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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
Glypican 3 and glypican 4 are juxtaposed in Xq26.1.
Huber R, Mazzarella R, Chen CN, Chen E, Ireland M, Lindsay S, Pilia G, Crisponi L. Huber R, et al. Among authors: crisponi l. Gene. 1998 Dec 28;225(1-2):9-16. doi: 10.1016/s0378-1119(98)00549-6. Gene. 1998. PMID: 9931407
Jagged-1 mutation analysis in Italian Alagille syndrome patients.
Pilia G, Uda M, Macis D, Frau F, Crisponi L, Balli F, Barbera C, Colombo C, Frediani T, Gatti R, Iorio R, Marazzi MG, Marcellini M, Musumeci S, Nebbia G, Vajro P, Ruffa G, Zancan L, Cao A, DeVirgilis S. Pilia G, et al. Among authors: crisponi l. Hum Mutat. 1999;14(5):394-400. doi: 10.1002/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1. Hum Mutat. 1999. PMID: 10533065
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
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.
Aging of oocyte, ovary, and human reproduction.
Ottolenghi C, Uda M, Hamatani T, Crisponi L, Garcia JE, Ko M, Pilia G, Sforza C, Schlessinger D, Forabosco A. Ottolenghi C, et al. Among authors: crisponi l. Ann N Y Acad Sci. 2004 Dec;1034:117-31. doi: 10.1196/annals.1335.015. Ann N Y Acad Sci. 2004. PMID: 15731305 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.
86 results