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Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J. Mary L, et al. Clin Genet. 2019 Mar;95(3):384-397. doi: 10.1111/cge.13500. Clin Genet. 2019. PMID: 30614526
Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.
Beaumont M, Tucker EJ, Mary L, Launay E, Lurton Y, Pimentel C, Rollier P, Akloul L, Beneteau C, Chevallier-Bordeau S, Neyroud AS, Pichon O, Ravel C, Odent S, Belaud-Rotureau MA, Jaillard S. Beaumont M, et al. Among authors: mary l. Cytogenet Genome Res. 2019;159(4):201-207. doi: 10.1159/000504820. Epub 2019 Dec 20. Cytogenet Genome Res. 2019. PMID: 31865337
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, Beneteau C, Le Vaillant C, Coutton C, Devillard F, Goumy C, Delabaere A, Redon S, Laurent Y, Lamouroux A, Massardier J, Turleau C, Sanlaville D, Cantagrel V, Sonigo P, Vialard F, Salomon LJ, Malan V. Lesieur-Sebellin M, et al. Among authors: mary l. Prenat Diagn. 2022 Jan;42(1):118-135. doi: 10.1002/pd.6074. Epub 2021 Dec 11. Prenat Diagn. 2022. PMID: 34894355
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.
Mary L, Leclerc D, Labalme A, Bellaud P, Mazaud-Guittot S, Dréano S, Evrard B, Bigand A, Cauchoix A, Loget P, Lokchine A, Cluzeau L, Gilot D, Belaud-Rotureau MA, Jaillard S. Mary L, et al. Genes (Basel). 2023 Jan 20;14(2):273. doi: 10.3390/genes14020273. Genes (Basel). 2023. PMID: 36833200 Free PMC article.
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.
Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA. Mary L, et al. Eur J Med Genet. 2023 Jun;66(6):104748. doi: 10.1016/j.ejmg.2023.104748. Epub 2023 Mar 21. Eur J Med Genet. 2023. PMID: 36948288 Free article. Review.
29 results