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162 results

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3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C. Massier M, et al. Among authors: romana s. Am J Med Genet A. 2024 Feb 29:e63531. doi: 10.1002/ajmg.a.63531. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421086
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Türel Ö, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guérin A, Bastard P, Moncada-Vélez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Pérez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ahmad Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudée C, Paz MEJ, González ML, Jeljeli M, Soulier J, Romana S, L'Honneur AS, Materna M, Martínez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Lévy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Béziat V, Lachmann N, Langlais D, Casanova JL, Gros P, Bustamante J. Rosain J, et al. Among authors: romana s. Cell. 2023 Feb 2;186(3):621-645.e33. doi: 10.1016/j.cell.2022.12.038. Cell. 2023. PMID: 36736301 Free PMC article.
Cyclic fertilin-derived peptide stimulates in vitro human embryo development.
Denizot AL, L'Hostis A, Sallem A, Favier S, Pierre R, Do Cruzeiro M, Guilbert T, Burlet P, Lapierre JM, Robain M, Le Lorc'H M, Vicaut E, Chatzovoulou K, Steffann J, Romana S, Méhats C, Santulli P, Patrat C, Vaiman D, Ziyyat A, Wolf JP. Denizot AL, et al. Among authors: romana s. F S Sci. 2022 Feb;3(1):49-63. doi: 10.1016/j.xfss.2021.12.002. Epub 2021 Dec 21. F S Sci. 2022. PMID: 35559995 Free article.
A fertilin-derived peptide improves in vitro maturation and ploidy of human oocytes.
Sallem A, Denizot AL, Ziyyat A, L'Hostis A, Favier S, Burlet P, Lapierre JM, Dimby SF, Patrat C, Sifer C, Vicaut E, Steffann J, Vaiman D, Romana SP, Wolf JP. Sallem A, et al. Among authors: romana sp. F S Sci. 2022 Feb;3(1):21-28. doi: 10.1016/j.xfss.2021.10.004. Epub 2021 Nov 3. F S Sci. 2022. PMID: 35559993 Free article. Clinical Trial.
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.
Nicolle R, Siquier-Pernet K, Rio M, Guimier A, Ollivier E, Nitschke P, Bole-Feysot C, Romana S, Hastie A, Cantagrel V, Malan V. Nicolle R, et al. Among authors: romana s. Eur J Hum Genet. 2022 Jun;30(6):712-720. doi: 10.1038/s41431-022-01094-x. Epub 2022 Apr 7. Eur J Hum Genet. 2022. PMID: 35388186 Free PMC article.
ImmunoStart: preparing patients for immunosuppression.
Martin C, Muls V, Brasseur C, Meric de Bellefon L, Lam Hoai XL, Vanderhilst J, Delforge M, Di Romana S. Martin C, et al. Among authors: di romana s. Rheumatol Adv Pract. 2021 Nov 27;5(3):rkab092. doi: 10.1093/rap/rkab092. eCollection 2021. Rheumatol Adv Pract. 2021. PMID: 34909567 Free PMC article.
162 results