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Journal Abstract Search

167 related items for PubMed ID: 33415748

  • 21.
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  • 22. 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
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  • 23.
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  • 24. [PIK3CA-related overgrowth syndrome (PROS)].
    Venot Q, Canaud G.
    Nephrol Ther; 2017 Apr; 13 Suppl 1():S155-S156. PubMed ID: 28577738
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  • 25. Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder.
    Sarma K, Nayak MK, Mishra B, Gaikwad SB.
    Cureus; 2022 May; 14(5):e25123. PubMed ID: 35733479
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  • 28. Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.
    Luk HM, Lo IFM, Lai CWS, Yeung WL, Lam STS.
    Clin Dysmorphol; 2012 Apr; 21(2):64-68. PubMed ID: 22258436
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  • 29. [Macrocephaly-capillary malformation. A neonatal case].
    Coste K, Sarret C, Cisse A, Delabaere A, Francannet C, Vanlieferinghen P.
    Arch Pediatr; 2012 Sep; 19(9):917-20. PubMed ID: 22884750
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  • 30. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
    Tapper WJ, Foulds N, Cross NC, Aranaz P, Score J, Hidalgo-Curtis C, Robinson DO, Gibson J, Ennis S, Temple IK, Collins A.
    PLoS One; 2014 Sep; 9(1):e86940. PubMed ID: 24497998
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  • 31. The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations.
    Wright DR, Frieden IJ, Orlow SJ, Shin HT, Chamlin S, Schaffer JV, Paller AS.
    Arch Dermatol; 2009 Mar; 145(3):287-93. PubMed ID: 19289759
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  • 32.
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  • 33. Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.
    Harada A, Miya F, Utsunomiya H, Kato M, Yamanaka T, Tsunoda T, Kosaki K, Kanemura Y, Yamasaki M.
    Childs Nerv Syst; 2015 Mar; 31(3):465-71. PubMed ID: 25416470
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  • 36. 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
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  • 37. The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant.
    Berland S, Jareld J, Hickson N, Schlecht H, Houge G, Douzgou S.
    Cold Spring Harb Mol Case Stud; 2021 Dec; 7(6):. PubMed ID: 34887308
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  • 40. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
    Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB.
    Am J Med Genet A; 2009 May; 149A(5):868-76. PubMed ID: 19353582
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