Results 61 to 70 of about 2,206,162 (231)
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
American Journal of Medical Genetics. Part A, 2022 Joubert syndrome (JS), a well‐established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features.
Monica Penon-Portmann +13 more
semanticscholar +1 more source
Neurology: Genetics, 2022 Background and Objectives We describe 2 long-surviving siblings with a mild phenotype of Joubert syndrome (JBTS) harboring a novel compound heterozygous missense variant in the CPLANE1 gene.
Kento Matoba +8 more
semanticscholar +1 more source
Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development
Developmental Dynamics, EarlyView.Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin +8 more
wiley +1 more source
Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture [PDF]
Journal of Krishna Institute of Medical Sciences University, 2021 Joubert Syndrome (JS) is a rare congenital condition first reported by French Neurologist Marie Joubert in 1969 which shows multi-organ manifestations including developmental, neurological, renal, hepatic, ocular and orofacial abnormalities.
Vathsala Patil +5 more
doaj
International Journal of Cancer, EarlyView.What's New? The rarity of acute lymphoblastic leukaemia and lack of available environmental data have made the role of environmental factors in genetic subtypes challenging to investigate. Here, the authors performed a CpG‐level analysis to investigate DNA methylation as an intermediate mechanism between environmental risk exposures and acute ...
Jessica R. Saville +5 more
wiley +1 more source
Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome
Developmental Medicine & Child NeurologyHydrocephalus is rarely described in Joubert‐Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center,
M. Gafner +9 more
semanticscholar +1 more source
When you find a tooth in the brain, call joubert for help
APIK Journal of Internal Medicine, 2020 Joubert syndrome is an extremely rare autosomal recessive condition characterized by agenesis of the cerebellar vermis. This has characteristic imaging features which have been described in this article.
Suhas Murali, Karthik Nagraj
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective cohort study, comprising 229 cases with VM.
Anouk Moens +12 more
wiley +1 more source
Joubert syndrome: a case report
Bulletin of Faculty of Physical Therapy, 2021 Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and ...
Sarfaraz Alam +2 more
doaj +1 more source
World Journal of Surgery, EarlyView.South Africa faces a high burden of trauma‐related vascular injury. Prompt diagnosis and management are crucial to limit morbidity and mortality. Literature recommends a thorough vascular examination of at‐risk patients. Ankle brachial index (ABI) and arterial pressure index (API) are considered reliable screening tools for lower extremity vascular ...
Rubinette Robbertze +4 more
wiley +1 more source