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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: pilia g. Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781. Nat Genet. 2001. PMID: 11175783
Foxl2 is required for commitment to ovary differentiation.
Ottolenghi C, Omari S, Garcia-Ortiz JE, Uda M, Crisponi L, Forabosco A, Pilia G, Schlessinger D. Ottolenghi C, et al. Among authors: pilia g. Hum Mol Genet. 2005 Jul 15;14(14):2053-62. doi: 10.1093/hmg/ddi210. Epub 2005 Jun 8. Hum Mol Genet. 2005. PMID: 15944199
Genes and translocations involved in POF.
Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M, Pilia G, Forabosco A. Schlessinger D, et al. Among authors: pilia g. Am J Med Genet. 2002 Aug 15;111(3):328-33. doi: 10.1002/ajmg.10565. Am J Med Genet. 2002. PMID: 12210333 Review.
IRAK-M is involved in the pathogenesis of early-onset persistent asthma.
Balaci L, Spada MC, Olla N, Sole G, Loddo L, Anedda F, Naitza S, Zuncheddu MA, Maschio A, Altea D, Uda M, Pilia S, Sanna S, Masala M, Crisponi L, Fattori M, Devoto M, Doratiotto S, Rassu S, Mereu S, Giua E, Cadeddu NG, Atzeni R, Pelosi U, Corrias A, Perra R, Torrazza PL, Pirina P, Ginesu F, Marcias S, Schintu MG, Del Giacco GS, Manconi PE, Malerba G, Bisognin A, Trabetti E, Boner A, Pescollderungg L, Pignatti PF, Schlessinger D, Cao A, Pilia G. Balaci L, et al. Among authors: pilia s, pilia g. Am J Hum Genet. 2007 Jun;80(6):1103-14. doi: 10.1086/518259. Epub 2007 Apr 27. Am J Hum Genet. 2007. PMID: 17503328 Free PMC article.
Heritability of cardiovascular and personality traits in 6,148 Sardinians.
Pilia G, Chen WM, Scuteri A, Orrú M, Albai G, Dei M, Lai S, Usala G, Lai M, Loi P, Mameli C, Vacca L, Deiana M, Olla N, Masala M, Cao A, Najjar SS, Terracciano A, Nedorezov T, Sharov A, Zonderman AB, Abecasis GR, Costa P, Lakatta E, Schlessinger D. Pilia G, et al. PLoS Genet. 2006 Aug 25;2(8):e132. doi: 10.1371/journal.pgen.0020132. Epub 2006 Jul 10. PLoS Genet. 2006. PMID: 16934002 Free PMC article.
62 results