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216 results

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Page 1
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. Rivière JB, et al. Among authors: drolet ba. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Nat Genet. 2012. PMID: 22729224 Free PMC article.
X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome.
Sullivan CT, Christian SL, Shieh JT, Metry D, Blei F, Krol A, Drolet BA, Frieden IJ, Dobyns WB, Siegel DH. Sullivan CT, et al. Among authors: drolet ba. Mol Syndromol. 2013 Mar;4(3):114-8. doi: 10.1159/000343489. Epub 2012 Nov 16. Mol Syndromol. 2013. PMID: 23653582 Free PMC 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. Among authors: drolet ba. 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. Among authors: drolet ba. 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: drolet ba. 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.
Copy number variation analysis in 98 individuals with PHACE syndrome.
Siegel DH, Shieh JTC, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U. Siegel DH, et al. Among authors: drolet ba. J Invest Dermatol. 2013 Mar;133(3):677-684. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25. J Invest Dermatol. 2013. PMID: 23096700 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: drolet ba. 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.
Response to sirolimus in capillary lymphatic venous malformations and associated syndromes: Impact on symptomatology, quality of life, and radiographic response.
Engel ER, Hammill A, Adams D, Phillips RJ, Jeng M, Tollefson MM, Iacobas I, Schiff D, Greenberger S, Kelly M, Frieden I, Zaghloul N, Drolet B, Geddis A, Goldenberg D, Ricci K. Engel ER, et al. Pediatr Blood Cancer. 2023 Apr;70(4):e30215. doi: 10.1002/pbc.30215. Epub 2023 Jan 18. Pediatr Blood Cancer. 2023. PMID: 36651691
216 results