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Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
Nephronophthisis-associated ciliopathies.
Hildebrandt F, Zhou W. Hildebrandt F, et al. J Am Soc Nephrol. 2007 Jun;18(6):1855-71. doi: 10.1681/ASN.2006121344. Epub 2007 May 18. J Am Soc Nephrol. 2007. PMID: 17513324 Review.
NPHP can be associated with retinitis pigmentosa (Senior-Loken syndrome), liver fibrosis, and cerebellar vermis aplasia (Joubert syndrome) in approximately 10% of patients. Positional cloning of six novel genes (NPHP1 through 6) as mutated in NPHP and functional cha …
NPHP can be associated with retinitis pigmentosa (Senior-Loken syndrome), liver fibrosis, and cerebellar vermis aplasia (Joubert s …
Sleep in Children with Congenital Malformations of the Central Nervous System.
Yates JF, Troester MM, Ingram DG. Yates JF, et al. Curr Neurol Neurosci Rep. 2018 May 23;18(7):38. doi: 10.1007/s11910-018-0850-6. Curr Neurol Neurosci Rep. 2018. PMID: 29789951 Review.
RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, …
RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CN …
Cerebellar development and disease.
Millen KJ, Gleeson JG. Millen KJ, et al. Curr Opin Neurobiol. 2008 Feb;18(1):12-9. doi: 10.1016/j.conb.2008.05.010. Epub 2008 May 29. Curr Opin Neurobiol. 2008. PMID: 18513948 Free PMC article. Review.
Indeed, several genes for congenital human cerebellar malformations have recently been identified, including genes causing Joubert syndrome, Dandy-Walker malformation, and pontocerebellar hypoplasia. ...
Indeed, several genes for congenital human cerebellar malformations have recently been identified, including genes causing Joubert …
[Report of a case with Joubert syndrome and literature review].
Yi YH, Li G, Lu ZL, Zhou JS, Yao ZW, Wang PF, Yao JX. Yi YH, et al. Zhonghua Er Ke Za Zhi. 2011 Dec;49(12):939-42. Zhonghua Er Ke Za Zhi. 2011. PMID: 22336363 Review. Chinese.
RESULT: The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases ( …
RESULT: The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients …
Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies.
Conduit SE, Dyson JM, Mitchell CA. Conduit SE, et al. FEBS Lett. 2012 Aug 31;586(18):2846-57. doi: 10.1016/j.febslet.2012.07.037. Epub 2012 Jul 22. FEBS Lett. 2012. PMID: 22828281 Free article. Review.
Here, we review recent studies that identify a new role for these enzymes in the regulation of primary cilia function. Joubert syndrome has been extensively linked to primary cilia defects, and Lowe's may represent a new class of 'ciliopathy associated' syndromes... …
Here, we review recent studies that identify a new role for these enzymes in the regulation of primary cilia function. Joubert syn …
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. The presence of other ciliopathies worsens the prognosis. Joubert syndrome (JS) is a ciliopathy associated wi …
INTRODUCTION: Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbidity and high i …