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Quoted phrase not found in phrase index: "Joubert syndrome 30"
Page 1
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M. Fleming LR, et al. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146704 Free PMC article.
BACKGROUND AND OBJECTIVES: Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. ...Patients with mutations in C5orf42 or KIAA0586 are less likely to develop kidney disease. Prenatal ultrasonography is a poor predictor of ki …
BACKGROUND AND OBJECTIVES: Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. ...Patient …
Follow-up in children with Joubert syndrome.
Steinlin M, Schmid M, Landau K, Boltshauser E. Steinlin M, et al. Neuropediatrics. 1997 Aug;28(4):204-11. doi: 10.1055/s-2007-973701. Neuropediatrics. 1997. PMID: 9309710
Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. ...Siblings did not show similar development and sex was not predicting outcome. The following oculomotor problems were seen: mystagm …
Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. …
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Malicdan MCV, Gahl WA, Gunay-Aygun M. Vilboux T, et al. Genet Med. 2017 Aug;19(8):875-882. doi: 10.1038/gim.2016.204. Epub 2017 Jan 26. Genet Med. 2017. PMID: 28125082 Free article.
PURPOSE: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. ...CONCLUSION: In JS, WES significantly increase …
PURPOSE: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar a …
Brain stem and cerebellar findings in Joubert syndrome.
Alorainy IA, Sabir S, Seidahmed MZ, Farooqu HA, Salih MA. Alorainy IA, et al. J Comput Assist Tomogr. 2006 Jan-Feb;30(1):116-21. doi: 10.1097/01.rct.0000191681.05473.13. J Comput Assist Tomogr. 2006. PMID: 16365585
Joubert syndrome is often missed clinically and radiologically if not enough attention is paid to its subtle and variable clinical presentation and the imaging findings in the posterior fossa. The purpose of this paper is to illustrate the brain stem and cerebellar …
Joubert syndrome is often missed clinically and radiologically if not enough attention is paid to its subtle and variable clin …
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F. Nuovo S, et al. Nephrol Dial Transplant. 2020 Jul 1;35(7):1195-1202. doi: 10.1093/ndt/gfy333. Nephrol Dial Transplant. 2020. PMID: 30403813 Free PMC article.
BACKGROUND: Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain-hindbrain malformation and multiorgan involvement. ...
BACKGROUND: Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain-hindbrain malformation and mu …
The incidence and spectrum of central nervous system malformations in newborns over a decade (2001-2010) in the Central Region of Saudi Arabia.
Hakami WS, Majeed-Saidan MA. Hakami WS, et al. Saudi Med J. 2011 Nov;32(11):1137-42. Saudi Med J. 2011. PMID: 22057601
Cerebellar and posterior fossa abnormalities were diagnosed in 44 (17.7%), Dandy-Walker syndrome in 15, and Joubert syndrome in 12. Prosencephalic pathology was seen in 39 (15.7%), commissural abnormalities in 29, while there was holoprosencephaly in 12. ...
Cerebellar and posterior fossa abnormalities were diagnosed in 44 (17.7%), Dandy-Walker syndrome in 15, and Joubert syndrome i …
Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome.
Wang L, Yang Y, Song J, Mao L, Wei X, Sun Y, Yang S, Mu F, Wang H, Niu Y. Wang L, et al. J Child Neurol. 2015 May;30(6):772-6. doi: 10.1177/0883073814535488. Epub 2014 May 21. J Child Neurol. 2015. PMID: 24850569
Joubert syndrome is a neurologic disorder with a pathognomonic "molar tooth sign" on brain imaging. The purpose of this study was to identify potential mutations in a Chinese patient with Joubert syndrome by targeted massively parallel sequencing. Taki …
Joubert syndrome is a neurologic disorder with a pathognomonic "molar tooth sign" on brain imaging. The purpose of this study …
NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared.
Lacquaniti A, Chirico V, Donato V, Briuglia S, Cernaro V, Gallizzi R, Salpietro CD, Buemi M. Lacquaniti A, et al. Ren Fail. 2012;34(4):495-8. doi: 10.3109/0886022X.2011.649677. Epub 2012 Jan 20. Ren Fail. 2012. PMID: 22260509
Joubert syndrome (JBTS) is a rare autosomal recessive disorder with an underestimated prevalence due to lack of recognition of clinical signs or failure to diagnose this pathology. ...We measured neutrophil gelatinase-associated lipocalin (NGAL), considered as an ex …
Joubert syndrome (JBTS) is a rare autosomal recessive disorder with an underestimated prevalence due to lack of recognition of …
Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing.
Abdelgadir E, Al Sahlawi M, Al Turki L, Khamees K, Ahmed W. Abdelgadir E, et al. Saudi J Kidney Dis Transpl. 2019 Jul-Aug;30(4):964-968. doi: 10.4103/1319-2442.265475. Saudi J Kidney Dis Transpl. 2019. PMID: 31464256
Magnetic resonance imaging of the brain showed "molar tooth sign." The clinical picture was consistent with Joubert syndrome (JS). Two of her siblings were subsequently found to have a similar condition. ...
Magnetic resonance imaging of the brain showed "molar tooth sign." The clinical picture was consistent with Joubert syndrome ( …