Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 2 |
2020 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Ciliary Genes in Renal Cystic Diseases.
Cells. 2020 Apr 8;9(4):907. doi: 10.3390/cells9040907.
Cells. 2020.
PMID: 32276433
Free PMC article.
Review.
., encoding polycystins, nephrocystins, Bardet-Biedl syndrome (BBS) proteins, ALS1, Oral-facial-digital syndrome 1 (OFD1) and others) in polycystic kidney disease and nephronophthisis, as well as rare genetic disorders, including syndromes of Joubert, Meckel-Gruber, Bardet …
., encoding polycystins, nephrocystins, Bardet-Biedl syndrome (BBS) proteins, ALS1, Oral-facial-digital syndrome 1 (OFD1) and others) …
Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature.
Li L, Liu C, Tian M, Li G, Li J.
Li L, et al.
BMC Pediatr. 2023 Aug 18;23(1):407. doi: 10.1186/s12887-023-04110-1.
BMC Pediatr. 2023.
PMID: 37596520
Free PMC article.
Review.
BACKGROUND: WDR35 variants are known to cause a rare autosomal recessive disorder-Cranioectodermal dysplasia (CED). The CED patients are commonly present with facial dysmorphisms (frontal bossing and low-set ears), sagittal craniosynostosis, growth retardation, doli …
BACKGROUND: WDR35 variants are known to cause a rare autosomal recessive disorder-Cranioectodermal dysplasia (CED). The CED pa …
Item in Clipboard
Role of Primary Cilia in Odontogenesis.
Hampl M, Cela P, Szabo-Rogers HL, Kunova Bosakova M, Dosedelova H, Krejci P, Buchtova M.
Hampl M, et al.
J Dent Res. 2017 Aug;96(9):965-974. doi: 10.1177/0022034517713688. Epub 2017 Jun 12.
J Dent Res. 2017.
PMID: 28605602
Free PMC article.
Review.
Moreover, dental phenotypes are observed in ciliopathies, including Bardet-Biedl syndrome, Ellis-van Creveld syndrome, Weyers acrofacial dysostosis, cranioectodermal dysplasia, and oral-facial-digital syndrome, altogether demonstrating that primary cilia play a crit …
Moreover, dental phenotypes are observed in ciliopathies, including Bardet-Biedl syndrome, Ellis-van Creveld syndrome, Weyers acrofacial dys …
Item in Clipboard
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
Antony D, Nampoory N, Bacchelli C, Melhem M, Wu K, James CT, Beales PL, Hubank M, Thomas D, Mashankar A, Behbehani K, Schmidts M, Alsmadi O.
Antony D, et al.
Eur J Med Genet. 2017 Dec;60(12):658-666. doi: 10.1016/j.ejmg.2017.08.019. Epub 2017 Sep 12.
Eur J Med Genet. 2017.
PMID: 28870638
Review.
Item in Clipboard
Cite
Cite