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Page 1
A novel homozygous MMP2 mutation in a family with Winchester syndrome.
Rouzier C, Vanatka R, Bannwarth S, Philip N, Coussement A, Paquis-Flucklinger V, Lambert JC. Rouzier C, et al. Among authors: coussement a. Clin Genet. 2006 Mar;69(3):271-6. doi: 10.1111/j.1399-0004.2006.00584.x. Clin Genet. 2006. PMID: 16542393
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.
74 results