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1993 10
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2000 10
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2002 12
2003 6
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356 results

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Quoted phrase not found in phrase index: "Holoprosencephaly-postaxial polydactyly syndrome"
Page 1
Bardet-Biedl syndrome.
Forsythe E, Beales PL. Forsythe E, et al. Eur J Hum Genet. 2013 Jan;21(1):8-13. doi: 10.1038/ejhg.2012.115. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713813 Free PMC article.
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. ...
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polyd …
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. ...Retinal disease is present in 30 …
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment …
Preaxial polydactyly of the foot.
Burger EB, Baas M, Hovius SER, Hoogeboom AJM, van Nieuwenhoven CA. Burger EB, et al. Acta Orthop. 2018 Feb;89(1):113-118. doi: 10.1080/17453674.2017.1383097. Epub 2017 Sep 26. Acta Orthop. 2018. PMID: 28946786 Free PMC article. Review.
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. ...Clinical cases were obtained from our hospital database and were reviewed in terms of phenotype, …
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associa …
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 phenot …
Despite a partially shared evolutionary developmental path and shared ciliary localization, the cytoplasmic dynein-2 and axonemal dynein fun …
Meckel syndrome.
Salonen R, Paavola P. Salonen R, et al. J Med Genet. 1998 Jun;35(6):497-501. doi: 10.1136/jmg.35.6.497. J Med Genet. 1998. PMID: 9643292 Free PMC article. Review.
Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases. ...The linkage studies prov …
Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, …
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, body d …
Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome …
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. ...Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman …
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retar …
Brachydactyly.
Temtamy SA, Aglan MS. Temtamy SA, et al. Orphanet J Rare Dis. 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. Orphanet J Rare Dis. 2008. PMID: 18554391 Free PMC article. Review.
Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. ...Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, pol …
Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different f …
Polydactyly: phenotypes, genetics and classification.
Malik S. Malik S. Clin Genet. 2014 Mar;85(3):203-12. doi: 10.1111/cge.12276. Epub 2013 Oct 18. Clin Genet. 2014. PMID: 24020795 Review.
There is a plethora of polydactyly classification methods reported in the medical literature which approach the heterogeneity in polydactyly in various ways. In this communication, well-characterized, non-syndromic polydactylies in humans are reviewed. …
There is a plethora of polydactyly classification methods reported in the medical literature which approach the heterogeneity in p …
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 transduc …
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skele …
356 results