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Management of head and neck lymphatic malformations.
Balakrishnan K, Perkins J. Balakrishnan K, et al. Among authors: perkins j. Facial Plast Surg. 2012 Dec;28(6):596-602. doi: 10.1055/s-0032-1329934. Epub 2012 Nov 27. Facial Plast Surg. 2012. PMID: 23188687 Review.
Lymphatic malformations.
Manning SC, Perkins J. Manning SC, et al. Among authors: perkins j. Curr Opin Otolaryngol Head Neck Surg. 2013 Dec;21(6):571-5. doi: 10.1097/MOO.0000000000000007. Curr Opin Otolaryngol Head Neck Surg. 2013. PMID: 24157637 Review.
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
Piacitelli AM, Jensen DM, Brandling-Bennett H, Gray MM, Batra M, Gust J, Thaker A, Paschal C, Tsuchiya K, Pritchard CC, Perkins J, Mirzaa GM, Bennett JT. Piacitelli AM, et al. Among authors: perkins j. Am J Med Genet A. 2018 Nov;176(11):2301-2308. doi: 10.1002/ajmg.a.40487. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063105 Free PMC article.
Medical Management of Vascular Anomalies.
Padia R, Bly R, Bull C, Geddis AE, Perkins J. Padia R, et al. Among authors: perkins j. Curr Treat Options Pediatr. 2018 Jun;4(2):221-236. doi: 10.1007/s40746-018-0130-3. Epub 2018 Apr 27. Curr Treat Options Pediatr. 2018. PMID: 30505648 Free PMC article.
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
Wenger TL, Perkins J, Parish-Morris J, Hing AV, Chen ML, Cielo CM, Li D, Bhoj EJ, Hakonarson H, Zackai E, McDonald-McGinn DM, Taylor JA, Jackson O, Sie K, Bly R, Dahl J, Evans KN. Wenger TL, et al. Among authors: perkins j. Am J Med Genet A. 2021 Dec;185(12):3694-3700. doi: 10.1002/ajmg.a.62430. Epub 2021 Jul 22. Am J Med Genet A. 2021. PMID: 34291880
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.
Sheppard SE, Sanders VR, Srinivasan A, Finn LS, Adams D, Elton A, Amlie-Lefond C, Nelson Z, Dmyterko V, Jensen D, Zenner K, Perkins J, Bennett JT. Sheppard SE, et al. Among authors: perkins j. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006147. doi: 10.1101/mcs.a006147. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34887309 Free PMC article.
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 jn, 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 PMC 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 jn, 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.
1,741 results