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
2011 1
2014 2
2015 1
2017 2
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M. Niceta M, et al. BMC Pediatr. 2020 Mar 12;20(1):120. doi: 10.1186/s12887-020-2019-0. BMC Pediatr. 2020. PMID: 32164589 Free PMC article. Review.
BACKGROUND: Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. ...CASE PRESENTATION: A 7 year-old male was enrolled in a dedicated "Undiagnosed Patients Program" for a peculiar form of Joubert s …
BACKGROUND: Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. . …
[Report of a case with Joubert syndrome and literature review].
Yi YH, Li G, Lu ZL, Zhou JS, Yao ZW, Wang PF, Yao JX. Yi YH, et al. Zhonghua Er Ke Za Zhi. 2011 Dec;49(12):939-42. Zhonghua Er Ke Za Zhi. 2011. PMID: 22336363 Review. Chinese.
OBJECTIVE: To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). METHOD: The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. ...The typical ima …
OBJECTIVE: To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). METHOD: The clinical …
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 …
[Genetic complexity of ciliopathies and novel genes identification].
Bachmann-Gagescu R. Bachmann-Gagescu R. Med Sci (Paris). 2014 Nov;30(11):1011-23. doi: 10.1051/medsci/20143011016. Epub 2014 Nov 10. Med Sci (Paris). 2014. PMID: 25388584 Free article. Review. French.
The current review provides an updated snapshot of this complex evolving field, highlighting the key phenotypic features and causative genes for commonly-studied ciliopathies and summarizing our emerging understanding of the correlations between the functions of subgroups of gene …
The current review provides an updated snapshot of this complex evolving field, highlighting the key phenotypic features and causative genes …
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C. Bruechle NO, et al. Pediatr Nephrol. 2017 Oct;32(10):1989-1992. doi: 10.1007/s00467-017-3710-8. Epub 2017 Jun 15. Pediatr Nephrol. 2017. PMID: 28620746 Review.
It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital ence …
It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndro …