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266 results

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Page 1
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: uda m. 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: uda m. 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
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: uda m. 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
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: uda m. Bioessays. 2007 Jan;29(1):15-25. doi: 10.1002/bies.20515. Bioessays. 2007. PMID: 17187356 Review.
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F. Crisponi L, et al. Among authors: uda m. Am J Hum Genet. 2007 May;80(5):971-81. doi: 10.1086/516843. Epub 2007 Mar 30. Am J Hum Genet. 2007. PMID: 17436252 Free PMC article.
Determination and stability of gonadal sex.
Schlessinger D, Garcia-Ortiz JE, Forabosco A, Uda M, Crisponi L, Pelosi E. Schlessinger D, et al. Among authors: uda m. J Androl. 2010 Jan-Feb;31(1):16-25. doi: 10.2164/jandrol.109.008201. Epub 2009 Oct 29. J Androl. 2010. PMID: 19875493 Free PMC article. Review.
266 results