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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: bonneau d. Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781. Nat Genet. 2001. PMID: 11175783
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.
Bisceglia L, d'Ambrosio L, Piemontese MR, Carella M, Amati P, Bonneau D, Pilia G, Gasparini P, Zelante L. Bisceglia L, et al. Among authors: bonneau d, d ambrosio l. Mol Cell Probes. 1998 Aug;12(4):255-8. doi: 10.1006/mcpr.1998.0171. Mol Cell Probes. 1998. PMID: 9727204 No abstract available.
Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
Castets S, Roucher-Boulez F, Saveanu A, Mallet-Motak D, Chabre O, Amati-Bonneau P, Bonneau D, Girardin C, Morel Y, Villanueva C, Brue T, Reynaud R, Nicolino M. Castets S, et al. Among authors: bonneau d. Horm Res Paediatr. 2020;93(1):30-39. doi: 10.1159/000507249. Epub 2020 May 26. Horm Res Paediatr. 2020. PMID: 32454486
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H. Stoetzel C, et al. Among authors: bonneau d. J Hum Genet. 2006;51(1):81-84. doi: 10.1007/s10038-005-0320-2. Epub 2005 Nov 25. J Hum Genet. 2006. PMID: 16308660
Brachymorphism-onychodysplasia-dysphalangism syndrome.
Verloes A, Bonneau D, Guidi O, Berthier M, Oriot D, Van Maldergem L, Koulischer L. Verloes A, et al. Among authors: bonneau d. J Med Genet. 1993 Feb;30(2):158-61. doi: 10.1136/jmg.30.2.158. J Med Genet. 1993. PMID: 8445623 Free PMC article.
443 results