Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2011 1
2015 1
2017 2
2020 2
2021 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Joubert syndrome 35"
Page 1
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A, Naushad SM, Lingappa L. Radha Rama Devi A, et al. Pediatr Neurol. 2020 May;106:43-49. doi: 10.1016/j.pediatrneurol.2020.01.012. Epub 2020 Feb 4. Pediatr Neurol. 2020. PMID: 32139166
We present a large cohort of 59 patients with Joubert syndrome from 55 families. Molecular analysis was performed in 35 families (trio). ...For the first time, we identified a ciliopathy gene, CCDC28B, as a causal gene in Joubert syndrome in one …
We present a large cohort of 59 patients with Joubert syndrome from 55 families. Molecular analysis was performed in 35 …
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.
Fei H, Wu Y, Wang Y, Zhang J. Fei H, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1877. doi: 10.1002/mgg3.1877. Epub 2022 Jan 29. Mol Genet Genomic Med. 2022. PMID: 35092359 Free PMC article.
BACKGROUND: Joubert syndrome (JS) is a genetically heterogeneous disorder; its genetic etiology involves more than 35 genes, and a limited number of studies have investigated the pathogenic mechanism of variants in patients with JS. ...Furthermore, we perform …
BACKGROUND: Joubert syndrome (JS) is a genetically heterogeneous disorder; its genetic etiology involves more than 35 g …
Self-reported sleep and breathing disturbances in Joubert syndrome.
Kamdar BB, Nandkumar P, Krishnan V, Gamaldo CE, Collop NA. Kamdar BB, et al. Pediatr Neurol. 2011 Dec;45(6):395-9. doi: 10.1016/j.pediatrneurol.2011.09.005. Pediatr Neurol. 2011. PMID: 22115003
Six of 14 (43%) Pediatric Sleep Questionnaire responders had scores suggestive of sleep-related breathing disorder. These results suggest that episodic tachypnea, apnea, snoring, and Pediatric Sleep Questionnaire scores suggestive of sleep-related breathing disorder …
Six of 14 (43%) Pediatric Sleep Questionnaire responders had scores suggestive of sleep-related breathing disorder. These results sug …
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 …
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium; Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Srour M, et al. Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17. Am J Hum Genet. 2015. PMID: 26477546 Free PMC article.
Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. ...Our study also reveals that the cause of JBTS h …
Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebella …
Ophthalmic features of Joubert syndrome.
Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA. Khan AO, et al. Ophthalmology. 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005. Ophthalmology. 2008. PMID: 19041481
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis. ...The objective of the current study is to describe the ophthalmic phenotype in a cohort of patients …
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation o …
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D. Van De Weghe JC, et al. Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15. Am J Hum Genet. 2017. PMID: 28625504 Free PMC article.
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. ...Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as …
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, a …
CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
Chang CH, Chen TY, Lu IL, Li RB, Tsai JJ, Lin PY, Tang TK. Chang CH, et al. Genes Dev. 2021 Nov 1;35(21-22):1445-1460. doi: 10.1101/gad.348636.121. Epub 2021 Oct 28. Genes Dev. 2021. PMID: 34711653 Free PMC article.
Joubert syndrome (JS) is a recessive ciliopathy in which all affected individuals have congenital cerebellar vermis hypoplasia. ...Together, our data reveal a close interplay between CEP120 and KIAA0753 for the germinal zone exit and timely neuronal differentiation …
Joubert syndrome (JS) is a recessive ciliopathy in which all affected individuals have congenital cerebellar vermis hypoplasia …
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 …