Results 191 to 200 of about 20,451 (238)

Molar Tooth Sign in an Ischemic Stroke Patient: Could It Be Asymptomatic Joubert Syndrome?

, 2014
Ersin Kasım Ulusoy, Şule Bilen, Fikri Ak   +2 more
openalex   +2 more sources

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center [PDF]

, 2017
Angela C. Summers, Joseph Snow, Edythe Wiggs, Alexander Liu, Camilo Toro, Andrea Poretti, Wadih M. Zein, Brian P. Brooks, Melissa A. Parisi, Sara K. Inati, Dan Doherty, Meghana Vemulapalli, Jim Mullikin, Thierry Vilboux, William A. Gahl, Meral Gunay‐Aygun   +15 more
openalex   +1 more source

Zfp423, a Joubert syndrome gene, is a domain-specific regulator of cell cycle progression, DNA damage response and Purkinje cell development in the cerebellar primordium [PDF]

, 2017
Filippo Casonil, Laura Crocil, Camilla Bosonel, Roberta D’Ambrosio, Aurora Badaloni, Davide Gaudesi, Valeria Barilil, Justyna R. Sarna, Lino Tessarollo, Ottavio Cremona, Richard Hawkes, Søren Warming, G. Giacomo Consalez   +12 more
openalex   +1 more source

Aberrant activation of IL-6/JAK/STAT3/FOSL1 signaling induces renal abnormalities in a Xenopus model of Joubert syndrome-related disorders. [PDF]

J Biol Chem
Uuganbayar U, Ninomiya H, Shimada IS, Yamada C, Kanie M, Kawai S, Asai T, Miyoshi-Akiyama T, Itoh M, Hashimoto Y, Kato Y.   +10 more
europepmc   +1 more source

Joubert Syndrome Presenting With Normal Pyramidal Decussation: A Case Report [PDF]

, 2017
Nam-Sik Kim, Sung-Hee Park
openalex   +1 more source

Open isthmus and lambda sign of early Joubert syndrome: elucidating development of molar tooth sign. [PDF]

Ultrasound Obstet Gynecol
Pooh RK, Takeda M, Itoh K, Yoshimatsu J, Ogo K, Machida M, Ohashi H, Shimokawa O.   +7 more
europepmc   +1 more source

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa. [PDF]

Pharmgenomics Pers Med
Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY.   +9 more
europepmc   +1 more source

Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway. [PDF]

J Cell Mol Med
Hong Z, Xiang S, Chen Z, Qiu X, Zhang L, Ma L, Wang M.   +6 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

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