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Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". ...
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brai …
TALPID3 in Joubert syndrome and related ciliopathy disorders.
Fraser AM, Davey MG. Fraser AM, et al. Curr Opin Genet Dev. 2019 Jun;56:41-48. doi: 10.1016/j.gde.2019.06.010. Epub 2019 Jul 19. Curr Opin Genet Dev. 2019. PMID: 31326647 Review.
Cilia are an essential component of signal transduction during embryonic development and the loss of TALPID3 function in humans can cause both severe lethal and mild cilia-related developmental disorders known as 'ciliopathies' the most common being Joubert …
Cilia are an essential component of signal transduction during embryonic development and the loss of TALPID3 function in humans can cause bo …
Joubert syndrome and related disorders.
Valente EM, Dallapiccola B, Bertini E. Valente EM, et al. Handb Clin Neurol. 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. Handb Clin Neurol. 2013. PMID: 23622411 Review.
Joubert syndrome (JS) is a rare autosomal recessive condition characterized by a peculiar midbrain-hindbrain malformation, known as the molar tooth sign (MTS). ...This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys, a …
Joubert syndrome (JS) is a rare autosomal recessive condition characterized by a peculiar midbrain-hindbrain malformation, kno …
Joubert syndrome and related disorders.
Paprocka J, Jamroz E. Paprocka J, et al. Neurol Neurochir Pol. 2012 Jul-Aug;46(4):379-83. doi: 10.5114/ninp.2012.30457. Neurol Neurochir Pol. 2012. PMID: 23023437 Review.
The estimated frequency of Joubert syndrome in the United States is around 1 : 100 000. The term Joubert syndrome and related disorders (JSRD) has been recently coined to describe all disorders presenting with molar tooth sign on b …
The estimated frequency of Joubert syndrome in the United States is around 1 : 100 000. The term Joubert syndrome …
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 brain ima …
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomal …
[Ciliopathies].
Gerth-Kahlert C, Koller S. Gerth-Kahlert C, et al. Klin Monbl Augenheilkd. 2018 Mar;235(3):264-272. doi: 10.1055/a-0573-9199. Epub 2018 Mar 13. Klin Monbl Augenheilkd. 2018. PMID: 29534263 Review. German.
Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. ...The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most severe t …
Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. ...The photoreceptor connecting c …
Genotypes and phenotypes of Joubert syndrome and related disorders.
Valente EM, Brancati F, Dallapiccola B. Valente EM, et al. Eur J Med Genet. 2008 Jan-Feb;51(1):1-23. doi: 10.1016/j.ejmg.2007.11.003. Epub 2007 Nov 23. Eur J Med Genet. 2008. PMID: 18164675 Review.
Joubert syndrome is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. ...A group of pleiotropic conditions, termed "Joubert syndrome …
Joubert syndrome is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay and variable occurr …
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA. Parisi MA. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. Am J Med Genet C Semin Med Genet. 2009. PMID: 19876931 Free PMC article. Review.
Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/ …
Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital mal …
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
Andreu-Cervera A, Catala M, Schneider-Maunoury S. Andreu-Cervera A, et al. Neurobiol Dis. 2021 Mar;150:105236. doi: 10.1016/j.nbd.2020.105236. Epub 2020 Dec 28. Neurobiol Dis. 2021. PMID: 33383187 Free article. Review.
We also discuss the complexity of ciliopathies and their relationships with forebrain disorders such as holoprosencephaly or malformations of cortical development, and emphasize the need for a closer examination of forebrain defects in ciliopathies, not only through the le …
We also discuss the complexity of ciliopathies and their relationships with forebrain disorders such as holoprosencephaly or malforma …
Genetic basis of Joubert syndrome and related disorders of cerebellar development.
Louie CM, Gleeson JG. Louie CM, et al. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R235-42. doi: 10.1093/hmg/ddi264. Hum Mol Genet. 2005. PMID: 16244321 Review.
Over three decades have passed since Marie Joubert described the original proband for Joubert syndrome, a rare neurological disorder featuring absence of the cerebellar vermis (i.e. midline). ...These genes encode proteins with some share …
Over three decades have passed since Marie Joubert described the original proband for Joubert syndrome, a rare neurolog …
41 results