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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
2023 0

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24 results

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Page 1
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. ...The clinical hallmarks comprise thoracic hypoplasia with respiratory failure, …
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 …
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 of human DYNC1H1 are associated with malformations of cortical development (MCD) or spinal muscular atrophy with lower extremity predominance (SMA-LED). Missense mutations in DYNC2H1 are causative of short-rib polydactyly syndrome ty …
Missense mutations of human DYNC1H1 are associated with malformations of cortical development (MCD) or spinal muscular atrophy with lower ex …
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. ...After birth, cardinal features are short stature, short ribs, polydacty …
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growt …
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 …
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 …
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 …
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 …
Clinical aspects of defects in the determination of laterality.
Aylsworth AS. Aylsworth AS. Am J Med Genet. 2001 Jul 15;101(4):345-55. Am J Med Genet. 2001. PMID: 11471158 Review.
Occasionally, individuals have a complete, mirror-image reversal of this asymmetry called situs inversus, and 20-25% of those individuals have an autosomal recessive condition, Kartagener syndrome, with ciliary dyskinesia, bronchiectasis, sinusitis, and infertility. ...Hum …
Occasionally, individuals have a complete, mirror-image reversal of this asymmetry called situs inversus, and 20-25% of those individuals ha …
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Lin AE, et al. Am J Med Genet A. 2013 Nov;161A(11):2762-76. doi: 10.1002/ajmg.a.36265. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24123776 Review.
We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy-Jeune syndrome (ATD-JS) and other ciliopathies. Our analyses showed that the high anterior hairline, forehead bossing and dolichocephaly (accompanied by sagittal craniosynostosis in more than half …
We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy-Jeune syndrome (ATD-JS) and other ciliopathies. Our anal …
24 results