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Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S, Serpieri V, Valente EM. Gana S, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35238134 Free PMC article. Review.
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign," and variable organ involvement. Over 40 causative genes have been identified to date, expla
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brains
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Van De Weghe JC, Gomez A, Doherty D. Van De Weghe JC, et al. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:301-329. doi: 10.1146/annurev-genom-121321-093528. Epub 2022 Jun 2. Annu Rev Genomics Hum Genet. 2022. PMID: 35655331 Free PMC article. Review.
The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advances and challenges in Mendelian human genetics over the past half century. ...The JS phenotype alone is caused by pathogenic variants …
The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for …
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.
Abdel Razek AA, Castillo M. Abdel Razek AA, et al. J Comput Assist Tomogr. 2016 Jan-Feb;40(1):14-25. doi: 10.1097/RCT.0000000000000340. J Comput Assist Tomogr. 2016. PMID: 26599961 Review.
Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. ...
Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar …
The syndrome of infantile-onset saccade initiation delay.
Salman MS, Ikeda KM. Salman MS, et al. Can J Neurol Sci. 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. Can J Neurol Sci. 2013. PMID: 23419574 Review.
Whenever possible, patients were excluded if they had acquired SID, Joubert syndrome or neurodegenerative conditions. The minimum prevalence was calculated for each abnormality. ...
Whenever possible, patients were excluded if they had acquired SID, Joubert syndrome or neurodegenerative conditions. The mini …
Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.
van Dorp DB, Palan A, Kwee ML, Barth PG, van der Harten JJ. van Dorp DB, et al. Am J Med Genet. 1991 Jul 1;40(1):100-4. doi: 10.1002/ajmg.1320400121. Am J Med Genet. 1991. PMID: 1887836 Review.
A severely retarded male child with Joubert syndrome is described. He had severe neurological anomalies including Dandy-Walker malformation, hypoplasia of the corpus callosum, occipital meningo-encephalocele, and bilateral coloboma of the optic nerve with retrobulba …
A severely retarded male child with Joubert syndrome is described. He had severe neurological anomalies including Dandy-Walker …
Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review.
Bolduc ME, Limperopoulos C. Bolduc ME, et al. Dev Med Child Neurol. 2009 Apr;51(4):256-67. doi: 10.1111/j.1469-8749.2008.03224.x. Epub 2009 Feb 3. Dev Med Child Neurol. 2009. PMID: 19191827 Free article. Review.
Overall, the data suggested that children with isolated inferior vermis hypoplasia (IVH) and mega cisterna magna (MCM) have a good developmental outcome, whereas children with molar tooth sign/Joubert syndrome, vermis hypoplasia, pontocerebellar hypoplasia (PCH) typ …
Overall, the data suggested that children with isolated inferior vermis hypoplasia (IVH) and mega cisterna magna (MCM) have a good developme …