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Page 1
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, Gholam K, Heales S, Krywawych S, López-Balboa P, Muwanga-Nanyonjo N, Ogunbiyi O, Puvirajasinghe C, Solman L, Swarbrick K, Syed SB, Tahir Z, Tisdall MM, Allgrove J, Chesover AD, Aylett SE, Jacques TS, Hannan FM, Löbel U, Semple RK, Thakker RV, Kinsler VA. Knöpfel N, et al. Among authors: lopez balboa p. J Invest Dermatol. 2024 Apr;144(4):820-832.e9. doi: 10.1016/j.jid.2023.09.008. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802294 Free PMC article.
Mosaic BRAF Fusions Are a Recurrent Cause of Congenital Melanocytic Nevi Targetable by MAPK Pathway Inhibition.
Martin SB, Polubothu S, Bruzos AL, Kelly G, Horswell S, Sauvadet A, Bryant D, Zecchin D, Riachi M, Michailidis F, Sadri A, Muwanga-Nanyonjo N, Lopez-Balboa P, Knöpfel N, Bulstrode N, Pittman A, Yeh I, Kinsler VA. Martin SB, et al. Among authors: lopez balboa p. J Invest Dermatol. 2024 Mar;144(3):593-600.e7. doi: 10.1016/j.jid.2023.06.213. Epub 2023 Sep 15. J Invest Dermatol. 2024. PMID: 37716647 Free article.
Pigmented purpuric dermatosis in an infant.
Martos-Cabrera L, López-Balboa P, Ramírez-Lluch M, Colmenero I, Mateos-Mayo A, Torrelo A, Hernández-Martin Á. Martos-Cabrera L, et al. Among authors: lopez balboa p. Pediatr Dermatol. 2021 Mar;38(2):504-505. doi: 10.1111/pde.14500. Epub 2021 Jan 6. Pediatr Dermatol. 2021. PMID: 33403710
Bier anaemic spots, cyanosis and urticaria-like eruption syndrome: Report of two new cases.
Ramírez-Lluch M, Torre-Castro J, López-Balboa P, Martos-Cabrera L, Mateos-Mayo A, Lobo Bailón F, Hernández-Martín Á, Torrelo A. Ramírez-Lluch M, et al. Among authors: lopez balboa p. Australas J Dermatol. 2021 Aug;62(3):428-433. doi: 10.1111/ajd.13564. Epub 2021 Mar 4. Australas J Dermatol. 2021. PMID: 33660844 No abstract available.
Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin.
López-Balboa P, Martos-Cabrera L, Ramírez-Lluch M, Noguera-Morel L, Ortiz-Cabrera NV, González-Sarmiento R, Torrelo A, Hernández-Martín Á. López-Balboa P, et al. J Eur Acad Dermatol Venereol. 2022 Oct;36(10):e789-e790. doi: 10.1111/jdv.18271. Epub 2022 Jun 7. J Eur Acad Dermatol Venereol. 2022. PMID: 35633076 No abstract available.
Becker naevi are associated with neurologic abnormalities.
Lopez-Balboa P, Knöpfel N, Ramwani M, Muwanga-Nanyonjo N, O'Neill C, Lomas D, Cullup T, Polubothu S, Kinsler VA. Lopez-Balboa P, et al. J Am Acad Dermatol. 2024 Nov 21:S0190-9622(24)03248-1. doi: 10.1016/j.jaad.2024.09.085. Online ahead of print. J Am Acad Dermatol. 2024. PMID: 39577695 Free article. No abstract available.