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Page 1
Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.
Doherty D, Millen KJ, Barkovich AJ. Doherty D, et al. Lancet Neurol. 2013 Apr;12(4):381-93. doi: 10.1016/S1474-4422(13)70024-3. Epub 2013 Mar 18. Lancet Neurol. 2013. PMID: 23518331 Free PMC article. Review.
Historically, the midbrain and hindbrain have been considered of secondary importance to the cerebrum, which has typically been acknowledged as the most important part of the brain. ...With recent developments in neuroimaging, neuropathology, and neurogenetics, many …
Historically, the midbrain and hindbrain have been considered of secondary importance to the cerebrum, which has typically bee …
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on br …
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes …
Analysis of SNHG14: A Long Non-Coding RNA Hosting SNORD116, Whose Loss Contributes to Prader-Willi Syndrome Etiology.
Ariyanfar S, Good DJ. Ariyanfar S, et al. Genes (Basel). 2022 Dec 29;14(1):97. doi: 10.3390/genes14010097. Genes (Basel). 2022. PMID: 36672838 Free PMC article. Review.
Large deletions of the SNHG14 locus, as well as microdeletions of the SNORD116 locus, lead to the neurodevelopmental genetic disorder Prader-Willi syndrome. This review will focus on the SNHG14 gene, its expression patterns, its role in human cancer, and the possibi …
Large deletions of the SNHG14 locus, as well as microdeletions of the SNORD116 locus, lead to the neurodevelopmental genetic disor
Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.
Goulart LC, Ferreira-Filho LA, da Silva MM, Carneiro ISB, Carneiro SS, Vilela-Filho O. Goulart LC, et al. Childs Nerv Syst. 2021 Oct;37(10):3257-3260. doi: 10.1007/s00381-020-04989-6. Epub 2021 Jan 6. Childs Nerv Syst. 2021. PMID: 33404715 Review.
INTRODUCTION: Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbidity and high infant mortality. ...Joubert syndrome (JS) is a ciliopathy associated with gene mutations, consisting of midbrain and ce …
INTRODUCTION: Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbid …
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M. Niceta M, et al. BMC Pediatr. 2020 Mar 12;20(1):120. doi: 10.1186/s12887-020-2019-0. BMC Pediatr. 2020. PMID: 32164589 Free PMC article. Review.
BACKGROUND: Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive impairment and …
BACKGROUND: Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. C …
Cerebellar and brainstem development: an overview in relation to Joubert syndrome.
Yachnis AT, Rorke LB. Yachnis AT, et al. J Child Neurol. 1999 Sep;14(9):570-3. doi: 10.1177/088307389901400904. J Child Neurol. 1999. PMID: 10488901 Review.
Two aspects of cerebellar development might be important in the pathogenesis of Joubert syndrome: First, cerebellar development is regulated by a critical region of the embryo called the "midbrain-hindbrain organizer," and both mesencephalic and metencephalic elemen …
Two aspects of cerebellar development might be important in the pathogenesis of Joubert syndrome: First, cerebellar development is regulated …
[A neurologic model of early infantile autism].
Segawa M. Segawa M. No To Hattatsu. 1989 Mar;21(2):170-80. No To Hattatsu. 1989. PMID: 2653385 Review. Japanese.
Based on the abnormalities in sleep-wakefulness cycle of early infantile autism, the author discussed its pathophysiology focusing on its main lesion in the raphe nuclei. ...
Based on the abnormalities in sleep-wakefulness cycle of early infantile autism, the author discussed its pathophysiology focusing on …
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A, Babaei M, Saberi M, Golchin N, Khalil Nejad Sani Banaei A, Eshaghkhani Y, Golchehre Z, Keramatipour M. Karamzade A, et al. Mol Biol Rep. 2021 Jun;48(6):5339-5345. doi: 10.1007/s11033-021-06508-5. Epub 2021 Jun 30. Mol Biol Rep. 2021. PMID: 34191236 Review.
Joubert syndrome (JS) is a rare inherited neurodevelopmental condition characterized by hypotonia, ataxia, developmental delay, abnormal eye movements, neonatal respiratory disturbance and unique midbrain-hindbrain malformation, known as the molar toot …
Joubert syndrome (JS) is a rare inherited neurodevelopmental condition characterized by hypotonia, ataxia, developmental delay, abnor …