Results 51 to 60 of about 2,206,162 (231)

Healthcare recommendations for Joubert syndrome [PDF]

American Journal of Medical Genetics Part A, 2019
AbstractJoubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the “Molar Tooth Sign”. Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems ...
Friedhelm Hildebrandt, Friedhelm Hildebrandt, Enza Maria Valente, Jennifer C. Dempsey, Hester Y. Kroes, Stefano D'Arrigo, Wadih M. Zein, John A. Sayer, John A. Sayer, Meral Gunay-Aygun, Meral Gunay-Aygun, Ian A. Glass, Dana Knutzen, Dana Knutzen, Angela C. Summers, Angela C. Summers, Dan Doherty, Dan Doherty, Eugen Boltshauser, Maida L. Chen, Maida L. Chen, Ruxandra Bachmann-Gagescu, Stephen H. Mack, Sara Bulgheroni, Joseph Snow, Theo Heller, Sara Nuovo, Melissa A. Parisi, Elise Héon, Nirmal Joshi, Jordan M. Symons, Jordan M. Symons   +31 more
openaire   +4 more sources

Anesthetic considerations of Joubert syndrome in patients with mitochondrial disease - A case report - [PDF]

Anesthesia and Pain Medicine, 2021
Background Joubert syndrome and mitochondrial disease are rare congenital diseases in which a wide range of symptoms affects multiple organs. Patients with these diseases present characteristic symptoms related to the musculoskeletal, respiratory, and ...
Jeong Yeon Kim, Koun Jeong, Ki Seob Han, Ji Eun Park, Mun Gyu Kim, Mi Roung Jun   +5 more
doaj   +1 more source

Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome

Frontiers in Genetics, 2022
Background: Biallelic variations in the armadillo repeat-containing 9 (ARMC9) gene were recently defined to cause Joubert syndrome (JS) type thirty. In this study, two unrelated families with probands displaying typical indications of JS were enrolled ...
Hao Wang, Guanjun Luo, Wensheng Hu, Jin Mei, Yue Shen, Min Wang, Yuan Tan, Yang Yang, Chao Lu, Yong Zhao, M. Qi   +10 more
semanticscholar   +1 more source

KIAA0586is Mutated in Joubert Syndrome [PDF]

Human Mutation, 2015
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. JS is part of a group of disorders called ciliopathies based on their overlapping phenotypes and common underlying pathophysiology linked to primary cilium dysfunction. Biallelic mutations in one of 28 genes, all encoding proteins
Charles Marques Lourenço, Gisele E. Ishak, Ian G. Phelps, Jennifer C. Dempsey, Mutluay Arslan, Vivek A. Sharma, Evan A. Boyle, Evan A. Boyle, Dan Doherty, Ruxandra Bachmann-Gagescu, Meredith Wilson, Jay Shendure   +11 more
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Neonatal Joubert Syndrome With Renal Involvement and Respiratory Distress

Cureus, 2022
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder with characteristic clinical presentation of hyperpnea-apnea spells, hypotonia, dysmorphic facies, and nystagmus and imaging features of molar tooth sign and cerebellar ...
B. Agarwal, S. Mohapatra, Sumedha Singh, V. Guduru, S. R. Nayak   +4 more
semanticscholar   +1 more source

An elusive ciliopathy: Joubert syndrome [PDF]

BMJ Case Reports, 2017
The police brought a 65-year-old female patient to the EADU after being found ‘roaming the streets’ in an apparent state of confusion. This was her third admission under the same circumstances during the last 3 years. Neurological examination revealed (1) cognitive impairment, (2) oculomotor apraxia, (3) abnormal cancellation of vestibular ocular ...
Abdul Muhith, Ben Burton, Carlo Canepa
openaire   +3 more sources

Molar tooth sign − looking beyond the obvious

South African Journal of Radiology, 2013
The molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder characterised by the neuroradiological hallmark of the molar tooth sign caused by ...
Nasreen Mahomed, Sanjay P. Prabhu
doaj   +1 more source

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

F1000Research, 2022
Background. Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with an estimated prevalence of 1 in 100,000. JS is characterized by hyperpnoea, hypotonia, ataxia, developmental delay and various neuropathological abnormalities in the brain ...
L. Spahiu, J. Sayer, E. Behluli, T. Liehr, G. Temaj   +4 more
semanticscholar   +1 more source

Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report

Nature and Science of Sleep, 2022
Rosa Peraita-Adrados Sleep and Epilepsy Unit- Clinical Neurophysiology Service, University General Hospital and Research Institute Gregorio Marañón, University Complutense of Madrid (UCM), Madrid, SpainCorrespondence: Rosa Peraita-Adrados, Email rosa ...
Peraita-Adrados R
doaj  

Ocular Manifestations Leading to a Diagnosis of Joubert Syndrome Related Disorder.

Nepalese Journal of Ophthalmology, 2022
INTRODUCTION Joubert syndrome is an inherited disorder of rare occurrence usually presenting as developmental delay, hypotonia, hyperpnea and ataxia. The diagnosis is confirmed by characteristic findings in neuroimaging.
D. Jain, V. Ravishankar
semanticscholar   +1 more source