BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

251 related articles for article (PubMed ID: 24939587)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the
    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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
    Rivière JB; Mirzaa GM; O'Roak BJ; Beddaoui M; Alcantara D; Conway RL; St-Onge J; Schwartzentruber JA; Gripp KW; Nikkel SM; Worthylake T; Sullivan CT; Ward TR; Butler HE; Kramer NA; Albrecht B; Armour CM; Armstrong L; Caluseriu O; Cytrynbaum C; Drolet BA; Innes AM; Lauzon JL; Lin AE; Mancini GM; Meschino WS; Reggin JD; Saggar AK; Lerman-Sagie T; Uyanik G; Weksberg R; Zirn B; Beaulieu CL; ; Majewski J; Bulman DE; O'Driscoll M; Shendure J; Graham JM; Boycott KM; Dobyns WB
    Nat Genet; 2012 Jun; 44(8):934-40. PubMed ID: 22729224
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 9(1):e86940. PubMed ID: 24497998
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
    Mirzaa GM; Rivière JB; Dobyns WB
    Am J Med Genet C Semin Med Genet; 2013 May; 163C(2):122-30. PubMed ID: 23592320
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 44(1):110. PubMed ID: 30231930
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; ; Kernohan KD; Boycott KM
    Am J Med Genet A; 2024 Mar; 194(3):e63466. PubMed ID: 37949664
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 15(1):205. PubMed ID: 32778138
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.
    Zollino M; Ranieri C; Grossi V; Leoni C; Lattante S; Mazzà D; Simone C; Resta N
    Mol Genet Genomic Med; 2019 Aug; 7(8):e845. PubMed ID: 31290289
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
    Negishi Y; Miya F; Hattori A; Johmura Y; Nakagawa M; Ando N; Hori I; Togawa T; Aoyama K; Ohashi K; Fukumura S; Mizuno S; Umemura A; Kishimoto Y; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Nakanishi M; Saitoh S
    BMC Med Genet; 2017 Jan; 18(1):4. PubMed ID: 28086757
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
    Szalai R; Melegh BI; Till A; Ripszam R; Csabi G; Acharya A; Schrauwen I; Leal SM; Komoly S; Kosztolanyi G; Hadzsiev K
    Exp Mol Pathol; 2020 Aug; 115():104471. PubMed ID: 32446860
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.
    Segal D; Heary RF; Sabharwal S; Barry MT; Ming X
    J Neurosurg Pediatr; 2016 Jul; 18(1):79-82. PubMed ID: 27035547
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 152A(12):3101-6. PubMed ID: 21077203
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP).
    St John LJ; Rao N
    BMJ Case Rep; 2021 Dec; 14(12):. PubMed ID: 34969807
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 18(5):479-482. PubMed ID: 32413215
    [No Abstract]   [Full Text] [Related]  

  • 20. 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
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 13.