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227 results

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Page 1
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. Li D, et al. Among authors: adams dm. Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1. Nat Med. 2023. PMID: 37264205
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL. Byrne AB, et al. Among authors: adams dm. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. Sci Transl Med. 2022. PMID: 35235341
Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment.
McDaniel CG, Adams DM, Steele KE, Hammill AM, Merrow AC, Crane JL, Smith CL, Kozakewich HPW, Le Cras TD. McDaniel CG, et al. Among authors: adams dm. Pediatr Blood Cancer. 2023 Apr;70(4):e30219. doi: 10.1002/pbc.30219. Epub 2023 Jan 22. Pediatr Blood Cancer. 2023. PMID: 36683202 Free PMC article. Review.
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
Grenier JM, Borst AJ, Sheppard SE, Snyder KM, Li D, Surrey LF, Al-Ibraheemi A, Weber DR, Treat JR, Smith CL, Laje P, Dori Y, Adams DM, Acord M, Srinivasan AS. Grenier JM, et al. Among authors: adams dm. Pediatr Blood Cancer. 2023 May 17:e30419. doi: 10.1002/pbc.30419. Online ahead of print. Pediatr Blood Cancer. 2023. PMID: 37194624
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O'Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Snyder KM, Sheppard SE. Nriagu BN, et al. Among authors: adams dm. Am J Med Genet A. 2024 Jan;194(1):64-69. doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13. Am J Med Genet A. 2024. PMID: 37705207 Free PMC article.
Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS).
Canaud G, Lopez Gutierrez JC, Irvine AD, Vabres P, Hansford JR, Ankrah N, Branle F, Papadimitriou A, Ridolfi A, O'Connell P, Turner S, Adams DM. Canaud G, et al. Among authors: adams dm. Genet Med. 2023 Dec;25(12):100969. doi: 10.1016/j.gim.2023.100969. Epub 2023 Aug 24. Genet Med. 2023. PMID: 37634128
227 results