Results 71 to 80 of about 2,477,262 (230)

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

What Is a Clinically Meaningful Change in Diabetes Distress? Findings for Diabetes Care and Research From the SFDT1 Cohort

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Diabetes distress (DD) is common and evolves heterogeneously over time. We aimed to estimate minimal clinically important differences (MCID) for the Problem Areas in Diabetes (PAID) scale and its sub‐dimensions and to identify predictors of worsening over 1 year in people with type 1 diabetes (PwT1D).
Dulce Canha, Jean‐Pierre Riveline, Fatima Kazanlieva, Gloria A. Aguayo, Charline Bour, Bruno Vergès, Pierre‐Yves Benhamou, Michaël Joubert, Fawaz Alzaid, Emmanuel Cosson, Guy Fagherazzi   +10 more
wiley   +1 more source

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   +1 more source

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

Journal of Clinical Investigation, 2020
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy, characterized by a pathognomonic hindbrain malformation. All known JBTS-genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles
B. Latour, Julie C. Van De Weghe, Tamara D. S. Rusterholz, S. Letteboer, Arianna Gómez, R. Shaheen, M. Gesemann, Arezou Karamzade, Mostafa Asadollahi, Miguel Barroso-Gil, M. Chitre, Megan E. Grout, J. van Reeuwijk, S. V. van Beersum, Caitlin V. Miller, J. Dempsey, H. Morsy, M. Bamshad, D. Nickerson, S. Neuhauss, K. Boldt, M. Ueffing, M. Keramatipour, J. Sayer, F. Alkuraya, R. Bachmann-Gagescu, R. Roepman, D. Doherty   +27 more
semanticscholar   +1 more source

Coping, Subjective Burden and Mental Health in Family Carers of Dependent Children and Adolescents: A Systematic Review With Meta‐Analysis

Journal of Psychiatric and Mental Health Nursing, EarlyView.
ABSTRACT Introduction Caring for dependent children and adolescents places a substantial emotional and psychological burden on families. Coping strategies may influence the mental health of family carers. Aim To systematically review how coping strategies relate to subjective burden, anxiety, and depressive symptoms in family carers of dependent ...
Juan Carlos Muñoz‐Cruz, Catalina López‐Martínez, Vasiliki Orgeta, Rafael Del‐Pino‐Casado   +3 more
wiley   +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, Yi Wu, Yanlin Wang, Junyu Zhang   +3 more
semanticscholar   +1 more source

Primary cilia–extracellular vesicle crosstalk in Alzheimer's disease: Emerging mechanisms and biomarker potential

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Vishal Singh Guleria, Charisse N. Winston   +1 more
wiley   +1 more source

The role of 99mTc DMSA renal scintigraphy in Joubert syndrome

, 2006
Joubert syndrome is a severe autosomal recessive disorder, which is characterized by hypotonia, impaired psychomotor development, retinal dystrophy with abnormal ocular movements and cerebellar vermis agenesis with dilatation of the fourth ventricle ...
Lay Ergün, ESER, Fani Bozkurt, M., Kara Gedik, G.   +2 more
core   +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

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, Fatema Khatoon, Nazim Khan   +2 more
doaj   +1 more source