S, Takeshita N, Ueyama A, Nishikawa K, Saba R, Yamasaki H, Yamada K, Yokoyama T, Yashiro K.   +13 more
europepmc   +1 more source

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome) [PDF]

Turk J Ophthalmol
Aksoy B, Tigrel G.
europepmc   +1 more source

Non-invasive screening for liver fibrosis by acoustic radiation force impulse in patients with ciliopathies. [PDF]

Sci Rep
Bresch J, König J, Konrad M, Kollmann S, Dahmer-Heath M, Heinzow HS, Praktiknjo M, Trebicka J, Bergmann C, Schmidt HH, Schlevogt B.   +10 more
europepmc   +1 more source

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

, 2017
Sheila Castro‐Sánchez, María Álvarez‐Satta, M.A. Tohamy, Sergi Beltrán, Sophia Derdak, Diana Valverde   +5 more
openalex   +2 more sources

Current insights into renal ciliopathies: what can genetics teach us? [PDF]

core   +1 more source

Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome. [PDF]

Hum Mol Genet
Nitoiu A, Zhang Q, Tavares E, Li JM, Ahmed K, Green-Sanderson K, Rashid M, Morcos SM, Maynes JT, Campos EI, Sheffield VC, Vincent A, Héon E.   +12 more
europepmc   +1 more source

Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies. [PDF]

Commun Med (Lond)
Smith CEL, Streets AJ, Lake AVR, Natarajan S, Best SK, Szymanska K, Karwatka M, Stevenson T, Trowbridge R, Grant G, Grellscheid SN, Foster R, Morrison CG, Mavria G, Bond J, Ong ACM, Johnson CA.   +16 more
europepmc   +1 more source

Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration. [PDF]

Doc Ophthalmol
Pincay J, da Costa BL, Quinn PMJ, Rodriguez M, Zhou A, Kong MD, Sparrow JR, Tsang SH.   +7 more
europepmc   +1 more source

Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies. [PDF]

Kidney Int Rep
Dahmer-Heath M, Gerß J, Fliser D, Liebau MC, Speer T, Telgmann AK, Burgmaier K, Pennekamp P, Pape L, Schaefer F, Konrad M, König JC, NEOCYST Consortium.   +12 more
europepmc   +1 more source

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. [PDF]

, 2011
Foini P, Izzi C, Maffei P, Marega A, Marshall J, Milan G, Scolari F., Tardanico R   +7 more
core   +1 more source