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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: nivelon a. Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781. Nat Genet. 2001. PMID: 11175783
Increased paternal age in CHARGE association.
Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Among authors: nivelon a. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897
A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.
Vincent C, Kalatzis V, Compain S, Levilliers J, Slim R, Graia F, Pereira ML, Nivelon A, Croquette MF, Lacombe D, et al. Vincent C, et al. Among authors: nivelon a. Hum Mol Genet. 1994 Oct;3(10):1859-66. doi: 10.1093/hmg/3.10.1859. Hum Mol Genet. 1994. PMID: 7849713
[Apert's syndrome with polymetatarsia].
Nivelon A, Nivelon JL, Matthieu M, Piussan C, Maroteaux P. Nivelon A, et al. Ann Pediatr (Paris). 1991 Jan;38(1):9-13. Ann Pediatr (Paris). 1991. PMID: 1848742 French.
[Phaeochromocytoma in children].
Jeune M, Jaubert de Beaujeu M, Nivelon A, Nivelon JL, Freycon F, Racle P. Jeune M, et al. Among authors: nivelon a, nivelon jl. J Med Lyon. 1965 Nov 5;46(86):1699-721. J Med Lyon. 1965. PMID: 5888841 French. No abstract available.
23 results