Results 71 to 80 of about 19,788 (203)
Case series: Joubert syndrome and eosinophilic esophagitis
JPGN Reports, Volume 7, Issue 2, Page 329-331, May 2026.Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening +5 more
wiley +1 more source
Adult-onset bulbar ptosis in Joubert syndrome
Clinical Ophthalmology, 2012 Benjamin Burt, Johanan Levine, Kim LeTexas Tech University, Department of Ophthalmology, Paul L Foster School of Medicine, El Paso, TexasAbstract: In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome ...
Burt B, Levine J, Le K
doaj
Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]
, 2020 Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP +12 more
core +2 more sources
Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 842-848, May 2026.ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik +9 more
wiley +1 more source
Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks [PDF]
, 2016 This is the final version of the article. Available from the publisher via the DOI in this record.BACKGROUND: Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases termed ...
Barker, AR +3 more
core +1 more source
European Journal of Clinical Investigation, Volume 56, Issue 5, May 2026.A zebrafish morpholino knockdown model targeting ahi1 enables efficient phenotypic assessment of ciliopathy‐related defects and functional evaluation of variants of uncertain significance. This assay clarifies the impact of VUSs, supporting zebrafish morphants as a reliable platform for validating ciliopathy‐associated genetic variants.
Carla Aresi +8 more
wiley +1 more source
Genetic diseases with impaired central respiratory control
The EuroBiotech Journal, 2017 Respiration is controlled by the complex orchestration of central nervous system centers, peripheral chemoreceptors and muscles of respiration and is shaped by complex ontogenetic factors.
Rosso Lourdes M. Del, Ferri Raffaele
doaj +1 more source
The molecular basis of human retinal and vitreoretinal diseases [PDF]
, 2010 During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W +2 more
core +1 more source
Physiological Reports, Volume 14, Issue 9, May 2026.Abstract Heart failure with preserved ejection fraction (HFpEF) accounts for nearly half of heart failure cases and is characterized by diastolic dysfunction, myocardial fibrosis, inflammation, and endothelial alterations. However, relevant preclinical models remain limited.
Mona Guetlin +7 more
wiley +1 more source
Indian pediatrics, 1995 Joubert's syndrome is clinically characterized by attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, psychomotor retardation, and ataxia. Anatomic anomalies include cerebellar vermis agenesis with dilatation of the fourth ventricle. It is an autosomal recessive disorder; onset is in the neonatal period and prognosis is
A, Chattopadhyay +5 more
openaire +3 more sources