Results 91 to 100 of about 2,206,162 (231)
eLife, 2015 Small G-proteins of the ADP-ribosylation-factor-like (Arl) subfamily have been shown to be crucial to ciliogenesis and cilia maintenance. Active Arl3 is involved in targeting and releasing lipidated cargo proteins from their carriers PDE6δ and UNC119a/b ...
Katja Gotthardt +5 more
doaj +1 more source
An overview of current prenatal genetic screening and diagnosis guidelines
Pregnancy, Volume 1, Issue 3, May 2025.Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli +3 more
wiley +1 more source
Neurocognitive Functions and Behavior in Joubert Syndrome
Pediatric Neurology Briefs, 2016 Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.
Andrea Poretti, Gwendolyn J. Gerner
doaj +1 more source
Methods to Assess Neuronal Primary Cilia Electrochemical Signaling
Journal of Cellular Physiology, Volume 240, Issue 4, April 2025.Hippocampal neuron primary cilia are illuminated with a fluorescent biosensor. ABSTRACT Primary cilia are polymodal sensory organelles which project from the apical side of polarized cells. They are found in all brain hemispheres but are most pronounced in neurons, which comprise the granular layers of the hippocampus and cerebellum.
Paul G. DeCaen, Louise F. Kimura
wiley +1 more source
Fetal Corpus Callosum Anomalies
Journal of Ultrasound in Medicine, Volume 44, Issue 4, Page 637-652, April 2025.Anomalies of the corpus callosum (CC) are amongst the most common fetal Central Nervous System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an important part in defining prognosis. Associations with aneuploidy and submicroscopic chromosomal deletions or duplications have been well demonstrated using chromosomal microarray ...
Valeria Lanzarone +2 more
wiley +1 more source
Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
Case Reports in Pediatrics, 2015 We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement.
Rama Krishna Sanjeev +4 more
doaj +1 more source
Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
Case Reports in Pediatrics, 2011 We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention.
Harjinder Gill +4 more
doaj +1 more source
Joubert Syndrome: A Case Report
Nepal Journal of Neuroscience, 2018 Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Prakash Kafle +5 more
doaj +1 more source
Lingual Frenectomy in Joubert Syndrome
The Journal of Contemporary Dental Practice, 2017 ABSTRACT Aim Our aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones. Background Ciliopathies are an emerging class of diseases of which JS is a significant member.
Minal Gurjar +3 more
openaire +2 more sources