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Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene. [PDF]

HGG Adv
Betz C, Reusch B, Langmann T, Habbig S, Beck BB, Bolz HJ.   +5 more
europepmc   +1 more source

Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. [PDF]

Biol Open
Noble AR, Masek M, Hofmann C, Cuoco A, Rusterholz TDS, Özkoc H, Greter NR, Phelps IG, Vladimirov N, Kollmorgen S, Stoeckli E, Bachmann-Gagescu R.   +11 more
europepmc   +1 more source

Joubert syndrome

, 2011
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Joubert syndrome: A review

American Journal of Medical Genetics Part A, 1992
AbstractWe review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. We present the data regarding the clinical, neuroradiological, and ophthalmological manifestations and the prognosis of ...
Jorge M Saraiva, M Baraitser
exaly   +3 more sources

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders

Pediatric Neurology, 2020
BACKGROUND Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.
Shaik Mohammad Naushad
exaly   +2 more sources

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

Clinical neurology and neurosurgery (Dutch-Flemish ed. Print), 2022
OBJECTIVE Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome.
T. A. Uzunhan, Biray Ertürk, K. Aydin, Akif Ayaz, U. Altunoğlu, Murat Hakkı Yarar, A. Gezdirici, D. İçağasioğlu, Ezgi Gokpinar Ili, B. Uyanık, M. Eser, Y. Kutbay, Y. Topçu, B. Kılıç, Gonca Bektaş, A. Akçay, B. Ekici, Amet Chousein, Ş. Avcı, A. Yüksel, H. Kayserili   +20 more
semanticscholar   +2 more sources

Joubert syndrome diagnosed renally late [PDF]

CKJ: Clinical Kidney Journal, 2021
Joubert syndrome is a genetically heterogeneous multisystem disorder typically diagnosed in childhood. Nephronophthisis is the most common renal pathology in Joubert syndrome, and renal failure usually occurs in childhood or in young adults.
Michalis Georgiou, Michel Michaelides, Abhijit Dixit   +2 more
exaly   +1 more source

Joubert syndrome

Nursing Children and Young People, 2017
Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia.
Doreen, Crawford, Annette, Dearmun
  +6 more sources

Review of Ocular Manifestations of Joubert Syndrome

Genes, 2018
Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys.
Tía J Kowal, Ke Ning, Euna Koo
exaly   +2 more sources

Joubert Syndrome

Archives of Ophthalmology, 1989
Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We
S R, Lambert, A, Kriss, M, Gresty, S, Benton, D, Taylor   +4 more
openaire   +2 more sources