BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 30143858)

  • 1. Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas.
    Valera ET; McConechy MK; Gayden T; Rivera B; Jones DTW; Wittmann A; Han H; Bareke E; Nikbakht H; Mikael L; Queiroz RG; Suazo VK; Phi JH; Kim SK; Park SH; Fukaya R; Yum MS; Ko TS; de Oliveira RS; Machado HR; Brassesco MS; do Santos AC; Simão GN; Ramalho LNZ; Neder L; Scrideli CA; Tone LG; Majewski J; Jabado N
    Acta Neuropathol; 2018 Oct; 136(4):657-660. PubMed ID: 30143858
    [No Abstract]   [Full Text] [Related]  

  • 2. Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma.
    Kordacka J; Zakrzewski K; Gruszka R; Witusik-Perkowska M; Taha J; Sikorska B; Liberski PP; Zakrzewska M
    Am J Med Genet A; 2019 Aug; 179(8):1622-1627. PubMed ID: 31173478
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
    Bennett JT; Tan TY; Alcantara D; Tétrault M; Timms AE; Jensen D; Collins S; Nowaczyk MJM; Lindhurst MJ; Christensen KM; Braddock SR; Brandling-Bennett H; Hennekam RCM; Chung B; Lehman A; Su J; Ng S; Amor DJ; ; ; Majewski J; Biesecker LG; Boycott KM; Dobyns WB; O'Driscoll M; Moog U; McDonell LM
    Am J Hum Genet; 2016 Mar; 98(3):579-587. PubMed ID: 26942290
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Encephalocraniocutaneous Lipomatosis Without Ocular Malformations.
    Radić Nišević J; Prpić I; Antulov R; Sasso A; Holjar Erlić I
    Pediatr Neurol; 2016 Jul; 60():71-4. PubMed ID: 27131628
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
    Chacon-Camacho OF; Lopez-Moreno D; Morales-Sanchez MA; Hofmann E; Pacheco-Quito M; Wieland I; Cortes-Gonzalez V; Villanueva-Mendoza C; Zenker M; Zenteno JC
    Mol Genet Genomic Med; 2019 May; 7(5):e625. PubMed ID: 30891959
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas?
    Valera ET; Brassesco MS; Scrideli CA; de Castro Barros MV; Santos AC; Oliveira RS; Machado HR; Tone LG
    Childs Nerv Syst; 2012 Jan; 28(1):19-22. PubMed ID: 21983849
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
    Boppudi S; Bögershausen N; Hove HB; Percin EF; Aslan D; Dvorsky R; Kayhan G; Li Y; Cursiefen C; Tantcheva-Poor I; Toft PB; Bartsch O; Lissewski C; Wieland I; Jakubiczka S; Wollnik B; Ahmadian MR; Heindl LM; Zenker M
    Clin Genet; 2016 Oct; 90(4):334-42. PubMed ID: 26970110
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.
    Barry KK; Liang MG; Balkin DM; Srivastava S; Church AJ; Eng W
    Pediatr Dermatol; 2024; 41(1):76-79. PubMed ID: 37486073
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Encephalocraniocutaneous Lipomatosis.
    Bavle A; Shah R; Gross N; Gavula T; Ruiz-Elizalde A; Wierenga K; McNall-Knapp R
    J Pediatr Hematol Oncol; 2018 Oct; 40(7):553-554. PubMed ID: 29683947
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis.
    Córdoba A; Graue-Hernández EO; Navas A; Chacon-Camacho OF; Zenteno JC; Ramirez-Miranda A; Bermudez-Magner JA; Ordaz-Robles T; Pérez-Solórzano S; Olivo-Payne A
    Am J Case Rep; 2019 Oct; 20():1566-1571. PubMed ID: 31649234
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.
    McDonell LM; Leung GK; Daoud H; Ip J; Chim S; Luk HM; Lan L; ; Boycott KM; Chung BH
    Am J Med Genet A; 2018 Nov; 176(11):2523-2527. PubMed ID: 30289595
    [No Abstract]   [Full Text] [Related]  

  • 12. Neuroimaging Findings in Encephalocraniocutaneous Lipomatosis.
    Michael GA; Poretti A; Huisman TA
    Pediatr Neurol; 2015 Nov; 53(5):462-3. PubMed ID: 26344330
    [No Abstract]   [Full Text] [Related]  

  • 13. Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation.
    Richters RJH; Seyger MMB; Meeuwis KAP; Rinne T; Eijkelenboom A; Willemsen MA
    Acta Derm Venereol; 2020 Apr; 100(8):adv00103. PubMed ID: 31633190
    [No Abstract]   [Full Text] [Related]  

  • 14. Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature.
    Koishi GN; Yoshida M; Alonso N; Matushita H; Goldenberg D
    Clinics (Sao Paulo); 2008 Jun; 63(3):406-8. PubMed ID: 18568254
    [No Abstract]   [Full Text] [Related]  

  • 15. Clinical and Neuroimaging Features of Encephalocraniocutaneous Lipomatosis.
    de Moraes MPM; Ferreira de Abrantes F; Tonholo Silva TY; Pedroso JL; Marussi VHR; Meneses A; Barsottini OGP
    Neurology; 2021 Oct; 97(16):785-786. PubMed ID: 34475128
    [No Abstract]   [Full Text] [Related]  

  • 16. Characteristic imaging findings in encephalocraniocutaneous lipomatosis.
    Lin AW; Krings T
    Neurology; 2015 Mar; 84(13):1384-5. PubMed ID: 25825465
    [No Abstract]   [Full Text] [Related]  

  • 17. [Encephalocraniocutaneous lipomatosis and didymosis aplasticopsilolipara].
    Martí N; Alonso V; Jordá E
    Actas Dermosifiliogr; 2012 May; 103(4):341-2. PubMed ID: 22192510
    [No Abstract]   [Full Text] [Related]  

  • 18. Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome.
    Borgognoni L; Brandani P; Reali F; Gerlini G; Sestini S; Maio V; Reali UM
    J Plast Surg Hand Surg; 2014 Dec; 48(6):449-51. PubMed ID: 24070220
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Segmental overgrowth syndromes and therapeutic strategies].
    Venot Q; Canaud G
    Med Sci (Paris); 2020 Mar; 36(3):235-242. PubMed ID: 32228842
    [TBL] [Abstract][Full Text] [Related]  

  • 20. RASopathies.
    Jafry M; Sidbury R
    Clin Dermatol; 2020; 38(4):455-461. PubMed ID: 32972603
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.