Results 171 to 180 of about 11,932 (230)

Clinical Variability of ADPKD in Monozygotic Twins. [PDF]

Kidney Int Rep
Mohib O, Van Cauwelaert S, Pölsler L, Van Der Niepen P, Brussaard C, Van Vlem B, Schauer R, Harris PC, Janssens P.   +8 more
europepmc   +1 more source

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report. [PDF]

J Med Case Rep
Demirtas İ, Bek SG.
europepmc   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies. [PDF]

Clin Genet
Boutaud L, Li C, Moncler C, Verlin L, Garfa-Traoré M, Bourgon N, Akbari D, Porée J, Serpieri V, Panza M, Haddad L, Nitschké P, Aziza J, Matt C, Valente EM, Gargallo P, Dubucs C, Attié-Bitach T, Leroux MR, Thomas S.   +19 more
europepmc   +1 more source

LRRC56 deficiency cause motile ciliopathies in humans and mice. [PDF]

Front Genet
Xie XH, Gu H, Yang JL, Yuan ZZ, Qin KL, Tan ZP.   +5 more
europepmc   +1 more source

CILIOPATIAS E DOENÇA RENAL [PDF]

, 2012
Francisco Fabião Fernandes Correia Gouveia
core  

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant. [PDF]

NPJ Genom Med
Jean MM, Yunis A, Elbaz-Biton T, Dolgin V, Narkis G, Michaelovsky A, Eskin-Schwartz M, Tsitrina AA, Agam N, Poleg T, Safran A, Freund O, Hadar N, Levy D, Shelef I, El Amour K, Flusser H, Birk OS.   +17 more
europepmc   +1 more source

<i>TTC21B</i> variants disrupt the left-right asymmetry and pronephric development in zebrafish. [PDF]

Genes Dis
Deng L, Yang Y, Yin X, Yang J, Duan Y, Wang K, Duan W, Zhang Y, Xiong B, Zhou J.   +9 more
europepmc   +1 more source

Primary ciliary dyskinesia phenotypes and correlation with genotype. [PDF]

Curr Opin Pulm Med
Horani A, Wee W, Omran H, Ferkol T.
europepmc   +1 more source

Identification of conserved residues essential for the ciliogenic functions of WDPCP. [PDF]

Dis Model Mech
Choi YJ, Hwang S, Lee C, Zeng H, Chen X, Jo U, Kim H, Liu A, Park D, Wallingford JB, Chen J.   +10 more
europepmc   +1 more source

Duplicated pituitary gland plus syndrome with thoracoabdominal findings suggesting abnormal axial mesodermal signaling and ciliopathy. [PDF]

Pediatr Radiol
Sarma A, A Knake L, Hernanz-Schulman M, Cassini T, Pruthi S.   +4 more
europepmc   +1 more source