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
2009 1
2010 1
2018 2
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

4 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Joubert syndrome 28"
Page 1
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. ...DESIGN: Patients were systematically and prospectively examined at the National Institutes of Health (NIH …
PURPOSE: Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) c …
Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects.
Seo H, Kwon EJ, You YA, Park Y, Min BJ, Yoo K, Hwang HS, Kim JH, Kim YJ. Seo H, et al. BMC Med Genomics. 2018 Jan 24;11(1):4. doi: 10.1186/s12920-018-0323-4. BMC Med Genomics. 2018. PMID: 29368655 Free PMC article.
To assess the impact of distributed rare variants in cases with side effects, we carried out rare variant association tests with a minor allele frequency 1% using the burden test, the sequence Kernel association test (SKAT), and optimised SKAT. RESULTS: We identified 28 ge …
To assess the impact of distributed rare variants in cases with side effects, we carried out rare variant association tests with a minor all …
Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.
Saleem SN, Zaki MS. Saleem SN, et al. AJNR Am J Neuroradiol. 2010 Mar;31(3):424-9. doi: 10.3174/ajnr.A1867. Epub 2009 Nov 26. AJNR Am J Neuroradiol. 2010. PMID: 19942698 Free PMC article. Clinical Trial.
We correlated prenatal MR imaging findings with postnatal MR imaging and clinical outcome. Retrospectively, we compared posterior fossa measurements of the cases with those of 24 age-matched fetuses with proved normal brain MR imaging. ...Statistical methods included a t t …
We correlated prenatal MR imaging findings with postnatal MR imaging and clinical outcome. Retrospectively, we compared posterior fos …