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Joubert Syndrome and Renal Implication
Journal of Pediatric Neurology, 2022Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described.
G. Conti +11 more
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Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome.
Ophthalmic Plastic and Reconstructive Surgery, 2023Congenital opticmeningoceles was the term coined to describe large pseudocystic lesions of the intraorbital segment of the optic nerve. This extremely rare congenital anomaly was reported unilaterally only in nonsyndromic patients with fully developed ...
A. Cruz +3 more
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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 +4 more
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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 +4 more
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[Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023OBJECTIVE To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome. METHODS Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected
Dengzhi Zhao +8 more
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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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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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American Journal of Medical Genetics Part A, 2017
Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive midâhindbrain 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 +5 more
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Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive midâhindbrain 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 +5 more
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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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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, 1999Very 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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