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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB. Vabres P, et al. Among authors: kinsler va. Nat Genet. 2019 Oct;51(10):1438-1441. doi: 10.1038/s41588-019-0498-4. Epub 2019 Sep 30. Nat Genet. 2019. PMID: 31570889 Free PMC article.
Saccadic eye movements while reading music.
Kinsler V, Carpenter RH. Kinsler V, et al. Vision Res. 1995 May;35(10):1447-58. doi: 10.1016/0042-6989(95)98724-n. Vision Res. 1995. PMID: 7645273 Free article.
Impact of public exhibition on the perception of birthmarks.
Zolkwer MB, Whitehouse J, Sanderson SC, Kinsler VA. Zolkwer MB, et al. Among authors: kinsler va. Pediatr Dermatol. 2023 Jul-Aug;40(4):615-620. doi: 10.1111/pde.15315. Epub 2023 May 22. Pediatr Dermatol. 2023. PMID: 37212633
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Kinsler VA, Thomas AC, Ishida M, Bulstrode NW, Loughlin S, Hing S, Chalker J, McKenzie K, Abu-Amero S, Slater O, Chanudet E, Palmer R, Morrogh D, Stanier P, Healy E, Sebire NJ, Moore GE. Kinsler VA, et al. J Invest Dermatol. 2013 Sep;133(9):2229-36. doi: 10.1038/jid.2013.70. Epub 2013 Feb 7. J Invest Dermatol. 2013. PMID: 23392294 Free PMC article.
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Thomas AC, Zeng Z, Rivière JB, O'Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA. Thomas AC, et al. Among authors: kinsler va. J Invest Dermatol. 2016 Apr;136(4):770-778. doi: 10.1016/j.jid.2015.11.027. Epub 2016 Jan 14. J Invest Dermatol. 2016. PMID: 26778290 Free PMC article.
Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome.
Polubothu S, Al-Olabi L, Wilson L, Chong WK, Kinsler VA. Polubothu S, et al. Among authors: kinsler va. Br J Dermatol. 2016 Sep;175(3):612-4. doi: 10.1111/bjd.14478. Epub 2016 Jun 23. Br J Dermatol. 2016. PMID: 26872686 Free PMC article. No abstract available.
93 results