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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: irvine ad. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403
Congenital reticular ichthyosiform erythroderma.
Dvorakova V, Watson RM, Terron-Kwiatkowski A, Andrew N, Irvine AD. Dvorakova V, et al. Among authors: irvine ad. Clin Exp Dermatol. 2016 Jul;41(5):576-7. doi: 10.1111/ced.12795. Epub 2016 Jan 23. Clin Exp Dermatol. 2016. PMID: 26801004 No abstract available.
High-dose bilastine for the treatment of BASCULE syndrome.
Cunningham L, Dvorakova V, Browne F, Irvine AD. Cunningham L, et al. Among authors: irvine ad. Clin Exp Dermatol. 2021 Mar;46(2):357-358. doi: 10.1111/ced.14377. Epub 2020 Aug 26. Clin Exp Dermatol. 2021. PMID: 32658312 No abstract available.
The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas.
Diociaiuti A, Baselga E, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M. Diociaiuti A, et al. Among authors: irvine ad. Eur J Med Genet. 2022 Jun;65(6):104517. doi: 10.1016/j.ejmg.2022.104517. Epub 2022 Apr 27. Eur J Med Genet. 2022. PMID: 35487416 Free article.
The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations.
Ghaffarpour N, Baselga E, Boon LM, Diociaiuti A, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M. Ghaffarpour N, et al. Among authors: irvine ad. Eur J Med Genet. 2022 Dec;65(12):104637. doi: 10.1016/j.ejmg.2022.104637. Epub 2022 Oct 9. Eur J Med Genet. 2022. PMID: 36223836 Free article.
330 results