BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

300 related articles for article (PubMed ID: 32147744)

  • 1. Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
    Denayer E; Legius E
    Acta Derm Venereol; 2020 Mar; 100(7):adv00093. PubMed ID: 32147744
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
    Brems H; Legius E
    Keio J Med; 2013; 62(4):107-12. PubMed ID: 24334617
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
    Hirata Y; Brems H; Suzuki M; Kanamori M; Okada M; Morita R; Llano-Rivas I; Ose T; Messiaen L; Legius E; Yoshimura A
    J Biol Chem; 2016 Feb; 291(7):3124-34. PubMed ID: 26635368
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature.
    Bernier A; Larbrisseau A; Perreault S
    Pediatr Neurol; 2016 Jul; 60():24-29.e1. PubMed ID: 27212418
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
    Witkowski L; Dillon MW; Murphy E; S Lebo M; Mason-Suares H
    Mol Genet Genomic Med; 2020 Apr; 8(4):e1180. PubMed ID: 32107864
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.
    Yao R; Wang L; Yu Y; Wang J; Shen Y
    J Dermatol; 2016 May; 43(5):537-42. PubMed ID: 26458495
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
    Zhang J; Li M; Yao Z
    Mol Med Rep; 2016 Nov; 14(5):4023-4029. PubMed ID: 27666661
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.
    Tong HX; Li M; Zhang Y; Zhu J; Lu WQ
    Genet Mol Res; 2012 Aug; 11(3):2972-8. PubMed ID: 22869071
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
    Evans DG; Bowers N; Burkitt-Wright E; Miles E; Garg S; Scott-Kitching V; Penman-Splitt M; Dobbie A; Howard E; Ealing J; Vassalo G; Wallace AJ; Newman W; ; Huson SM
    EBioMedicine; 2016 May; 7():212-20. PubMed ID: 27322474
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?
    Cassiman C; Casteels I; Jacob J; Plasschaert E; Brems H; Dubron K; Keer KV; Legius E
    Clin Genet; 2017 Apr; 91(4):529-535. PubMed ID: 27716896
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The diagnostic and clinical significance of café-au-lait macules.
    Shah KN
    Pediatr Clin North Am; 2010 Oct; 57(5):1131-53. PubMed ID: 20888463
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pathogenic Mutations Associated with Legius Syndrome Modify the Spred1 Surface and Are Involved in Direct Binding to the Ras Inactivator Neurofibromin.
    Führer S; Tollinger M; Dunzendorfer-Matt T
    J Mol Biol; 2019 Sep; 431(19):3889-3899. PubMed ID: 31401120
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Café au Lait Macules and Associated Genetic Syndromes.
    Anderson S
    J Pediatr Health Care; 2020; 34(1):71-81. PubMed ID: 31831114
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
    Stewart DR; Brems H; Gomes AG; Ruppert SL; Callens T; Williams J; Claes K; Bober MB; Hachen R; Kaban LB; Li H; Lin A; McDonald M; Melancon S; Ortenberg J; Radtke HB; Samson I; Saul RA; Shen J; Siqveland E; Toler TL; van Maarle M; Wallace M; Williams M; Legius E; Messiaen L
    Genet Med; 2014 Jun; 16(6):448-59. PubMed ID: 24232412
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
    Messiaen L; Yao S; Brems H; Callens T; Sathienkijkanchai A; Denayer E; Spencer E; Arn P; Babovic-Vuksanovic D; Bay C; Bobele G; Cohen BH; Escobar L; Eunpu D; Grebe T; Greenstein R; Hachen R; Irons M; Kronn D; Lemire E; Leppig K; Lim C; McDonald M; Narayanan V; Pearn A; Pedersen R; Powell B; Shapiro LR; Skidmore D; Tegay D; Thiese H; Zackai EH; Vijzelaar R; Taniguchi K; Ayada T; Okamoto F; Yoshimura A; Parret A; Korf B; Legius E
    JAMA; 2009 Nov; 302(19):2111-8. PubMed ID: 19920235
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [A novel neurocutaneous syndrome: Legius syndrome. A case report].
    Cemeli-Cano M; Peña-Segura JL; Fernando-Martínez R; Izquierdo-Álvarez S; Monge-Galindo L; López-Pisón J
    Rev Neurol; 2014 Sep; 59(5):209-12. PubMed ID: 25156025
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
    Giugliano T; Santoro C; Torella A; Del Vecchio Blanco F; Grandone A; Onore ME; Melone MAB; Straccia G; Melis D; Piccolo V; Limongelli G; Buono S; Perrotta S; Nigro V; Piluso G
    Genes (Basel); 2019 Jul; 10(8):. PubMed ID: 31370276
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.
    Pasmant E; Gilbert-Dussardier B; Petit A; de Laval B; Luscan A; Gruber A; Lapillonne H; Deswarte C; Goussard P; Laurendeau I; Uzan B; Pflumio F; Brizard F; Vabres P; Naguibvena I; Fasola S; Millot F; Porteu F; Vidaud D; Landman-Parker J; Ballerini P
    Oncogene; 2015 Jan; 34(5):631-8. PubMed ID: 24469042
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism.
    Legius E; Brems H
    Childs Nerv Syst; 2020 Oct; 36(10):2285-2295. PubMed ID: 32601904
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Updated Approach to Patients with Multiple Café au Lait Macules.
    Albaghdadi M; Thibodeau ML; Lara-Corrales I
    Dermatol Clin; 2022 Jan; 40(1):9-23. PubMed ID: 34799039
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.