Results 21 to 30 of about 2,206,162 (231)
Behavioral Correlates of Caregiver‐Reported Oral Health of Individuals With Joubert Syndrome: A Cross‐Sectional Observational Study [PDF]
Spec Care DentistABSTRACT Aim To identify the behavioral correlates of caregiver‐reported oral health of individuals with Joubert Syndrome (JS). Methods This cross‐sectional study included 302 caregivers of individuals with JS from the JS registry who responded to a 56‐item REDCap survey, and a purposive subset of 30 participants with JS for which a dental screening ...
Aung S +6 more
europepmc +2 more sources
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
doaj +2 more sources
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
doaj +9 more sources
Radiological features of Joubert syndrome and clinical case presentation [PDF]
Radiology Case ReportsJoubert Syndrome, manifests in a spectrum of neurological symptoms. This case describes a 7-year-old girl with perinatal complications, and subsequent neurodevelopmental challenges. An MRI confirmed the diagnosis of Joubert syndrome, with the distinctive
Jorge Ariel Montero Torres, MD +4 more
doaj +2 more sources
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
doaj +4 more sources
Dental Management of a Child with Joubert Syndrome. [PDF]
Iran J Child Neurol, 2022 Joubert syndrome is a rare genetic autosomal recessive disorder, which is estimated to occur in 80,000 to 100,000 live births. Brain magnetic resonance imaging (MRI) indicating the molar tooth sign can be an important indicator of Joubert syndrome ...
Rafatjou R, Torkaman S, Daneshyar F.
europepmc +2 more sources
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
doaj +2 more sources
Joubert syndrome with cleft palate
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014 Joubert syndrome is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the "molar tooth sign" on axial magnetic resonance images. Many congenital malformations such as
Annavarapu Gopalakrishna +4 more
doaj +3 more sources