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Quoted phrase not found in phrase index: "Joubert syndrome 27"
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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. ...Variant pathogenicity was …
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive imp …
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.
Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, …
Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib …
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. ...The most common clinical presentation among mutated families (7/11, 64%) wa …
Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar mid …
Prenatal diagnosis of Joubert syndrome: A case report and literature review.
Zhu L, Xie L. Zhu L, et al. Medicine (Baltimore). 2017 Dec;96(51):e8626. doi: 10.1097/MD.0000000000008626. Medicine (Baltimore). 2017. PMID: 29390414 Free PMC article.
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. ...After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnorma …
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative …
Arl13b and the exocyst interact synergistically in ciliogenesis.
Seixas C, Choi SY, Polgar N, Umberger NL, East MP, Zuo X, Moreiras H, Ghossoub R, Benmerah A, Kahn RA, Fogelgren B, Caspary T, Lipschutz JH, Barral DC. Seixas C, et al. Mol Biol Cell. 2016 Jan 15;27(2):308-20. doi: 10.1091/mbc.E15-02-0061. Epub 2015 Nov 18. Mol Biol Cell. 2016. PMID: 26582389 Free PMC article.
Arl13b belongs to the ADP-ribosylation factor family within the Ras superfamily of regulatory GTPases. Mutations in Arl13b cause Joubert syndrome, which is characterized by congenital cerebellar ataxia, hypotonia, oculomotor apraxia, and mental retardation. ...Throu …
Arl13b belongs to the ADP-ribosylation factor family within the Ras superfamily of regulatory GTPases. Mutations in Arl13b cause Joubert …
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 …
Joubert syndrome presenting bilateral peroneal neuropathies: A case report.
Kim HM, Jo HS, Han JY, Choi IS, Song MK, Park HK. Kim HM, et al. Medicine (Baltimore). 2024 Apr 26;103(17):e37987. doi: 10.1097/MD.0000000000037987. Medicine (Baltimore). 2024. PMID: 38669389 Free PMC article.
RATIONALE: Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. ...The patient exhibited difficulty maintaining balance, especially when walking slowly. Oculomotor …
RATIONALE: Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involv …
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. ...A subset of patients was followed-up over time. RESULTS: At last examination, 27 of 93 subjects (29%) presen …
BACKGROUND: Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain-hindbrain malformation and mu …