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Ellis-van Creveld syndrome.
Baujat G, Le Merrer M. Baujat G, et al. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. ...EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially t
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
Ruiz-Perez VL, Goodship JA. Ruiz-Perez VL, et al. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi: 10.1002/ajmg.c.30226. Am J Med Genet C Semin Med Genet. 2009. PMID: 19876929 Review.
Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. ...Both Evc and Evc2 proteins locali
Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly,
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.
Thomas DC, Moorthy JD, Prabhakar V, Ajayakumar A, Pitchumani PK. Thomas DC, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):36-46. doi: 10.1002/ajmg.c.31969. Epub 2022 Apr 8. Am J Med Genet C Semin Med Genet. 2022. PMID: 35393766 Review.
Ellis-van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of EVC and EVC2 genes and classified as a ciliopathy. ...In this review, we give a summary of the mechanistic role of primary cilia in craniofacia
Ellis-van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of EVC
Skeletal ciliopathies: a pattern recognition approach.
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G. Handa A, et al. Jpn J Radiol. 2020 Mar;38(3):193-206. doi: 10.1007/s11604-020-00920-w. Epub 2020 Jan 21. Jpn J Radiol. 2020. PMID: 31965514 Review.
Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome, and short-rib polydactyly syndromes. ...
Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Sensenbr …
Syndromes with supernumerary teeth.
Lubinsky M, Kantaputra PN. Lubinsky M, et al. Am J Med Genet A. 2016 Oct;170(10):2611-6. doi: 10.1002/ajmg.a.37763. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250821 Review.
We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculo …
We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; tric …
Thoracic Insufficiency Syndrome.
Mayer O, Campbell R, Cahill P, Redding G. Mayer O, et al. Curr Probl Pediatr Adolesc Health Care. 2016 Mar;46(3):72-97. doi: 10.1016/j.cppeds.2015.11.001. Epub 2015 Dec 30. Curr Probl Pediatr Adolesc Health Care. 2016. PMID: 26747620 Review.
Thoracic insufficiency syndrome (TIS) is a broad grouping of disorders that have a substantial impact on the chest wall, spine, and in many situations, both. ...
Thoracic insufficiency syndrome (TIS) is a broad grouping of disorders that have a substantial impact on the chest wall, spine, and i …
Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V. Huber C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791528 Review.
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and short rib-polydactyly type III. Indeed, primary cilia play a vital role in transduction of …
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skele …
The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert …
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, …
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 th …
Moreover, dental phenotypes are observed in ciliopathies, including Bardet-Biedl syndrome, Ellis-van Creveld
Ellis-van Creveld syndrome. Case report and literature review.
Alves-Pereira D, Berini-Aytés L, Gay-Escoda C. Alves-Pereira D, et al. Med Oral Patol Oral Cir Bucal. 2009 Jul 1;14(7):E340-3. Med Oral Patol Oral Cir Bucal. 2009. PMID: 19300361 Free article. Review.
Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. ...The disease can be diagnosed at any age, even during pregnancy. The differentiation should be made between
Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon v
49 results