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Journal Abstract Search

412 related items for PubMed ID: 28502730

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  • 25. [CLOVES syndrome: a malformational syndrome closely resembling Proteus syndrome].
    Guillet A, Aubert H, Tessier MH, David A, Perret C, Penhoat M, Stalder JF, Barbarot S.
    Ann Dermatol Venereol; 2014; 141(8-9):507-13. PubMed ID: 25209813
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  • 29. 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.
    Genet Med; 2021 Oct; 23(10):1882-1888. PubMed ID: 34040190
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  • 34. Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.
    Sasaki Y, Ishikawa K, Hatanaka KC, Oyamada Y, Sakuhara Y, Shimizu T, Saito T, Murao N, Onodera T, Miura T, Maeda T, Funayama E, Hatanaka Y, Yamamoto Y, Sasaki S.
    Orphanet J Rare Dis; 2023 Sep 04; 18(1):270. PubMed ID: 37667289
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  • 35. Phenotypic progression of skeletal anomalies in CLOVES syndrome.
    Klein S, Stroberg A, Ghahremani S, Martinez-Agosto JA.
    Am J Med Genet A; 2012 Jul 04; 158A(7):1690-5. PubMed ID: 22628280
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  • 36. What is your diagnosis?
    Panteliades M, Silva CM, Gontijo B.
    An Bras Dermatol; 2016 Jul 04; 91(3):378-80. PubMed ID: 27438212
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  • 37. Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.
    Da Costa R, De Almeida S, Chevarin M, Hadj-Rabia S, Leclerc-Mercier S, Thauvin-Robinet C, Garrido C, Faivre L, Vabres P, Duplomb L, Jego G.
    Biochem Biophys Res Commun; 2020 Sep 24; 530(3):520-526. PubMed ID: 32620236
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  • 38. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
    Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Undiagnosed Diseases Network, Lee BH, Bacino CA, Chao HT.
    Am J Med Genet A; 2019 Mar 24; 179(3):475-479. PubMed ID: 30569621
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  • 39. Overgrowth syndromes and new therapies.
    Eng W, Hammill AM, Adams DM.
    Semin Pediatr Surg; 2020 Oct 24; 29(5):150974. PubMed ID: 33069285
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  • 40. In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
    Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N.
    Neurogenetics; 2018 May 24; 19(2):77-91. PubMed ID: 29549527
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