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Quoted phrase not found in phrase index: "Joubert syndrome 30"
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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. ...Phenotypic analysis revea …
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive imp …
TOPORS as a novel causal gene for Joubert syndrome.
Strong A, Qu HQ, Cullina S, McManus ML, Zackai EH, Glessner J, Kenny EE, Hakonarson H. Strong A, et al. Am J Med Genet A. 2023 Aug;191(8):2156-2163. doi: 10.1002/ajmg.a.63303. Epub 2023 May 25. Am J Med Genet A. 2023. PMID: 37227088
Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmental delay, and a distinct cerebellar malformation called the molar tooth sign. ...Though over 40 genes have been identified as causal for JBTS …
Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmenta …
Characteristics and Outcomes of Idiopathic and Non-idiopathic Ocular Motor Apraxia in Children.
Chang MY, Grosrenaud P, Borchert MS. Chang MY, et al. J Pediatr Ophthalmol Strabismus. 2022 Sep-Oct;59(5):326-331. doi: 10.3928/01913913-20220106-01. Epub 2022 Feb 22. J Pediatr Ophthalmol Strabismus. 2022. PMID: 35192381 Free PMC article.
RESULTS: Thirty-seven children were included, 17 (46%) with idiopathic OMA and 20 (54%) with non-idiopathic OMA. Among patients with non-idiopathic OMA, Joubert syndrome was the most frequent underlying diagnosis (30%). Strabismus (45% vs 12%, P = .04), nysta …
RESULTS: Thirty-seven children were included, 17 (46%) with idiopathic OMA and 20 (54%) with non-idiopathic OMA. Among patients with non-idi …
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.
Bergmann C. Bergmann C. Pediatr Nephrol. 2015 Jan;30(1):15-30. doi: 10.1007/s00467-013-2706-2. Epub 2014 Mar 1. Pediatr Nephrol. 2015. PMID: 24584572 Free PMC article. Review.
Several phenocopies are known, and mutations in HNF1ss or genes that typically cause other ciliopathies, such as nephronophthisis, Bardet-Biedl, Joubert syndrome and related disorders, can mimic PKD. An accurate genetic diagnosis is crucial for genetic counseling, p …
Several phenocopies are known, and mutations in HNF1ss or genes that typically cause other ciliopathies, such as nephronophthisis, Bardet-Bi …
Defective ciliogenesis in INPP5E-related Joubert syndrome.
Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV. Hardee I, et al. Am J Med Genet A. 2017 Dec;173(12):3231-3237. doi: 10.1002/ajmg.a.38376. Epub 2017 Oct 20. Am J Med Genet A. 2017. PMID: 29052317 Free PMC article.
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. ...In addition, a subset of patients has retinal dystrophy, ch …
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the patho …
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M. Brooks BP, et al. Ophthalmology. 2018 Dec;125(12):1937-1952. doi: 10.1016/j.ophtha.2018.05.026. Epub 2018 Jul 25. Ophthalmology. 2018. PMID: 30055837 Free PMC article.
PURPOSE: Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) cilia and the cilium basal body. ...Strabismus (71/98), nystagmus (66/99), oculomotor apraxia (60/77), ptosis (30/98), coloboma (28/99 …
PURPOSE: Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) c …
Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.
Aleman TS, O'Neil EC, Uyhazi KE, Parchinski KM, Santos AJ, Weber ML, Colclough SP, Billek AS, Zhu X, Leroy BP, Bedoukian EC. Aleman TS, et al. Ophthalmic Genet. 2022 Dec;43(6):824-833. doi: 10.1080/13816810.2022.2147960. Epub 2022 Dec 5. Ophthalmic Genet. 2022. PMID: 36469661
PURPOSE: To provide a detailed ophthalmic phenotype of a small cohort of patients with Leber Congenital Amaurosis (LCA) caused by mutations in CEP290 (CEP290-LCA) with a focus on elucidating the origin of yellow-white lesions observed in 30% of patients with this condition …
PURPOSE: To provide a detailed ophthalmic phenotype of a small cohort of patients with Leber Congenital Amaurosis (LCA) caused by mutations …
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. ...Cognitive development showed four with development quotient (DQ) of 30 or less and nine with DQ of 60-85, the others could not be …
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. To date, more than 30 JS genes have been …
PURPOSE: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar a …
27 results