BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 23436452)

  • 1. High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.
    Wieland I; Tinschert S; Zenker M
    Am J Med Genet A; 2013 Apr; 161A(4):889-91. PubMed ID: 23436452
    [No Abstract]   [Full Text] [Related]  

  • 2. AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome.
    Lindhurst MJ; Wang JA; Bloomhardt HM; Witkowski AM; Singh LN; Bick DP; Gambello MJ; Powell CM; Lee CR; Darling TN; Biesecker LG
    J Invest Dermatol; 2014 Feb; 134(2):543-546. PubMed ID: 23884311
    [No Abstract]   [Full Text] [Related]  

  • 3. A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.
    Wee JS; Mortimer PS; Lindhurst MJ; Chong H; Biesecker LG; Holden CA
    JAMA Dermatol; 2014 Sep; 150(9):990-3. PubMed ID: 24850616
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.
    Pithadia DJ; Roman JW; Sapp JC; Biesecker LG; Darling TN
    J Am Acad Dermatol; 2021 Feb; 84(2):415-424. PubMed ID: 32035943
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.
    Keppler-Noreuil KM; Burton-Akright J; Lindhurst MJ; Shwetar J; Sapp JC; Darling T; Biesecker LG
    Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31371346
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Proteus syndrome: an update.
    Cohen MM
    Am J Med Genet C Semin Med Genet; 2005 Aug; 137C(1):38-52. PubMed ID: 16010681
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome.
    Polubothu S; Al-Olabi L; Wilson L; Chong WK; Kinsler VA
    Br J Dermatol; 2016 Sep; 175(3):612-4. PubMed ID: 26872686
    [No Abstract]   [Full Text] [Related]  

  • 8. [A clinical study of Proteus syndrome caused by a mosaic somatic mutation in AKT1 gene].
    Xu Y; Fu WZ; He JW; Yue H; Zhang ZL
    Zhonghua Nei Ke Za Zhi; 2019 Jul; 58(7):508-513. PubMed ID: 31269567
    [No Abstract]   [Full Text] [Related]  

  • 9. A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
    Lindhurst MJ; Sapp JC; Teer JK; Johnston JJ; Finn EM; Peters K; Turner J; Cannons JL; Bick D; Blakemore L; Blumhorst C; Brockmann K; Calder P; Cherman N; Deardorff MA; Everman DB; Golas G; Greenstein RM; Kato BM; Keppler-Noreuil KM; Kuznetsov SA; Miyamoto RT; Newman K; Ng D; O'Brien K; Rothenberg S; Schwartzentruber DJ; Singhal V; Tirabosco R; Upton J; Wientroub S; Zackai EH; Hoag K; Whitewood-Neal T; Robey PG; Schwartzberg PL; Darling TN; Tosi LL; Mullikin JC; Biesecker LG
    N Engl J Med; 2011 Aug; 365(7):611-9. PubMed ID: 21793738
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
    Chang F; Liu L; Fang E; Zhang G; Chen T; Cao K; Li Y; Li MM
    J Mol Diagn; 2017 Jul; 19(4):613-624. PubMed ID: 28502725
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.
    Garcias-Ladaria J; Cuadrado Rosón M; Pascual-López M
    Actas Dermosifiliogr (Engl Ed); 2018 Oct; 109(8):677-686. PubMed ID: 29983155
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Heterozygous somatic activating AKT1 mutation in a case of Proteus syndrome with mental retardation.
    Yang Z; Xu Z; Sun YJ; Ma L
    J Dermatol; 2014 Feb; 41(2):188-9. PubMed ID: 24387135
    [No Abstract]   [Full Text] [Related]  

  • 13. Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.
    Schmidt J; Bremmer F; Brockmann K; Kaulfuß S; Wollnik B
    Clin Genet; 2022 Sep; 102(3):239-241. PubMed ID: 35670639
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Proteus syndrome review: molecular, clinical, and pathologic features.
    Cohen MM
    Clin Genet; 2014 Feb; 85(2):111-9. PubMed ID: 23992099
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutant AKT1 in Proteus syndrome.
    Marsh DJ; Trahair TN; Kirk EP
    N Engl J Med; 2011 Dec; 365(22):2141-2; author reply 2142. PubMed ID: 22129268
    [No Abstract]   [Full Text] [Related]  

  • 16. Proteus Syndrome: Case Report with Anatomopathological Correlation.
    Arredondo Montero J; Bronte Anaut M; López-Gutiérrez JC
    Fetal Pediatr Pathol; 2022 Oct; 41(5):861-864. PubMed ID: 34668833
    [No Abstract]   [Full Text] [Related]  

  • 17. Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
    Modlin EW; Slavotinek AM; Darling TN; Lipkowitz S; Barr FG; Munster PN; Biesecker LG; Ours CA
    Am J Med Genet A; 2022 Sep; 188(9):2766-2771. PubMed ID: 35441778
    [TBL] [Abstract][Full Text] [Related]  

  • 18. How many epidermal nevus syndromes exist? A clinicogenetic classification.
    Happle R
    J Am Acad Dermatol; 1991 Sep; 25(3):550-6. PubMed ID: 1918493
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
    Abell K; Tolusso L; Smith N; Hopkin R; Vawter-Lee M; Habli M; Riddle S; Calvo-Garcia MA; Guan Q; Bierbrauer K; Hwa V; Saal HM
    Birth Defects Res; 2020 Nov; 112(19):1733-1737. PubMed ID: 32935482
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Epidermal naevi associated with trichilemmal cysts and chromosomal mosaicism.
    Iglesias Zamora ME; Vázquez-Doval FJ
    Br J Dermatol; 1997 Nov; 137(5):821-4. PubMed ID: 9415250
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.