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194 results

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Page 1
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP. Cameron-Christie SR, et al. Among authors: robertson sp. Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805041 Free PMC article.
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
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2. Nat Genet. 2009. PMID: 19648921
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Sun Y, et al. Among authors: robertson sp. Am J Hum Genet. 2010 Jul 9;87(1):146-53. doi: 10.1016/j.ajhg.2010.06.008. Am J Hum Genet. 2010. PMID: 20598277 Free PMC article.
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A. Unger S, et al. Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641. Am J Med Genet A. 2010. PMID: 20830804
194 results