Results 71 to 80 of about 2,206,162 (231)
Cureus, 2022 Joubert syndrome is an autosomal recessive genetic disorder that was first described in 1969. It can present with neonatal respiratory distress, ocular motility abnormalities, developmental delays, and other congenital cerebellar malformations.
Rahaf A Mandura, Nawal A Arishi
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Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort
Clinical Genetics, EarlyView.This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir +7 more
wiley +1 more source
Clinical Genetics, EarlyView.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source
Joubert Syndrome with a Rare Ocular Phenotype: Coloboma with Retrobulbar Cysts − A Case Report
Case Reports in Ophthalmology, 2022 Joubert syndrome (JS) is a rare, autosomal recessive, genetic syndrome that derives from the defects in a sensory organelle, the primary cilia. It is a multiorgan disorder affecting the brain, kidneys, liver, and eyes.
Salam Chettiankandi, G. Khan, H. Khan
semanticscholar +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
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Journal of Intellectual Disability Research, Volume 69, Issue 8, Page 664-674, August 2025.ABSTRACT Background Sotos syndrome (SoS) is a rare genetic disorder characterised by physical overgrowth and by frequent intellectual disability and comorbidity with neurodevelopmental disorders. A recent study documented a specific cognitive profile of SoS.
Niccolò Butti +5 more
wiley +1 more source
Translational Science of Rare Diseases, 2019 Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the “molar tooth sign” on brain MRI.
M. Parisi
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Joubert syndrome: unusual story
International Journal of Contemporary Pediatrics, 2022 Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder characterized by hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements and abnormal breathing pattern.
Smita S. Patil +3 more
semanticscholar +1 more source
Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies
Andrology, Volume 13, Issue 5, Page 1044-1064, July 2025.Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Emma Cavarocchi +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
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