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First reports of fetal SMARCC1 related hydrocephalus.
Eur J Med Genet. 2023 Aug;66(8):104797. doi: 10.1016/j.ejmg.2023.104797. Epub 2023 Jun 5.
Eur J Med Genet. 2023.
PMID: 37285932
Review.
Maternal serum screening in cases of mosaic and translocation Down syndrome.
Dreux S, Olivier C, Dupont JM, Leporrier N; Study Group; Oury JF, Muller F.
Dreux S, et al.
Prenat Diagn. 2008 Aug;28(8):699-703. doi: 10.1002/pd.2051.
Prenat Diagn. 2008.
PMID: 18615544
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Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Heide S, Spentchian M, Valence S, Buratti J, Mach C, Lejeune E, Olin V, Massimello M, Lehalle D, Mouthon L, Whalen S, Faudet A, Mignot C, Garel C, Blondiaux E, Lefebvre M, Quenum-Miraillet G, Chantot-Bastaraud S, Milh M, Bretelle F, Portes VD, Guibaud L, Putoux A, Tsatsaris V, Spodenkiewic M, Layet V, Dard R, Mandelbrot L, Guet A, Moutton S, Gorce M, Nizon M, Vincent M, Beneteau C, Rocchisanni MA, Benachi A, Saada J, Attié-Bitach T, Guilbaud L, Maurice P, Friszer S, Jouannic JM, de Villemeur TB, Moutard ML, Keren B, Héron D.
Heide S, et al. Among authors: quenum miraillet g.
Genet Med. 2020 Nov;22(11):1887-1891. doi: 10.1038/s41436-020-0872-8. Epub 2020 Jun 22.
Genet Med. 2020.
PMID: 32565546
Free article.
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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Nguyen T, Heide S, Guilbaud L, Valence S, Perre SV, Blondiaux E, Keren B, Quenum-Miraillet G, Jouannic JM, Mandelbrot L, Picone O, Guet A, Tsatsaris V, Milh M, Girard N, Vincent M, Nizon M, Poirsier C, Vivanti A, Benachi A, Portes VD, Guibaud L, Patat O, Spentchian M, Frugère L, Héron D, Garel C.
Nguyen T, et al. Among authors: quenum miraillet g.
Prenat Diagn. 2023 Jun;43(6):746-755. doi: 10.1002/pd.6382. Epub 2023 May 23.
Prenat Diagn. 2023.
PMID: 37173814
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Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Jaillard A, Valence S, Vande Perre S, Dhombres F, Héron D, Billette de Villemeur T, Keren B, Afenjar A, Qebibo L, Harion M, Quenum-Miraillet G, Rodriguez D, Jouannic JM, Burglen L, Garel C.
Jaillard A, et al. Among authors: quenum miraillet g.
Prenat Diagn. 2024 Jan;44(1):35-48. doi: 10.1002/pd.6495. Epub 2024 Jan 2.
Prenat Diagn. 2024.
PMID: 38165124
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The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.
Awad F, Assrawi E, Jumeau C, Odent S, Despert V, Cam G, Perdriger A, Louvrier C, Cobret L, Copin B, Chantot-Bastaraud S, Duquesnoy P, Piterboth W, Le Jeunne C, Quenum-Miraillet G, Siffroi JP, Georgin-Lavialle S, Grateau G, Legendre M, Giurgea I, Karabina SA, Amselem S.
Awad F, et al. Among authors: quenum miraillet g.
ACR Open Rheumatol. 2019 Jun 6;1(4):267-276. doi: 10.1002/acr2.1039. eCollection 2019 Jun.
ACR Open Rheumatol. 2019.
PMID: 31777803
Free PMC article.
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Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia.
Quenum-Miraillet G, Malan V, Martinovic J, Encha-Razavi F, Aral B, Texier I, Bonnefont JP, Vekemans M, Morichon-Delvallez N.
Quenum-Miraillet G, et al.
Prenat Diagn. 2008 Jan;28(1):69-71. doi: 10.1002/pd.1911.
Prenat Diagn. 2008.
PMID: 18186139
No abstract available.
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Imaging Factors Affecting Prenatal Counseling in Orofacial Clefts.
Hermann AL, Soupre V, Vande Perre S, Guilbaud L, Quenum-Miraillet G, Blondiaux E, Picard A, Jouannic JM, Dhombres F, Garel C.
Hermann AL, et al. Among authors: quenum miraillet g.
Fetal Diagn Ther. 2023;50(2):70-83. doi: 10.1159/000529821. Epub 2023 Feb 28.
Fetal Diagn Ther. 2023.
PMID: 36854283
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