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Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P. Carmignac V, et al. Among authors: parker ver. Genet Med. 2021 Aug;23(8):1585. doi: 10.1038/s41436-021-01217-7. Genet Med. 2021. PMID: 34257424 Free PMC article. No abstract available.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P. Carmignac V, et al. Among authors: parker ver. Genet Med. 2021 Aug;23(8):1484-1491. doi: 10.1038/s41436-021-01161-6. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833411 Free PMC article.
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.
Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C; PROMISE Working Group; Vabres P, Semple RK, Biesecker LG. Parker VER, et al. Genet Med. 2019 May;21(5):1189-1198. doi: 10.1038/s41436-018-0297-9. Epub 2018 Oct 1. Genet Med. 2019. PMID: 30270358 Free PMC article.
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.
Luu M, Vabres P, Devilliers H, Loffroy R, Phan A, Martin L, Morice-Picard F, Petit F, Willems M, Bessis D, Jacquemont ML, Maruani A, Chiaverini C, Mirault T, Clayton-Smith J, Carpentier M, Fleck C, Maurer A, Yousfi M, Parker VER, Semple RK, Bardou M, Faivre L. Luu M, et al. Among authors: parker ver. Genet Med. 2021 Dec;23(12):2433-2442. doi: 10.1038/s41436-021-01290-y. Epub 2021 Aug 12. Genet Med. 2021. PMID: 34385668 Free PMC article. Clinical Trial.
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG. Douzgou S, et al. Clin Genet. 2022 Jan;101(1):32-47. doi: 10.1111/cge.14027. Epub 2021 Jul 16. Clin Genet. 2022. PMID: 34240408 Free PMC article. Review.
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
Gripp KW, Baker L, Kandula V, Conard K, Scavina M, Napoli JA, Griffin GC, Thacker M, Knox RG, Clark GR, Parker VE, Semple R, Mirzaa G, Keppler-Noreuil KM. Gripp KW, et al. Am J Med Genet A. 2016 Oct;170(10):2559-69. doi: 10.1002/ajmg.a.37758. Epub 2016 May 18. Am J Med Genet A. 2016. PMID: 27191687 Free PMC article. Review.
49 results