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194 results

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Page 1
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. Wade EM, et al. Among authors: robertson sp. Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28498505
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group. Robertson SP, et al. Nat Genet. 2003 Apr;33(4):487-91. doi: 10.1038/ng1119. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612583
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: robertson sp. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29. Nat Genet. 2004. PMID: 14991055
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Farrington-Rock C, et al. Among authors: robertson sp. Hum Mutat. 2006 Jul;27(7):705-10. doi: 10.1002/humu.20348. Hum Mutat. 2006. PMID: 16752402
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. Bicknell LS, et al. Among authors: robertson sp. J Med Genet. 2007 Feb;44(2):89-98. doi: 10.1136/jmg.2006.043687. Epub 2006 Jun 26. J Med Genet. 2007. PMID: 16801345 Free PMC article.
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illés T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D. Robertson SP, et al. Am J Med Genet A. 2006 Aug 15;140(16):1726-36. doi: 10.1002/ajmg.a.31322. Am J Med Genet A. 2006. PMID: 16835913
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP. van Roij MH, et al. Among authors: robertson sp. Am J Med Genet A. 2008 Sep 15;146A(18):2376-84. doi: 10.1002/ajmg.a.32482. Am J Med Genet A. 2008. PMID: 18698629
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP. Jenkins ZA, et al. Among authors: robertson sp. Nat Genet. 2009 Jan;41(1):95-100. doi: 10.1038/ng.270. Epub 2008 Dec 14. Nat Genet. 2009. PMID: 19079258
194 results