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

Year Number of Results
1991 2
1993 1
1994 3
1995 1
1996 1
2000 1
2001 3
2004 1
2007 1
2008 1
2011 1
2012 2
2013 2
2017 1
2020 1
2021 3
2024 0

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24 results

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Page 1
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. ...Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromos …
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growt …
Recurrent short rib polydactyly syndrome.
Eleftheriades M, Iavazzo C, Manolakos E, Hassiakos D, Botsis D, Petersen M, Konstantinidou A. Eleftheriades M, et al. J Obstet Gynaecol. 2013 Jan;33(1):14-6. doi: 10.3109/01443615.2012.698334. J Obstet Gynaecol. 2013. PMID: 23259870 Review.
We present three consecutive cases of skeletal dysplasias of a non-consanguineous couple with five pregnancies. The diagnosis of short-rib polydactyly syndrome (SRPS) was feasible by ultrasound during the 1st trimester of pregnancy. SRPS represents a h …
We present three consecutive cases of skeletal dysplasias of a non-consanguineous couple with five pregnancies. The diagnosis of short …
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. These disorders share common clinical and radiological features. The clinical ha …
Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome …
Ciliary Dyneins and Dynein Related Ciliopathies.
Antony D, Brunner HG, Schmidts M. Antony D, et al. Cells. 2021 Jul 25;10(8):1885. doi: 10.3390/cells10081885. Cells. 2021. PMID: 34440654 Free PMC article. Review.
Despite a partially shared evolutionary developmental path and shared ciliary localization, the cytoplasmic dynein-2 and axonemal dynein functions are markedly different: while cytoplasmic dynein-2 complex dysfunction results in an ultra-rare syndromal skeleto-renal phenotype wit …
Despite a partially shared evolutionary developmental path and shared ciliary localization, the cytoplasmic dynein-2 and axonemal dynein fun …
The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes.
Loo CKC, Pearen MA, Ramm GA. Loo CKC, et al. Int J Mol Sci. 2021 Sep 12;22(18):9854. doi: 10.3390/ijms22189854. Int J Mol Sci. 2021. PMID: 34576017 Free PMC article. Review.
The possible role of SHH will be considered using examples of holoprosencephaly and short-rib polydactyly (SRP) syndromes. In these syndromes, there is wide variability in phenotype even with the same genetic mutation, so that other factors must influence the …
The possible role of SHH will be considered using examples of holoprosencephaly and short-rib polydactyly (SRP) syndrom …
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 ro …
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skele …
Review: Cytoplasmic dynein motors in photoreceptors.
Dahl TM, Baehr W. Dahl TM, et al. Mol Vis. 2021 Sep 1;27:506-517. eCollection 2021. Mol Vis. 2021. PMID: 34526758 Free PMC article. Review.
Missense mutations in DYNC2H1 are causative of short-rib polydactyly syndrome type III and nonsyndromic retinitis pigmentosa. We review mutations of the two dynein heavy chains and their effect on postnatal retina development and discuss consequences o …
Missense mutations in DYNC2H1 are causative of short-rib polydactyly syndrome type III and nonsyndromic retiniti …
Educational paper: ciliopathies.
Bergmann C. Bergmann C. Eur J Pediatr. 2012 Sep;171(9):1285-300. doi: 10.1007/s00431-011-1553-z. Epub 2011 Sep 7. Eur J Pediatr. 2012. PMID: 21898032 Free PMC article. Review.
Frequent cilia-related manifestations are (poly)cystic kidney disease, retinal degeneration, situs inversus, cardiac defects, polydactyly, other skeletal abnormalities, and defects of the central and peripheral nervous system, occurring either isolated or as part of syndro …
Frequent cilia-related manifestations are (poly)cystic kidney disease, retinal degeneration, situs inversus, cardiac defects, polydactyly …
Glomerulocystic kidney disease--nosological considerations.
Bernstein J. Bernstein J. Pediatr Nephrol. 1993 Aug;7(4):464-70. doi: 10.1007/BF00857576. Pediatr Nephrol. 1993. PMID: 8398663 Review.
The second category includes glomerulocystic kidneys as major components of heritable syndromes such as tuberous sclerosis, orofaciodigital syndrome, brachymesomelia-renal syndrome, trisomy 13, and the short rib-polydactyly syndromes. The catego …
The second category includes glomerulocystic kidneys as major components of heritable syndromes such as tuberous sclerosis, orofaciodigital …
Short rib syndrome--Beemer type in sibs.
Hennekam RC. Hennekam RC. Am J Med Genet. 1991 Aug 1;40(2):230-3. doi: 10.1002/ajmg.1320400221. Am J Med Genet. 1991. PMID: 1897578 Review.
The short rib (polydactyly) syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically by short limbs, median cleft upper lip and palate, narrow thorax, and protuberant abdomen, and radiologically by short ribs, …
The short rib (polydactyly) syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically …
24 results