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X-linked situs abnormalities result from mutations in ZIC3.
Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. Gebbia M, et al. Among authors: schlessinger d. Nat Genet. 1997 Nov;17(3):305-8. doi: 10.1038/ng1197-305. Nat Genet. 1997. PMID: 9354794
A submicroscopic deletion in Xq26 associated with familial situs ambiguus.
Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. Ferrero GB, et al. Among authors: schlessinger d. Am J Hum Genet. 1997 Aug;61(2):395-401. doi: 10.1086/514857. Am J Hum Genet. 1997. PMID: 9311745 Free PMC article.
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3.
Ferrero GB, Franco B, Roth EJ, Firulli BA, Borsani G, Delmas-Mata J, Weissenbach J, Halley G, Schlessinger D, Chinault AC, Zoghbi HY, Nelson DL, Ballabio A. Ferrero GB, et al. Among authors: schlessinger d. Hum Mol Genet. 1995 Oct;4(10):1821-7. doi: 10.1093/hmg/4.10.1821. Hum Mol Genet. 1995. PMID: 8595402
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. Crisponi L, et al. Among authors: schlessinger d. Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781. Nat Genet. 2001. PMID: 11175783
Dinucleotide repeat polymorphism at Xq26.1 (DXS1114).
Weber C, Oudet C, Johnson S, Pilia G, Schlessinger D, Hanauer A. Weber C, et al. Among authors: schlessinger d. Hum Mol Genet. 1993 May;2(5):612. doi: 10.1093/hmg/2.5.612. Hum Mol Genet. 1993. PMID: 8518807 No abstract available.
624 results