Results 141 to 150 of about 19,788 (203)

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33. [PDF]

Mol Syndromol
Aynekin B, Samur BM, Ozgul Gumus UG, Bilguvar K, Gulec A, Efthymiou S, Gumus H, Caglayan AO, Per H.   +8 more
europepmc   +1 more source

Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations. [PDF]

Ther Adv Respir Dis
Ju-Wang JD, Dempsey JC, Zhang C, Doherty D, Witmans M, Tablizo MA, Chen ML.   +6 more
europepmc   +1 more source

Retraction notice to "Prenatal Diagnosis of Joubert Syndrome: A case report" [Radiol. Case Rep. 19/10 (October 2024) 4369-4374]. [PDF]

Radiol Case Rep
Yen VTH.
europepmc   +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

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

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

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

core   +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