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Journal Abstract Search

177 related items for PubMed ID: 29446767

  • 1. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
    Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V.
    Genet Med; 2018 Aug; 20(8):882-889. PubMed ID: 29446767
    [Abstract] [Full Text] [Related]

  • 2. Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome.
    Downey C, López-Gutiérrez JC, Roé-Crespo E, Puig L, Baselga E.
    Pediatr Dermatol; 2018 Jul; 35(4):e243-e244. PubMed ID: 29766551
    [Abstract] [Full Text] [Related]

  • 3. CLAPO syndrome: Effective response to treatment with oral rapamycin.
    González-Hermosa MR, Guerra E, Tuduri I, Vicente I, López-Almaraz R.
    Dermatol Ther; 2019 Jul; 32(4):e12991. PubMed ID: 31172613
    [Abstract] [Full Text] [Related]

  • 4. 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; 166(4):1048-54.e1-5. PubMed ID: 25681199
    [Abstract] [Full Text] [Related]

  • 5. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
    Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM, Geer J, Henderson A, Semple RK, Biesecker LG.
    Am J Med Genet A; 2014 Jul; 164A(7):1713-33. PubMed ID: 24782230
    [Abstract] [Full Text] [Related]

  • 6. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
    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 16; 1(9):. PubMed ID: 27631024
    [Abstract] [Full Text] [Related]

  • 7. Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
    de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C, Care4Rare Canada ConsortiumChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Kernohan KD, Boycott KM.
    Am J Med Genet A; 2024 Mar 16; 194(3):e63466. PubMed ID: 37949664
    [Abstract] [Full Text] [Related]

  • 8. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.
    Macmurdo CF, Wooderchak-Donahue W, Bayrak-Toydemir P, Le J, Wallenstein MB, Milla C, Teng JM, Bernstein JA, Stevenson DA.
    Am J Med Genet A; 2016 Jun 16; 170(6):1450-4. PubMed ID: 26969842
    [Abstract] [Full Text] [Related]

  • 9. Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.
    Rasmussen M, Sunde L, Weigert KP, Bogaard PW, Lildballe DL.
    Am J Med Genet A; 2014 May 16; 164A(5):1318-21. PubMed ID: 24665065
    [Abstract] [Full Text] [Related]

  • 10. Capillary Malformation in CLAPO Syndrome Successfully Treated with Pulsed Dye Laser.
    Cerejeira D, Vergara-de-la-Campa L, Boixeda P, López-Gutiérrez JC.
    Actas Dermosifiliogr; 2022 May 16; 113(5):505-509. PubMed ID: 35292145
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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.
    Am J Med Genet A; 2018 Nov 12; 176(11):2301-2308. PubMed ID: 30063105
    [Abstract] [Full Text] [Related]

  • 13. Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
    Yeung KS, Ip JJ, Chow CP, Kuong EY, Tam PK, Chan GC, Chung BH.
    Am J Med Genet A; 2017 Apr 12; 173(4):978-984. PubMed ID: 28328134
    [Abstract] [Full Text] [Related]

  • 14. Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
    Gökpınar İli E, Taşdelen E, Durmaz CD, Altıner Ş, Tuncalı T, Martinez-Glez V, Karabulut HG, Vural S, Ceylaner S, Acar MO, Ilgın Ruhi H.
    Am J Med Genet A; 2022 Jun 12; 188(6):1792-1800. PubMed ID: 35238469
    [Abstract] [Full Text] [Related]

  • 15. Clinical overlap between CLAPO syndrome and macrocephaly-capillary malformation syndrome.
    Ivars M, Boixeda P, Triana P, Martinez-Glez V, Rodríguez-Laguna L, Agra N, López-Gutiérrez JC.
    J Dtsch Dermatol Ges; 2020 May 12; 18(5):479-482. PubMed ID: 32413215
    [No Abstract] [Full Text] [Related]

  • 16. Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.
    Quindipan C, Cotter JA, Ji J, Mitchell WG, Moke DJ, Navid F, Thomas SM, VanHirtum-Das M, Wang L, Saitta SC, Biegel JA, Hiemenz MC.
    Pediatr Neurol; 2021 Jan 12; 114():55-59. PubMed ID: 33221597
    [Abstract] [Full Text] [Related]

  • 17. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
    Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB.
    Genet Med; 2017 Sep 12; 19(9):989-997. PubMed ID: 28151489
    [Abstract] [Full Text] [Related]

  • 18. 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]

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  • 20. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.
    Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE.
    Clin Genet; 2017 Jan 10; 91(1):79-85. PubMed ID: 27307077
    [Abstract] [Full Text] [Related]

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