Results 221 to 230 of about 2,206,324 (288)

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene. [PDF]

HGG Adv
Betz C, Reusch B, Langmann T, Habbig S, Beck BB, Bolz HJ.   +5 more
europepmc   +1 more source

Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report. [PDF]

Korean J Ophthalmol
Goh YH, Hwang S, Kim SJ.
europepmc   +1 more source

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

, 2012
Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, Jana Schroth, Stephanie Bielas, Sarah Marsh, Jesus Olvera, Francesco Brancati, Miriam Iannicelli, Koji Ikegami, Andrew M Schlossman, Barry Merriman, Tania Attié‐Bitach, Clare V. Logan, Ian Glass, Andrew Cluckey, Carrie M Louie, Jeong Ho Lee, Hilary R Raynes, Isabelle Rapin, Ignacio P Castroviejo, Mitsutoshi Setou, Clara Barbot, Eugen Boltshauser, Stanley F. Nelson, Friedhelm Hildebrandt, Colin A. Johnson, Daniel Doherty, Enza Maria Valente, Joseph G. Gleeson   +29 more
openalex   +2 more sources

Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review. [PDF]

Cureus
Alhashimi I, Zoghoul S, Khalil SK, Yousif ZB, Jumah A, Alkailani Y.   +5 more
europepmc   +1 more source

Joubert Syndrome Presenting With Levodopa-Responsive Parkinsonism. [PDF]

J Mov Disord
Hwangbo J, Park KS, Kim HS, Choi JH, Lee JH.   +4 more
europepmc   +1 more source

Joubert syndrome a rare entity and role of radiology: A case report. [PDF]

Ann Med Surg (Lond), 2022
Ullah I, Khan KS, Afridi RU, Shirazi F, Naz I, Ambreen A, Singh M, Asghar MS.   +7 more
europepmc   +1 more source

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

, 2013
Sebiha Cevik, Anna A. W. M. Sanders, Erwin van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I. Kaplan, Sylvia E. C. van Beersum, Ka Man Wu, Stef J.F. Letteboer, Dorus A. Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E. Blacque   +22 more
openalex   +2 more sources

Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. [PDF]

Biol Open
Noble AR, Masek M, Hofmann C, Cuoco A, Rusterholz TDS, Özkoc H, Greter NR, Phelps IG, Vladimirov N, Kollmorgen S, Stoeckli E, Bachmann-Gagescu R.   +11 more
europepmc   +1 more source

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity [PDF]

, 2017
Ian G. Phelps, Jennifer C. Dempsey, Megan E. Grout, Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ruxandra Bachmann‐Gagescu   +6 more
openalex   +1 more source

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome. [PDF]

Int J Mol Sci
Deconte D, Diniz BL, Hartmann JK, de Souza MA, Zottis LFF, Zen PRG, Rosa RFM, Fiegenbaum M.   +7 more
europepmc   +1 more source