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Page 1
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T. Legendre M, et al. Among authors: gesny r. J Med Genet. 2012 Nov;49(11):698-707. doi: 10.1136/jmedgenet-2012-100926. Epub 2012 Sep 28. J Med Genet. 2012. PMID: 23024289
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S, Ottolenghi C, Reyal F, Arnoux JB, Magen M, Simon M, Brassier A, Jabot-Hanin F, Lonlay P, Pontoizeau C, Guirat M, Rio M, Gesny R, Gigarel N, Royer G, Steffann J, Munnich A, Bonnefont JP. Gobin-Limballe S, et al. Among authors: gesny r. J Inherit Metab Dis. 2021 Sep;44(5):1235-1247. doi: 10.1002/jimd.12404. Epub 2021 Jun 10. J Inherit Metab Dis. 2021. PMID: 34014569
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Lerat J, Bonnet C, Cartault F, Loundon N, Jacquemont ML, Darcel F, Rouillon I, Mezouaghi K, Guichet A, Litzler J, Gesny R, Gherbi S, Aissa IB, Digeon FSJ, Garabedian EN, Bonnefont JP, Genin E, Denoyelle F, Jonard L, Marlin S. Lerat J, et al. Among authors: gesny r. Clin Genet. 2019 Jan;95(1):177-181. doi: 10.1111/cge.13460. Epub 2018 Nov 4. Clin Genet. 2019. PMID: 30298622
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
Philippe O, Rio M, Malan V, Van Esch H, Baujat G, Bahi-Buisson N, Valayannopoulos V, Gesny R, Bonnefont JP, Munnich A, Froyen G, Amiel J, Boddaert N, Colleaux L. Philippe O, et al. Among authors: gesny r. Eur J Hum Genet. 2013 Feb;21(2):195-9. doi: 10.1038/ejhg.2012.140. Epub 2012 Jul 18. Eur J Hum Genet. 2013. PMID: 22805531 Free PMC article.
Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.
Malan V, Gesny R, Morichon-Delvallez N, Aubry MC, Benachi A, Sanlaville D, Turleau C, Bonnefont JP, Fekete-Nihoul C, Vekemans M. Malan V, et al. Among authors: gesny r. Hum Reprod. 2007 Apr;22(4):1037-41. doi: 10.1093/humrep/del480. Epub 2007 Feb 1. Hum Reprod. 2007. PMID: 17272360