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Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Nicolle R, Boutaud L, Loeuillet L, Talhi N, Grotto S, Bourgon N, Feresin A, Coussement A, Barrois M, Beaujard MP, Rambaud T, Razavi F, Attié-Bitach T. Nicolle R, et al. Among authors: coussement a. Eur J Hum Genet. 2024 May;32(5):545-549. doi: 10.1038/s41431-024-01558-2. Epub 2024 Feb 13. Eur J Hum Genet. 2024. PMID: 38351293
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Lajmi Y, Loeuillet L, Petrilli G, Egloff C, Nectoux J, Molac C, Roux N, Pannier E, Achaiaa A, Arkoub ZA, Chuon S, Coussement A, Dupont JM, Malan V, Spaggiari E, Razavi F, Amiel J, Bessières B, Grotto S, Attié-Bitach T. Lajmi Y, et al. Among authors: coussement a. Birth Defects Res. 2023 Mar 15;115(5):563-571. doi: 10.1002/bdr2.2141. Epub 2022 Dec 20. Birth Defects Res. 2023. PMID: 36538874
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: coussement a. Prenat Diagn. 2022 Jan;42(1):118-135. doi: 10.1002/pd.6074. Epub 2021 Dec 11. Prenat Diagn. 2022. PMID: 34894355
COVID-19 or not COVID-19? Compared characteristics of patients hospitalized for suspected COVID-19.
Rogier T, Eberl I, Moretto F, Sixt T, Catherine FX, Estève C, Abdallahoui M, Behague L, Coussement A, Mathey L, Mahy S, Buisson M, Salmon-Rousseau A, Duong M, Chavanet P, Bernard Q, Nicolas B, Benguella L, Bonnotte B, Blot M, Piroth L. Rogier T, et al. Among authors: coussement a. Eur J Clin Microbiol Infect Dis. 2021 Sep;40(9):2023-2028. doi: 10.1007/s10096-021-04216-3. Epub 2021 Mar 8. Eur J Clin Microbiol Infect Dis. 2021. PMID: 33686557 Free PMC article.
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Hureaux M, Ben Miled S, Chatron N, Coussement A, Bessières B, Egloff M, Mechler C, Stirnemann J, Tsatsaris V, Barcia G, Turleau C, Ville Y, Encha-Razavi F, Attie-Bitach T, Malan V. Hureaux M, et al. Among authors: coussement a. Prenat Diagn. 2019 Oct;39(11):1026-1034. doi: 10.1002/pd.5523. Epub 2019 Aug 9. Prenat Diagn. 2019. PMID: 31299102
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
Pierron L, Irrmann A, de Chalus A, Bloch A, Heide S, Rogers E, Lédée N, Prat-Ellenberg L, Coussement A, Dupont JM, Cassuto NG, Siffroi JP, Rouen A. Pierron L, et al. Among authors: coussement a. J Assist Reprod Genet. 2019 May;36(5):973-978. doi: 10.1007/s10815-019-01430-z. Epub 2019 Mar 8. J Assist Reprod Genet. 2019. PMID: 30850901 Free PMC article.
Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.
Egloff M, Hervé B, Quibel T, Jaillard S, Le Bouar G, Uguen K, Saliou AH, Valduga M, Perdriolle E, Coutton C, Coston AL, Coussement A, Anselem O, Missirian C, Bretelle F, Prieur F, Fanget C, Muti C, Jacquemot MC, Beneteau C, Le Vaillant C, Vekemans M, Salomon LJ, Vialard F, Malan V. Egloff M, et al. Among authors: coussement a. Ultrasound Obstet Gynecol. 2018 Dec;52(6):715-721. doi: 10.1002/uog.18928. Ultrasound Obstet Gynecol. 2018. PMID: 29027723 Free article.
73 results