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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. 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: crisponi l. 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
Novel action of FOXL2 as mediator of Col1a2 gene autoregulation.
Marongiu M, Deiana M, Marcia L, Sbardellati A, Asunis I, Meloni A, Angius A, Cusano R, Loi A, Crobu F, Fotia G, Cucca F, Schlessinger D, Crisponi L. Marongiu M, et al. Among authors: crisponi l. Dev Biol. 2016 Aug 1;416(1):200-211. doi: 10.1016/j.ydbio.2016.05.022. Epub 2016 May 19. Dev Biol. 2016. PMID: 27212026 Free PMC article.
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: crisponi l. Am J Med Genet. 2002 Aug 15;111(3):328-33. doi: 10.1002/ajmg.10565. Am J Med Genet. 2002. PMID: 12210333 Review.
Determination and stability of sex.
Ottolenghi C, Uda M, Crisponi L, Omari S, Cao A, Forabosco A, Schlessinger D. Ottolenghi C, et al. Among authors: crisponi l. Bioessays. 2007 Jan;29(1):15-25. doi: 10.1002/bies.20515. Bioessays. 2007. PMID: 17187356 Review.
81 results