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Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR, D'Alessandro M, Merriman B, Lee H, Szeverényi I, Avery S, O'Connor BD, Nelson SF, Coats SE, Stewart A, Christie L, Pichert G, Friedel J, Hayes I, Burrows N, Whittaker S, Gerdes AM, Broesby-Olsen S, Ferguson-Smith MA, Verma C, Lunny DP, Reversade B, Lane EB. Goudie DR, et al. Nat Genet. 2011 Feb 27;43(4):365-9. doi: 10.1038/ng.780. Nat Genet. 2011. PMID: 21358634
Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?
D'Alessandro M, Coats SE, Morley SM, Mackintosh L, Tessari G, Turco A, Gerdes AM, Pichert G, Whittaker S, Brandrup F, Broesby-Olsen S, Gomez-Lira M, Girolomoni G, Maize JC, Feldman RJ, Kato N, Koga Y, Ferguson-Smith MA, Goudie DR, Lane EB. D'Alessandro M, et al. J Invest Dermatol. 2007 Oct;127(10):2336-44. doi: 10.1038/sj.jid.5700914. Epub 2007 Jun 7. J Invest Dermatol. 2007. PMID: 17554363 Free article.
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.
Galatà G, García-Montero AC, Kristensen T, Dawoud AAZ, Muñoz-González JI, Meggendorfer M, Guglielmelli P, Hoade Y, Alvarez-Twose I, Gieger C, Strauch K, Ferrucci L, Tanaka T, Bandinelli S, Schnurr TM, Haferlach T, Broesby-Olsen S, Vestergaard H, Møller MB, Bindslev-Jensen C, Vannucchi AM, Orfao A, Radia D, Reiter A, Chase AJ, Cross NCP, Tapper WJ. Galatà G, et al. Am J Hum Genet. 2021 Feb 4;108(2):284-294. doi: 10.1016/j.ajhg.2020.12.007. Epub 2021 Jan 8. Am J Hum Genet. 2021. PMID: 33421400 Free PMC article.
Definition, aims, and implementation of GA2 LEN/HAEi Angioedema Centers of Reference and Excellence.
Maurer M, Aberer W, Agondi R, Al-Ahmad M, Al-Nesf MA, Ansotegui I, Arnaout R, Arruda LK, Asero R, Aygören-Pürsün E, Banerji A, Bauer A, Ben-Shoshan M, Berardi A, Bernstein JA, Betschel S, Bindslev-Jensen C, Bizjak M, Boccon-Gibod I, Bork K, Bouillet L, Boysen HB, Brodszki N, Broesby-Olsen S, Busse P, Buttgereit T, Bygum A, Caballero T, Campos RA, Cancian M, Cherrez-Ojeda I, Cohn DM, Costa C, Craig T, Criado PR, Criado RF, Csuka D, Dissemond J, Du-Thanh A, Ensina LF, Ertaş R, Fabiani JE, Fantini C, Farkas H, Ferrucci SM, Figueras-Nart I, Fili NL, Fomina D, Fukunaga A, Gelincik A, Giménez-Arnau A, Godse K, Gompels M, Gonçalo M, Gotua M, Gower R, Grumach AS, Guidos-Fogelbach G, Hide M, Ilina N, Inomata N, Jakob T, Josviack DO, Kang HR, Kaplan A, Kasperska-Zając A, Katelaris C, Kessel A, Kleinheinz A, Kocatürk E, Košnik M, Krasowska D, Kulthanan K, Kumaran MS, Larco Sousa JI, Longhurst HJ, Lumry W, MacGinnitie A, Magerl M, Makris MP, Malbrán A, Marsland A, Martinez-Saguer I, Medina IV, Meshkova R, Metz M, Nasr I, Nicolay J, Nishigori C, Ohsawa I, Özyurt K, Papadopoulos NG, Parisi CAS, Peter JG, Pfützner W, Popov T, Prior N, Ramon GD, Reich A, Reshef A, Riedl MA, Ritchie B, Röckmann-He… See abstract for full author list ➔ Maurer M, et al. Allergy. 2020 Aug;75(8):2115-2123. doi: 10.1111/all.14293. Epub 2020 Apr 27. Allergy. 2020. PMID: 32248571 Free article. No abstract available.
Multidisciplinary Management of Mastocytosis: Nordic Expert Group Consensus.
Broesby-Olsen S, Dybedal I, Gülen T, Kristensen TK, Møller MB, Ackermann L, Sääf M, Karlsson MA, Agertoft L, Brixen K, Hermann P, Stylianou E, Mortz CG, Torfing T, Havelund T, Sander B, Bergström A, Bendix M, Garvey LH, Bjerrum OW, Valent P, Bindslev-Jensen C, Nilsson G, Vestergaard H, Hägglund H. Broesby-Olsen S, et al. Acta Derm Venereol. 2016 Jun 15;96(5):602-12. doi: 10.2340/00015555-2325. Acta Derm Venereol. 2016. PMID: 26694951 Free article.
[Mastocytosis].
Broesby-Olsen S, Kristensen TK, Agertoft L, Møller MB, Hermann AP, Torfing T, Havelund T, Mørtz CG, Bindslev-Jensen C, Vestergaard H. Broesby-Olsen S, et al. Ugeskr Laeger. 2016 Feb 15;178(7):V10150854. Ugeskr Laeger. 2016. PMID: 27063008 Free article. Review. Danish.
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