These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
43. Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations. Park HJ; Shin CH; Yoo WJ; Cho TJ; Kim MJ; Seong MW; Park SS; Lee JH; Sim NS; Ko JM Orphanet J Rare Dis; 2020 Aug; 15(1):205. PubMed ID: 32778138 [TBL] [Abstract][Full Text] [Related]
44. A case of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome with lipoatrophy as an important clinical manifestation. Schreiber A; Grenier PO; Auger I Pediatr Dermatol; 2017 Nov; 34(6):735-736. PubMed ID: 28833506 [TBL] [Abstract][Full Text] [Related]
45. Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. De Graer C; Marangoni M; Romnée S; Delaunoy M; Zaytouni S; D'Haene N; Désir J; Donner C Eur J Med Genet; 2020 Apr; 63(4):103775. PubMed ID: 31568861 [TBL] [Abstract][Full Text] [Related]
46. Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome. Keppler-Noreuil KM; Lozier J; Oden N; Taneja A; Burton-Akright J; Sapp JC; Biesecker LG Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):571-581. PubMed ID: 31490637 [TBL] [Abstract][Full Text] [Related]
47. Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach. Rodríguez-Laguna L; Davis K; Finger M; Aubel D; Vlamis R; Johnson C Orphanet J Rare Dis; 2022 May; 17(1):189. PubMed ID: 35526022 [TBL] [Abstract][Full Text] [Related]
48. Molecular analysis of a uterine broad ligament leiomyoma in a patient with CLOVES syndrome. Karpathiou G; Chauleur C; Picot T; Peoc'h M Pathol Res Pract; 2020 Dec; 216(12):153285. PubMed ID: 33190013 [TBL] [Abstract][Full Text] [Related]
49. Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome. Kuentz P; Engel C; Laeng M; Chevarin M; Duffourd Y; Martel J; Piard J; Morice-Picard F; Aubert H; Bessis D; Guerrot AM; Maruani A; Boccara O; Mazereeuw-Hautier J; Ott H; Phan A; Puzenat E; Quelin C; Thauvin-Robinet C; Faivre L; Vabres P Br J Dermatol; 2024 Jul; 191(2):303-305. PubMed ID: 38623710 [No Abstract] [Full Text] [Related]
50. Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum. Carli D; Kalantari S; Manicone R; Coppo P; Francia di Celle P; La Selva R; Santoro F; Ranieri C; Cardaropoli S; Fagioli F; Ferrero GB; Resta N; Mussa A Clin Genet; 2021 Nov; 100(5):624-627. PubMed ID: 34402524 [TBL] [Abstract][Full Text] [Related]
51. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Mussa A; Leoni C; Iacoviello M; Carli D; Ranieri C; Pantaleo A; Buonuomo PS; Bagnulo R; Ferrero GB; Bartuli A; Melis D; Maitz S; Loconte DC; Turchiano A; Piglionica M; De Luisi A; Susca FC; Bukvic N; Forleo C; Selicorni A; Zampino G; Onesimo R; Cappuccio G; Garavelli L; Novelli C; Memo L; Morando C; Della Monica M; Accadia M; Capurso M; Piscopo C; Cereda A; Di Giacomo MC; Saletti V; Spinelli AM; Lastella P; Tenconi R; Dvorakova V; Irvine AD; Resta N J Med Genet; 2023 Feb; 60(2):163-173. PubMed ID: 35256403 [TBL] [Abstract][Full Text] [Related]
52. The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the Chen WL; Pao E; Owens J; Glass I; Pritchard C; Shirts BH; Lockwood C; Mirzaa GM Cold Spring Harb Mol Case Stud; 2022 Apr; 8(3):. PubMed ID: 35483878 [TBL] [Abstract][Full Text] [Related]
53. The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS). Suzuki Y; Enokido Y; Yamada K; Inaba M; Kuwata K; Hanada N; Morishita T; Mizuno S; Wakamatsu N Oncotarget; 2017 Jul; 8(28):45470-45483. PubMed ID: 28525374 [TBL] [Abstract][Full Text] [Related]
54. Mirzaa G; Timms AE; Conti V; Boyle EA; Girisha KM; Martin B; Kircher M; Olds C; Juusola J; Collins S; Park K; Carter M; Glass I; Krägeloh-Mann I; Chitayat D; Parikh AS; Bradshaw R; Torti E; Braddock S; Burke L; Ghedia S; Stephan M; Stewart F; Prasad C; Napier M; Saitta S; Straussberg R; Gabbett M; O'Connor BC; Keegan CE; Yin LJ; Lai AHM; Martin N; McKinnon M; Addor MC; Boccuto L; Schwartz CE; Lanoel A; Conway RL; Devriendt K; Tatton-Brown K; Pierpont ME; Painter M; Worgan L; Reggin J; Hennekam R; Tsuchiya K; Pritchard CC; Aracena M; Gripp KW; Cordisco M; Van Esch H; Garavelli L; Curry C; Goriely A; Kayserilli H; Shendure J; Graham J; Guerrini R; Dobyns WB JCI Insight; 2016 Jun; 1(9):. PubMed ID: 27631024 [TBL] [Abstract][Full Text] [Related]
55. Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations. Schmidt VF; Wieland I; Wohlgemuth WA; Ricke J; Wildgruber M; Zenker M Am J Med Genet A; 2021 Oct; 185(10):3122-3128. PubMed ID: 34114335 [TBL] [Abstract][Full Text] [Related]
56. A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. Canaud G; Hammill AM; Adams D; Vikkula M; Keppler-Noreuil KM Orphanet J Rare Dis; 2021 Jul; 16(1):306. PubMed ID: 34238334 [TBL] [Abstract][Full Text] [Related]
57. Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders. Mills JR; Moyer AM; Kipp BR; Poplawski AB; Messiaen LM; Babovic-Vuksanovic D Clin Genet; 2018 Jan; 93(1):187-190. PubMed ID: 28737257 [TBL] [Abstract][Full Text] [Related]
58. Alpelisib (Vijoice) for PIK3CA-related overgrowth spectrum. Med Lett Drugs Ther; 2022 Nov; 64(1663):e186-e187. PubMed ID: 36384765 [No Abstract] [Full Text] [Related]
59. Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases. Ten Broek RW; Eijkelenboom A; van der Vleuten CJM; Kamping EJ; Kets M; Verhoeven BH; Grünberg K; Schultze Kool LJ; Tops BBJ; Ligtenberg MJL; Flucke U Genes Chromosomes Cancer; 2019 Aug; 58(8):541-550. PubMed ID: 30677207 [TBL] [Abstract][Full Text] [Related]