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145 results

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ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.
Li D, March ME, Gutierrez-Uzquiza A, Kao C, Seiler C, Pinto E, Matsuoka LS, Battig MR, Bhoj EJ, Wenger TL, Tian L, Robinson N, Wang T, Liu Y, Weinstein BM, Swift M, Jung HM, Kaminski CN, Chiavacci R, Perkins JA, Levine MA, Sleiman PMA, Hicks PJ, Strausbaugh JT, Belasco JB, Dori Y, Hakonarson H. Li D, et al. Among authors: perkins ja. Nat Med. 2019 Jul;25(7):1116-1122. doi: 10.1038/s41591-019-0479-2. Epub 2019 Jul 1. Nat Med. 2019. PMID: 31263281
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H. Li D, et al. Among authors: perkins ja. Hum Mol Genet. 2018 Sep 15;27(18):3233-3245. doi: 10.1093/hmg/ddy218. Hum Mol Genet. 2018. PMID: 29905864 Free PMC article.
Catel-Manzke syndrome without Manzke dysostosis.
Miller DE, Chow P, Gallagher ER, Perkins JA, Wenger TL. Miller DE, et al. Among authors: perkins ja. Am J Med Genet A. 2020 Mar;182(3):437-440. doi: 10.1002/ajmg.a.61436. Epub 2019 Dec 12. Am J Med Genet A. 2020. PMID: 31833187
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB. Wenger TL, et al. Among authors: perkins ja. Am J Med Genet A. 2020 Jul;182(7):1576-1591. doi: 10.1002/ajmg.a.61615. Epub 2020 Jun 5. Am J Med Genet A. 2020. PMID: 32500973
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.
Wenger TL, Ganti S, Bull C, Lutsky E, Bennett JT, Zenner K, Jensen DM, Dmyterko V, Mercan E, Shivaram GM, Friedman SD, Bindschadler M, Drusin M, Perkins JN, Kong A, Bly RA, Dahl JP, Bonilla-Velez J, Perkins JA. Wenger TL, et al. Among authors: perkins ja. Genet Med. 2022 Nov;24(11):2318-2328. doi: 10.1016/j.gim.2022.07.026. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066547 Free article.
Primary targeted medical therapy for management of bilateral head and neck lymphatic malformations in infants.
Richardson CM, Perkins JN, Zenner K, Bull C, Lutsky E, Jensen DM, Dmyterko V, Bennett JT, Wenger TL, Dahl JP, Bonilla-Velez J, Bly RA, Geddis AE, Perkins JA. Richardson CM, et al. Among authors: perkins ja. Int J Pediatr Otorhinolaryngol. 2023 Jan;164:111371. doi: 10.1016/j.ijporl.2022.111371. Epub 2022 Nov 15. Int J Pediatr Otorhinolaryngol. 2023. PMID: 36459725 Free PMC article.
Clinical application of molecular genetics in lymphatic malformations.
Padia R, Zenner K, Bly R, Bennett J, Bull C, Perkins J. Padia R, et al. Laryngoscope Investig Otolaryngol. 2019 Jan 12;4(1):170-173. doi: 10.1002/lio2.241. eCollection 2019 Feb. Laryngoscope Investig Otolaryngol. 2019. PMID: 30847392 Free PMC article. Review.
Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations.
Bonilla-Velez J, Whitlock KB, Ganti S, Zenner K, Cheng CV, Jensen DM, Pham MM, Mitchell RM, Dobyns W, Bly RA, Bennett JT, Dahl JP, Perkins JA. Bonilla-Velez J, et al. Among authors: perkins ja. Int J Pediatr Otorhinolaryngol. 2021 Dec;151:110869. doi: 10.1016/j.ijporl.2021.110869. Epub 2021 Aug 5. Int J Pediatr Otorhinolaryngol. 2021. PMID: 34537546 Free PMC article.
145 results