Results 221 to 230 of about 20,451 (238)

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro. [PDF]

Cell Tissue Res
De Mori R, Tardivo S, Pollara L, Giliani SC, Ali E, Giordano L, Leuzzi V, Fischetto R, Gener B, Diprima S, Morelli MJ, Monti MC, Sottile V, Valente EM.   +13 more
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Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene.

Stem Cell Res
C M, V S, A O, S C, E R, F S, E M V.
europepmc   +1 more source

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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
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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
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Mortality in Joubert syndrome

American Journal of Medical Genetics Part A, 2017
Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid‐hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and ...
Dempsey, Jennifer C, Phelps, Ian G, Bachmann-Gagescu, Ruxandra, Glass, Ian A, Tully, Hannah M, Doherty, Dan   +5 more
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Joubert syndrome: A review

American Journal of Medical Genetics, 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 ...
Michael Baraitser, Jorge M. Saraiva
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Neuropathology of Joubert Syndrome

Journal of Child Neurology, 1999
Very little documentation of the neuropathologic changes in Joubert syndrome exists. This paper presents a detailed postmortem neuropathologic study of a clinically and radiographically well-documented case of Joubert syndrome. In addition to aplasia of the cerebellar vermis and fragmentation of the dentate nuclei, there was marked dysplasia of ...
Anthony T. Yachnis, Lucy B. Rorke
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MRI of Joubert's syndrome

European Journal of Radiology, 1994
To report five cases of the rare Joubert's syndrome.All five cases were studied by 1.0-Tesla MRI. All the patients showed typical clinical manifestations of Joubert's syndrome including neonatal respiratory abnormalities, developmental delay, ataxia, retinal atrophy and nystagmus.The T1WI of MRI showed characteristic MRI features of Joubert's syndrome ...
San-Kan Lee, Wen-Jye Shian, Kuan-Rong Lee, Chi-Chan Chen, Ching-Shiang Chi, Wu-Chung Shen   +5 more
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Joubert Syndrome and Renal Implication

Journal of Pediatric Neurology, 2022
AbstractTwenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban–Arima syndrome, a JS RD that includes congenital blindness and occasional encephalocele.
Giovanni Conti, Giovanni Farello, Maria Domenica Ceravolo, Monica Fusco, Caterina Cuppari, Alessio Mancuso, Ida Ceravolo, Emanuele David, Giulia Iapadre, Giovanna Scorrano, Maria Francesca Fiorile, Roberto Chimenz   +11 more
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Joubert’s syndrome and prenatal hydrocephalus

Pediatric Neurology, 1999
Joubert's syndrome is an autosomal-recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, a respiratory pattern of alternating tachypnea and apnea, and abnormal eye movements. Radiologic findings include a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ...
Michael T. Gorey, Jeffrey S. Anderson, Joseph F. Pasternak, Barbara L. Trommer   +3 more
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