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Journal Abstract Search

375 related items for PubMed ID: 29493003

  • 41. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
    Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Van Kien PK, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L.
    Clin Genet; 2021 May; 99(5):650-661. PubMed ID: 33415748
    [Abstract] [Full Text] [Related]

  • 42. Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.
    McDermott JH, Byers H, Clayton-Smith J.
    Clin Dysmorphol; 2016 Jan; 25(1):16-8. PubMed ID: 26351730
    [Abstract] [Full Text] [Related]

  • 43. 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; 19(2):77-91. PubMed ID: 29549527
    [Abstract] [Full Text] [Related]

  • 44. Combined endovascular and microsurgical treatment of a complex spinal arteriovenous fistula associated with CLOVES syndrome in an adult patient.
    Boroumand MR, Kalani MY, Spetzler RF.
    J Clin Neurosci; 2016 Dec; 34():232-234. PubMed ID: 27729180
    [Abstract] [Full Text] [Related]

  • 45. PIK3CA-related overgrowth with an uncommon phenotype: case report.
    Rotunno R, Diociaiuti A, Pisaneschi E, Carnevale C, Dentici M, El Hachem M.
    Ital J Pediatr; 2022 May 12; 48(1):71. PubMed ID: 35551640
    [Abstract] [Full Text] [Related]

  • 46. CLOVES Syndrome Diagnosis and Treatment in an Adult Patient.
    Ferreira J, Gutiérrez JCL, Carneiro A, Araújo A, Sousa PP, Braga S, Simões JC, Carrilho C, Mesquita A.
    Ann Vasc Surg; 2021 Aug 12; 75():533.e5-533.e9. PubMed ID: 33905855
    [Abstract] [Full Text] [Related]

  • 47. Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
    Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G.
    Nature; 2018 Jun 12; 558(7711):540-546. PubMed ID: 29899452
    [Abstract] [Full Text] [Related]

  • 48.
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  • 49. Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum.
    Garreta Fontelles G, Pardo Pastor J, Grande Moreillo C.
    Br J Clin Pharmacol; 2022 Aug 12; 88(8):3891-3895. PubMed ID: 35146800
    [Abstract] [Full Text] [Related]

  • 50. Vascular malformations syndromes: an update.
    Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S.
    Curr Opin Pediatr; 2019 Dec 12; 31(6):747-753. PubMed ID: 31693582
    [Abstract] [Full Text] [Related]

  • 51. Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
    Brouillard P, Schlögel MJ, Homayun Sepehr N, Helaers R, Queisser A, Fastré E, Boutry S, Schmitz S, Clapuyt P, Hammer F, Dompmartin A, Weitz-Tuoretmaa A, Laranne J, Pasquesoone L, Vilain C, Boon LM, Vikkula M.
    Orphanet J Rare Dis; 2021 Jun 10; 16(1):267. PubMed ID: 34112235
    [Abstract] [Full Text] [Related]

  • 52. 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
    [Abstract] [Full Text] [Related]

  • 53. 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.
    Cold Spring Harb Mol Case Stud; 2021 Dec 24; 7(6):. PubMed ID: 34887309
    [Abstract] [Full Text] [Related]

  • 54. 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 10; 15(1):205. PubMed ID: 32778138
    [Abstract] [Full Text] [Related]

  • 55. Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
    Al-Qattan MM, Hadadi A, Al-Thunayan AM, Eldali AA, AlBalwi MA.
    BMC Med Genet; 2018 Sep 04; 19(1):158. PubMed ID: 30180809
    [Abstract] [Full Text] [Related]

  • 56. Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants.
    Goss JA, Konczyk DJ, Smits P, Sudduth CL, Bischoff J, Liang MG, Greene AK.
    Clin Genet; 2020 May 04; 97(5):736-740. PubMed ID: 31909475
    [Abstract] [Full Text] [Related]

  • 57. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
    Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R.
    J Pediatr; 2015 Apr 04; 166(4):1048-54.e1-5. PubMed ID: 25681199
    [Abstract] [Full Text] [Related]

  • 58. CLOVE syndrome with nevus unis lateris: report of a case.
    Harit D, Aggarwal A.
    Pediatr Dermatol; 2010 Apr 04; 27(3):311-2. PubMed ID: 20609160
    [Abstract] [Full Text] [Related]

  • 59. Overgrowth syndromes and new therapies.
    Eng W, Hammill AM, Adams DM.
    Semin Pediatr Surg; 2020 Oct 04; 29(5):150974. PubMed ID: 33069285
    [Abstract] [Full Text] [Related]

  • 60. Sparing of the nipple-areola complex by capillary malformations: Vascular variant of the Bork-Baykal phenomenon.
    Knöpfel N, Theiler M, Rodríguez-Jiménez P, Happle R, Weibel L, Torrelo A.
    Pediatr Dermatol; 2019 Jul 04; 36(4):558-560. PubMed ID: 30989705
    [Abstract] [Full Text] [Related]

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