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Page 1
Pseudoxanthoma elasticum presenting without typical skin changes.
Stembridge N, Rytina E, Holden S, Burrows NP. Stembridge N, et al. Among authors: holden s. Clin Exp Dermatol. 2020 Jun;45(4):518-520. doi: 10.1111/ced.14177. Epub 2020 Mar 25. Clin Exp Dermatol. 2020. PMID: 32212265 No abstract available.
Hereditary leiomyomatosis associated with renal cell carcinoma.
Venables ZC, Ramaiya A, Holden S, Millington GW. Venables ZC, et al. Among authors: holden s. Clin Exp Dermatol. 2015 Jan;40(1):99-100. doi: 10.1111/ced.12521. Epub 2014 Dec 5. Clin Exp Dermatol. 2015. PMID: 25477250 No abstract available.
Focal dermal hypoplasia: inheritance from father to daughter.
Durack A, Burrows NP, Staughton RCD, Shalders K, Mellerio JE, Holden ST. Durack A, et al. Among authors: holden st. Clin Exp Dermatol. 2017 Jun;42(4):457-459. doi: 10.1111/ced.13047. Epub 2017 Apr 10. Clin Exp Dermatol. 2017. PMID: 28397289 No abstract available.
Sporadic Blau syndrome treated with adalimumab.
Millington GWM, Dobson J, Holden S, Waters G, Puvanachandra N, Close R, Bale P, Armon K. Millington GWM, et al. Among authors: holden s. Clin Exp Dermatol. 2019 Oct;44(7):811-813. doi: 10.1111/ced.14016. Epub 2019 Jun 24. Clin Exp Dermatol. 2019. PMID: 31232485 No abstract available.
Congenital bilateral scar-like lesions on the face.
Durack A, Holden ST, Burrows NP. Durack A, et al. Among authors: holden st. Br J Dermatol. 2021 Feb;184(2):e29. doi: 10.1111/bjd.19328. Epub 2020 Jul 21. Br J Dermatol. 2021. PMID: 32696461 No abstract available.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. Among authors: holden s. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M. Soblet J, et al. Among authors: holden s. J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9. J Invest Dermatol. 2017. PMID: 27519652 Free article.
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, Dhir A, Frémond ML, Rodero MP, Seabra L, Carter E, Bodemer C, Buhas D, Callewaert B, de Lonlay P, De Somer L, Dyment DA, Faes F, Grove L, Holden S, Hully M, Kurian MA, McMillan HJ, Suetens K, Tyynismaa H, Chhun S, Wai T, Wouters C, Bader-Meunier B, Crow YJ. Lepelley A, et al. Among authors: holden s. J Exp Med. 2021 Oct 4;218(10):e20201560. doi: 10.1084/jem.20201560. Epub 2021 Aug 13. J Exp Med. 2021. PMID: 34387651 Free PMC article.
696 results