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The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Colson C, Tessarech M, Boucher-Brischoux E, Boute-Benejean O, Vincent-Delorme C, Vanlerberghe C, Boussion S, Cunff JL, Duban-Bedu B, Faivre L, Thauvin C, Philippe C, Bruel AL, Tran Mau-Them F, Houdayer C, Lesca G, Putoux A, Lévy J, Patat O, Rio M, Ghoumid J, Smol T. Colson C, et al. Among authors: philippe c. Clin Genet. 2024 Dec 29. doi: 10.1111/cge.14688. Online ahead of print. Clin Genet. 2024. PMID: 39837771
Preclinical evaluation of the potential PARP-imaging probe [carbonyl-11C]DPQ.
Benčurová K, Balber T, Weissenböck V, Kogler L, Friske J, Pichler V, Mitterhauser M, Hacker M, Philippe C, Ozenil M. Benčurová K, et al. Among authors: philippe c. EJNMMI Radiopharm Chem. 2025 Jan 10;10(1):1. doi: 10.1186/s41181-024-00323-6. EJNMMI Radiopharm Chem. 2025. PMID: 39792304 Free PMC article.
Mouse strain-specific responses along the gut-brain axis upon fecal microbiota transplantation from children with autism.
Prince N, Peralta Marzal LN, Roussin L, Monnoye M, Philippe C, Maximin E, Ahmed S, Salenius K, Lin J, Autio R, Adolfs Y, Pasterkamp RJ, Garssen J, Naudon L, Rabot S, Kraneveld AD, Perez-Pardo P. Prince N, et al. Among authors: philippe c. Gut Microbes. 2025 Dec;17(1):2447822. doi: 10.1080/19490976.2024.2447822. Epub 2025 Jan 7. Gut Microbes. 2025. PMID: 39773319 Free PMC article.
Change in sleep quality Induced by adaptive servo-ventilation for central sleep apnea: 6-month follow-up of the multicenter nationwide French FACIL-VAA cohort.
Tamisier R, Philippe C, Prigent A, Charley-Monaca C, d'Ortho MP, Gentina T, Gagnadoux F, Launois C, Bironneau V, Mallet JP, Didi T, Guy T, Goutorbe F, Perrin C, Pontier-Marchandise S, Timsit JF, Pépin JL, Meurice JC; FACIL-VAA investigators. Tamisier R, et al. Among authors: philippe c. Chest. 2024 Dec 20:S0012-3692(24)05717-9. doi: 10.1016/j.chest.2024.12.015. Online ahead of print. Chest. 2024. PMID: 39710250 Free article.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: philippe c. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
572 results