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Quoted phrase not found in phrase index: "Joubert syndrome 24"
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Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A. Simonini C, et al. Arch Gynecol Obstet. 2022 Jul;306(1):71-83. doi: 10.1007/s00404-021-06265-7. Epub 2021 Oct 1. Arch Gynecol Obstet. 2022. PMID: 34596737 Free PMC article.
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as …
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrosp …
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.
Zhang X, Shen Y, Li P, Cai R, Lu C, Li Q, Chen C, Yu Y, Cheng T, Wang X, Luo M, Cao M, Cao Z, Ma X. Zhang X, et al. Mol Genet Genomic Med. 2021 Jun;9(6):e1682. doi: 10.1002/mgg3.1682. Epub 2021 Apr 6. Mol Genet Genomic Med. 2021. PMID: 33822487 Free PMC article.
BACKGROUND: Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain-hindbrain malformations. ...However, the correlation between genotype and phenotype has not been elucidated due to the limited number of patients available. METHODS: In …
BACKGROUND: Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain-hindbrain malformations. ...H …
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 …
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
Leggatt G, Cheng G, Narain S, Briseño-Roa L, Annereau JP; Genomics England Research Consortium; Gast C, Gilbert RD, Ennis S. Leggatt G, et al. Sci Rep. 2023 Jun 9;13(1):9369. doi: 10.1038/s41598-023-32169-4. Sci Rep. 2023. PMID: 37296294 Free PMC article.
These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior-Loken syndrome) and neurological (Joubert syndrome) diseases. Nephronophthisis is a common cause of end-stage kidney disease (ESKD) in children and up to …
These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior-Loken syndrome) and neurolog …
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G. Kroes HY, et al. Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920555 Free PMC article.
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease prog …
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically he …
Ophthalmological findings in Joubert syndrome.
Sturm V, Leiba H, Menke MN, Valente EM, Poretti A, Landau K, Boltshauser E. Sturm V, et al. Eye (Lond). 2010 Feb;24(2):222-5. doi: 10.1038/eye.2009.116. Epub 2009 May 22. Eye (Lond). 2010. PMID: 19461662
PURPOSE: Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. ...In support of the earlier findings, decreased smooth pursuit and VOR cancellation, as well as partial-to-complete oculomotor apraxia seem to be the …
PURPOSE: Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. ...In suppo …
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
Wente S, Schröder S, Buckard J, Büttel HM, von Deimling F, Diener W, Häussler M, Hübschle S, Kinder S, Kurlemann G, Kretzschmar C, Lingen M, Maroske W, Mundt D, Sánchez-Albisua I, Seeger J, Toelle SP, Boltshauser E, Brockmann K. Wente S, et al. Orphanet J Rare Dis. 2016 Jul 29;11(1):104. doi: 10.1186/s13023-016-0486-z. Orphanet J Rare Dis. 2016. PMID: 27473762 Free PMC article.
Re-evaluation of MRI data sets revealed a hitherto unrecognized molar tooth sign diagnostic for Joubert syndrome in 11 patients, neuroimaging features of Poretti-Boltshauser syndrome in one case and cerebral malformation suspicious of a tubulinopathy in another subj …
Re-evaluation of MRI data sets revealed a hitherto unrecognized molar tooth sign diagnostic for Joubert syndrome in 11 patient …
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.
Ruberto G, Parisi V, Bertone C, Signorini S, Antonini M, Valente EM, Manzoni F, Serpieri V, Fausto R, Quaranta L. Ruberto G, et al. Adv Ther. 2020 Sep;37(9):3827-3838. doi: 10.1007/s12325-020-01432-9. Epub 2020 Jul 15. Adv Ther. 2020. PMID: 32671685 Free PMC article.
INTRODUCTION: Joubert syndrome (JS) is an autosomal recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including congenital retinal dystrophy. ...In addition, since clinical trials should be p …
INTRODUCTION: Joubert syndrome (JS) is an autosomal recessive disorder characterized by a congenital malformation of the mid-h …
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K, Ellingford JM, Carmichael J, Brittain H, Toomes C, Inglehearn C, Johnson CA, Wheway G; Genomics England Research Consortium. Best S, et al. J Med Genet. 2022 Aug;59(8):737-747. doi: 10.1136/jmedgenet-2021-108065. Epub 2021 Oct 29. J Med Genet. 2022. PMID: 34716235 Free PMC article.
METHODS: Eighty-three prescreened probands were recruited to the 100,000 Genomes Project suspected to have congenital malformations caused by ciliopathies in the following disease categories: Bardet-Biedl syndrome (n=45), Joubert syndrome (n=14) and 'Rare Multisyste …
METHODS: Eighty-three prescreened probands were recruited to the 100,000 Genomes Project suspected to have congenital malformations caused b …