Results 11 to 20 of about 2,206,162 (231)
Genotype-phenotype correlates in Joubert syndrome: A review. [PDF]
Am J Med Genet C Semin Med Genet, 2022 Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable organ involvement.
Gana S, Serpieri V, Valente EM.
europepmc +2 more sources
Chronic vomiting revealing Joubert syndrome: A case report [PDF]
Radiology Case ReportsJoubert syndrome is a rare autosomal recessive disorder characterized by the presence of the molar tooth sign on imaging. We report the case of a 5-year-old girl diagnosed with Joubert syndrome during the investigation of chronic vomiting.
Leila Haddar +7 more
doaj +2 more sources
Good outcome of tracheostomy in a COVID‐19 child with Joubert syndrome—Case report [PDF]
Clinical Case Reports, 2023 Pediatric tracheostomy in COVID‐19 patients is a rarity. Joubert syndrome is a rare genetic disease, involving a lack of muscle control. We report the case of a child with Joubert syndrome and a severe form of COVID‐19 infection, in whom we performed ...
Veronica Epure +2 more
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An infant with Joubert syndrome: A case report [PDF]
Radiology Case Reports, 2023 Joubert syndrome is a rare neurological and developmental malfunction represented by decreased muscle tone, ataxia, and delayed developmental milestones.
Shehroze Tabassum, MBBS +4 more
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High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses [PDF]
Balkan Med JBackground: The fetal monogenic causes of early pregnancy losses (EPLs) are mainly unknown, with only a few articles on the subject published. In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of ...
Bozhinovski G +3 more
europepmc +2 more sources
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro. [PDF]
Cell Tissue ResJoubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements, intellectual disability, and a peculiar cerebellar and brainstem malformation, the "molar tooth sign." Over 40 ...
De Mori R +13 more
europepmc +2 more sources
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome. [PDF]
Genes (Basel), 2023 The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features.
Cabrita Pinto RL +8 more
europepmc +2 more sources
Joubert syndrome: A classic case
Journal of Family Medicine and Primary Care, 2019 Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia ...
Puneeth Kumar +5 more
doaj +4 more sources
Development of a Child with Joubert Syndrome
The Spanish Journal of Psychology, 2001 The article describes the development of a child with Joubert Syndrome who, since the age of 16 months, has received personalized stimulation therapy at home and in the Early Intervention Unit (EIU) of the Faculty, in each of the five areas considered by the Portage Guide to Early Education: socialization, language, self-help, cognition, and motoricity.
M. José Buceta +2 more
openaire +5 more sources
Joubert syndrome: Molecular basis and treatment. [PDF]
J Mother Child, 2022 Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called “molar tooth sign.” Other characteristic features are ...
Spahiu L +4 more
europepmc +2 more sources