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A 22q13.1 duplication in mosaicism including SOX10.
Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschké P, Maurin ML, Lapierre JM, Loundon N, Belhous K, Bondurand N, Marlin S, Pingault V. Bertani-Torres W, et al. Among authors: lapierre jm. Am J Med Genet A. 2023 Dec;191(12):2813-2818. doi: 10.1002/ajmg.a.63362. Epub 2023 Aug 2. Am J Med Genet A. 2023. PMID: 37533297
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: lapierre jm. 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: lapierre jm. 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.
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. Mercati O, et al. Among authors: lapierre jm. Eur J Med Genet. 2020 Nov;63(11):104033. doi: 10.1016/j.ejmg.2020.104033. Epub 2020 Aug 8. Eur J Med Genet. 2020. PMID: 32781272 Review.
Discovery of 3-(3-(4-(1-Aminocyclobutyl)phenyl)-5-phenyl-3H-imidazo[4,5-b]pyridin-2-yl)pyridin-2-amine (ARQ 092): An Orally Bioavailable, Selective, and Potent Allosteric AKT Inhibitor.
Lapierre JM, Eathiraj S, Vensel D, Liu Y, Bull CO, Cornell-Kennon S, Iimura S, Kelleher EW, Kizer DE, Koerner S, Makhija S, Matsuda A, Moussa M, Namdev N, Savage RE, Szwaya J, Volckova E, Westlund N, Wu H, Schwartz B. Lapierre JM, et al. J Med Chem. 2016 Jul 14;59(13):6455-69. doi: 10.1021/acs.jmedchem.6b00619. Epub 2016 Jun 29. J Med Chem. 2016. PMID: 27305487
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
Malan V, Lapierre JM, Egloff M, Goidin D, Beaujard MP, Maurin ML, Attié-Bitach T, Bessières B, Bernard JP, Roth P, Stirnemann J, Salomon L, Romana S, Vekemans M, Ville Y, Turleau C. Malan V, et al. Among authors: lapierre jm. Cytogenet Genome Res. 2015;147(2-3):103-10. doi: 10.1159/000442904. Epub 2016 Jan 7. Cytogenet Genome Res. 2015. PMID: 26735902
39 results