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Signe de àla dent molaire à: aspect caractéristique en IRM du syndrome de Joubert
The Pan African Medical Journal, 2015 Le syndrome de Joubert est une affection génétique rare, de transmission autosomique récessive, caractérisé par une malformation congénitale du tronc cérébral et une agénésie ou une hypoplasie du vermis cérébelleux entraînant des troubles respiratoires ...
Manel Jellouli, Tahar Gargah
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Joubert Syndrome and related disorders [PDF]
Orphanet Journal of Rare Diseases, 2010 Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain ...
Brancati Francesco +2 more
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Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report [PDF]
BMC Pregnancy and ChildbirthBackground Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can ...
Si-Xiu Li +8 more
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Joubert Syndrome, A Ciliopathy
Pediatric Neurology Briefs, 2013 Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS ...
J Gordon Millichap
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Persistent left superior vena cava discovered during central line insertion in a patient with Joubert syndrome: a case report [PDF]
Journal of Medical Case ReportsBackground Persistent left superior vena cava is the most common thoracic venous anomaly. It is usually asymptomatic and discovered incidentally during diagnostic or therapeutic interventions.
Mohammed Ismail Mohammed Heyba +2 more
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Zespół Joubert i schorzenia pokrewne [PDF]
Neurologia i Neurochirurgia Polska, 1970 The cerebellum plays a role not only in motor control but also in motor learning and cognition. Joubert syndrome is a rare heterogeneous inherited genetic disorder characterized by ataxia, hypotonia, developmental delay, and at least one of the following
Jamroz, Ewa, Paprocka, Justyna
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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome [PDF]
, 2015 Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development.
Susanne Roosing +43 more
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Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism [PDF]
Frontiers in PediatricsJoubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly,
Caichuan Wei +4 more
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