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Journal Abstract Search

93 related items for PubMed ID: 26351730

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  • 2. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
    Döcker D, Schubach M, Menzel M, Spaich C, Gabriel HD, Zenker M, Bartholdi D, Biskup S.
    Eur J Hum Genet; 2015 Mar; 23(3):409-12. PubMed ID: 24939587
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  • 3. The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
    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
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  • 4. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
    Denorme P, Morren MA, Hollants S, Spaepen M, Suaer K, Zutterman N, Labarque V, Legius E, Brems H.
    Pediatr Dermatol; 2018 May; 35(3):e186-e188. PubMed ID: 29493003
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  • 5. 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; 194(3):e63466. PubMed ID: 37949664
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  • 6. 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; 188(6):1792-1800. PubMed ID: 35238469
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  • 7. 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 Jun; 9(1):e86940. PubMed ID: 24497998
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  • 11. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.
    Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
    Clin Genet; 2014 Apr; 85(4):396-8. PubMed ID: 23745724
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  • 13. 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
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  • 14. Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.
    Martínez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, González-Meneses A, López-Gutierrez JC, Gean E, Martorell L, Lapunzina P.
    Am J Med Genet A; 2010 Dec 12; 152A(12):3101-6. PubMed ID: 21077203
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  • 15. 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
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  • 16. Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.
    Maguolo A, Antoniazzi F, Spano A, Fiorini E, Gaudino R, Mauro M, Cantalupo G, Biban P, Maitz S, Cavarzere P.
    Ital J Pediatr; 2018 Sep 19; 44(1):110. PubMed ID: 30231930
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  • 17. Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis.
    Fortin O, Ashour M, Lacroix C, Sabapathy CA, Myers KA.
    Can J Neurol Sci; 2020 Nov 19; 47(6):828-829. PubMed ID: 32631464
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  • 19. Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.
    Dexheimer J, Mirzaa GM.
    Adv Ther; 2022 Sep 19; 39(9):3871-3880. PubMed ID: 35857185
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