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Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V. Nizon M, et al. Among authors: le galloudec e, le moing ag, le caignec c, le merrer m. Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425167 Review.
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
Jobic F, Lacot-Leriche E, Piton A, Le Moing AG, Mathieu-Dramard M, Costantini S, Morin G, Jedraszak G. Jobic F, et al. Among authors: le moing ag. Am J Med Genet A. 2021 Dec;185(12):3877-3883. doi: 10.1002/ajmg.a.62448. Epub 2021 Aug 6. Am J Med Genet A. 2021. PMID: 34357686
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G. Boutry-Kryza N, et al. Among authors: le moing ag. Eur J Med Genet. 2015 Feb;58(2):51-8. doi: 10.1016/j.ejmg.2014.11.007. Epub 2014 Dec 11. Eur J Med Genet. 2015. PMID: 25497044
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
Oegema R, McGillivray G, Leventer R, Le Moing AG, Bahi-Buisson N, Barnicoat A, Mandelstam S, Francis D, Francis F, Mancini GMS, Savelberg S, van Haaften G, Mankad K, Lequin MH. Oegema R, et al. Among authors: le moing ag. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):627-637. doi: 10.1002/ajmg.c.31751. Epub 2019 Nov 11. Am J Med Genet C Semin Med Genet. 2019. PMID: 31710781 Free PMC article. Review.
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
Kielar M, Tuy FP, Bizzotto S, Lebrand C, de Juan Romero C, Poirier K, Oegema R, Mancini GM, Bahi-Buisson N, Olaso R, Le Moing AG, Boutourlinsky K, Boucher D, Carpentier W, Berquin P, Deleuze JF, Belvindrah R, Borrell V, Welker E, Chelly J, Croquelois A, Francis F. Kielar M, et al. Among authors: le moing ag. Nat Neurosci. 2014 Jul;17(7):923-33. doi: 10.1038/nn.3729. Epub 2014 May 25. Nat Neurosci. 2014. PMID: 24859200 Free article.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet AF, Grunewald O, Vaclavik V, Meunier I, Drumare I, Pelletier V, Bocquet B, Todorova MG, Le Moing AG, Devos A, Schorderet DF, Jobic F, Defoort-Dhellemmes S, Dollfus H, Smirnov VM, Dhaenens CM. Poncet AF, et al. Among authors: le moing ag. Int J Mol Sci. 2022 Apr 13;23(8):4294. doi: 10.3390/ijms23084294. Int J Mol Sci. 2022. PMID: 35457110 Free PMC article.
28 results