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[Hereditary hemorrhagic telangiectasia].
Parrot A, Barral M, Amiot X, Bachmeyer C, Wagner I, Eyries M, Alamowitch S, Ederhy S, Epaud R, Dupuis-Girod S, Cadranel J. Parrot A, et al. Rev Mal Respir. 2023 May;40(5):391-405. doi: 10.1016/j.rmr.2023.02.007. Epub 2023 Apr 14. Rev Mal Respir. 2023. PMID: 37062633 Review. French.
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
Monin P, Reynaud N, Hanna N, Dupuis-Girod S, Till M, Arnaud P, Labalme A, Alix E, Poizat-Amar C, Faoucher M, Ravella L, Debost B, Obadia JF, Zech JC, Boileau C, Sanlaville D, Edery P, Putoux A, Schluth-Bolard C. Monin P, et al. Cytogenet Genome Res. 2020;160(2):72-79. doi: 10.1159/000506319. Epub 2020 Mar 18. Cytogenet Genome Res. 2020. PMID: 32187601
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Chassagne A, Pélissier A, Houdayer F, Cretin E, Gautier E, Salvi D, Kidri S, Godard A, Thauvin-Robinet C, Masurel A, Lehalle D, Jean-Marçais N, Thevenon J, Lesca G, Putoux A, Cordier MP, Dupuis-Girod S, Till M, Duffourd Y, Rivière JB, Joly L, Juif C, Putois O, Ancet P, Lapointe AS, Morin P, Edery P, Rossi M, Sanlaville D, Béjean S, Peyron C, Faivre L. Chassagne A, et al. Eur J Hum Genet. 2019 May;27(5):701-710. doi: 10.1038/s41431-018-0332-y. Epub 2019 Feb 1. Eur J Hum Genet. 2019. PMID: 30710147 Free PMC article.
Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.
Kawasaki K, Freimuth J, Meyer DS, Lee MM, Tochimoto-Okamoto A, Benzinou M, Clermont FF, Wu G, Roy R, Letteboer TG, Ploos van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Westermann CJ, Coffey RJ Jr, Akhurst RJ. Kawasaki K, et al. Proc Natl Acad Sci U S A. 2014 May 27;111(21):7723-8. doi: 10.1073/pnas.1318761111. Epub 2014 May 8. Proc Natl Acad Sci U S A. 2014. PMID: 24812125 Free PMC article.
124 results