Results 31 to 40 of about 2,206,162 (231)
Phenotypic manifestations of C5orf42 pathogenic variants [PDF]
Romanian Journal of Pediatrics, 2022 Joubert syndrome is a genetic disease with an autosomal-recessive or X-linked inheritance pattern caused by pathogenic variants in at least 35 genes, all encoding structures of the primary cilium involved in signaling pathways that coordinate the normal ...
Elena-Silvia Shelby +4 more
doaj +1 more source
Visual function in children with Joubert syndrome
Developmental Medicine & Child Neurology, 2023 To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects.
F. Morelli +9 more
semanticscholar +1 more source
BMC Medical Genetics, 2020 Background Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. Case presentation A two-year-old
Yue Shen +14 more
doaj +1 more source
Joubert Syndrome with Renal and Cerebral Manifestations: A Case Series of Three Siblings [PDF]
Journal of Clinical and Diagnostic Research, 2023 Joubert syndrome is a rare genetic disorder. Marie Joubert made the first official diagnosis of the syndrome in 1969. It is characterised by aberrant neurodevelopment and a complex midbrain-hindbrain malformation which can be seen on the Magnetic ...
Sushant Kumar, Ashok Bhat
doaj +1 more source
Periventricular nodular heterotopias an atypical manifestation of Joubert syndrome
Nepal Journal of Neuroscience, 2021 Joubert syndrome (JS) is characterized by varying degrees of mid and hindbrain malformations. A thickened superior cerebellar peduncle (“molar tooth sign”), varying degree of cerebellar vermian clefting, and an oddly shaped (“bat-wing”) fourth ventricle ...
Himanshu Mishra, Amit Kumar
doaj +1 more source
BMC Medical Genomics, 2023 Background KIAA0586 , also known as Talpid3 , plays critical roles in primary cilia formation and hedgehog signaling in humans. Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), which is a clinically and ...
Yue Shen +7 more
semanticscholar +1 more source
Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome [PDF]
International Journal of Anatomy Radiology and Surgery, 2017 Introduction: Joubert syndrome is rare autosomal recessive/X-linked disorder involving the posterior fossa structures. It is often missed clinically and radiologically.
Preetam B Patil +3 more
doaj +1 more source
A novel non-sense variant in the OFD1 gene caused Joubert syndrome
Frontiers in Genetics, 2023 Background: Joubert syndrome (JBS) is a rare neurodevelopmental disorder associated with progressive renal, liver, and retinal involvement that exhibits heterogeneity in both clinical manifestations and genetic etiology.
Chen Li +9 more
semanticscholar +1 more source
Rare case of a floppy neonate: Joubert syndrome
Current Medicine Research and Practice, 2021 Joubert syndrome presenting during the neonatal period is very rare. We report a term neonate who presented with perinatal asphyxia followed by episodic tachypnoea interspersed with apnoea and seizures.
Kumar Ankur +4 more
doaj +1 more source