Results 61 to 70 of about 2,206,324 (288)
Frontiers in Genetics, 2022 Prenatal imaging phenotypes and genotypes were analyzed in 13 cases prenatally diagnosed with Joubert syndrome (JS), all of which underwent magnetic resonance imaging (MRI), ultrasound, and genetic testing.
Lingling Huang +6 more
semanticscholar +1 more source
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
Molecular Genetics & Genomic Medicine, 2022 Joubert syndrome (JS) is a genetically heterogeneous disorder; its genetic etiology involves more than 35 genes, and a limited number of studies have investigated the pathogenic mechanism of variants in patients with JS. RNA splicing analysis is critical
Hongjun Fei +3 more
semanticscholar +1 more source
Anesthetic considerations of Joubert syndrome in patients with mitochondrial disease - A case report - [PDF]
Anesthesia and Pain Medicine, 2021 Background Joubert syndrome and mitochondrial disease are rare congenital diseases in which a wide range of symptoms affects multiple organs. Patients with these diseases present characteristic symptoms related to the musculoskeletal, respiratory, and ...
Jeong Yeon Kim +5 more
doaj +1 more source
Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]
, 2019 The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A +9 more
core +1 more source
Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Frontiers in Genetics, 2022 Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz +2 more
semanticscholar +1 more source
An elusive ciliopathy: Joubert syndrome [PDF]
BMJ Case Reports, 2017 The police brought a 65-year-old female patient to the EADU after being found ‘roaming the streets’ in an apparent state of confusion. This was her third admission under the same circumstances during the last 3 years. Neurological examination revealed (1) cognitive impairment, (2) oculomotor apraxia, (3) abnormal cancellation of vestibular ocular ...
Abdul Muhith, Ben Burton, Carlo Canepa
openaire +3 more sources
New insights into CC2D2A-related Joubert syndrome
Journal of Medical Genetics, 2022 Purpose In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes, CC2D2A.
Madeleine Harion +35 more
semanticscholar +1 more source
Renal symptoms in the Joubert syndrome [PDF]
, 2009 OBJECTIVE:To describe the case of a patient with Joubert syndrome associated with renal impairments. CASE DESCRIPTION: A 2 month-old patient was admitted with hypotonia and hyperpneia.
Andrade, Maria Cristina de +2 more
core +4 more sources
Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome
Frontiers in Genetics, 2022 Background: Biallelic variations in the armadillo repeat-containing 9 (ARMC9) gene were recently defined to cause Joubert syndrome (JS) type thirty. In this study, two unrelated families with probands displaying typical indications of JS were enrolled ...
Hao Wang +10 more
semanticscholar +1 more source
The ciliary GTPase Arl13b regulates cell migration and cell cycle progression [PDF]
, 2016 Acknowledgments We acknowledge Prof. Tamara Caspary from Emory University for kindly providing the cell lines, Linda Duncan from the University of Aberdeen Ian Fraser Cytometry Center for help with flow cytometry.
Clancy, Hannah +6 more
core +2 more sources