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223 results

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Page 1
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.
Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. Polubothu S, et al. Among authors: cottrell c. J Invest Dermatol. 2023 Jun;143(6):1042-1051.e3. doi: 10.1016/j.jid.2022.09.661. Epub 2022 Dec 23. J Invest Dermatol. 2023. PMID: 36566878 Free PMC article.
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.
Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA. Siegel DH, et al. Among authors: cottrell ce. J Invest Dermatol. 2018 Apr;138(4):957-967. doi: 10.1016/j.jid.2017.10.033. Epub 2017 Nov 22. J Invest Dermatol. 2018. PMID: 29174369 Free article.
Scarring in Patients With PIK3CA-Related Overgrowth Syndromes.
Steiner JE, Cottrell CE, Streicher JL, Jensen JN, King DM, Burrows PE, Siegel DH, Tollefson MM, Drolet BA, Püttgen KB. Steiner JE, et al. JAMA Dermatol. 2018 Apr 1;154(4):452-455. doi: 10.1001/jamadermatol.2017.6189. JAMA Dermatol. 2018. PMID: 29516089 Free PMC article.
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Cottrell CE, et al. Genet Med. 2021 Oct;23(10):1882-1888. doi: 10.1038/s41436-021-01211-z. Epub 2021 May 26. Genet Med. 2021. PMID: 34040190 Free PMC article.
Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies.
Davies OMT, Garzon MC, Frieden IJ, Cottrell CE, Gripp KW, Saneto RP, Shwayder T, Mirzaa GM, Drolet BA. Davies OMT, et al. Among authors: cottrell ce. J Am Acad Dermatol. 2022 Jul;87(1):162-164. doi: 10.1016/j.jaad.2021.06.877. Epub 2021 Jul 6. J Am Acad Dermatol. 2022. PMID: 34237354 Free PMC article. No abstract available.
KRIT1-positive hyperkeratotic cutaneous capillary venous malformation.
Matarneh B, Cottrell CE, Choi S, Pearson G, Fung B, Koo SC, Lillis AP, Ho ML, Fernandez Faith E. Matarneh B, et al. Among authors: cottrell ce. Pediatr Dermatol. 2022 Mar;39(2):250-254. doi: 10.1111/pde.14900. Epub 2021 Dec 28. Pediatr Dermatol. 2022. PMID: 34964173
223 results