These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

372 related items for PubMed ID: 31443423

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. 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 12; 291(7):3124-34. PubMed ID: 26635368
    [Abstract] [Full Text] [Related]

  • 3. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.
    Banerjee S, Lei D, Liang S, Yang L, Liu S, Wei Z, Tang JP.
    Oncotarget; 2017 Jun 13; 8(24):39695-39702. PubMed ID: 27980226
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
    Pabst L, Carroll J, Lo W, Truxal KV.
    Am J Med Genet A; 2021 Jan 13; 185(1):223-227. PubMed ID: 33078527
    [Abstract] [Full Text] [Related]

  • 6. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
    Brems H, Legius E.
    Keio J Med; 2013 Jan 13; 62(4):107-12. PubMed ID: 24334617
    [Abstract] [Full Text] [Related]

  • 7. 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 31; 10(8):. PubMed ID: 31370276
    [Abstract] [Full Text] [Related]

  • 8. 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, Northern UK NF1 Research Network, Huson SM.
    EBioMedicine; 2016 May 31; 7():212-20. PubMed ID: 27322474
    [Abstract] [Full Text] [Related]

  • 9. 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 29; 34(5):631-8. PubMed ID: 24469042
    [Abstract] [Full Text] [Related]

  • 10. 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 29; 8(4):e1180. PubMed ID: 32107864
    [Abstract] [Full Text] [Related]

  • 11. Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
    Denayer E, Legius E.
    Acta Derm Venereol; 2020 Mar 25; 100(7):adv00093. PubMed ID: 32147744
    [Abstract] [Full Text] [Related]

  • 12. 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 25; 16(6):448-59. PubMed ID: 24232412
    [Abstract] [Full Text] [Related]

  • 13. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
    Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A.
    Am J Med Genet A; 2009 Jun 25; 149A(6):1263-7. PubMed ID: 19449407
    [Abstract] [Full Text] [Related]

  • 14. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
    Calì F, Chiavetta V, Ruggeri G, Piccione M, Selicorni A, Palazzo D, Bonsignore M, Cereda A, Elia M, Failla P, Figura MG, Fiumara A, Maitz S, Luana Mandarà GM, Mattina T, Ragalmuto A, Romano C, Ruggieri M, Salluzzo R, Saporoso A, Schepis C, Sorge G, Spanò M, Tortorella G, Romano V.
    Eur J Med Genet; 2017 Feb 25; 60(2):93-99. PubMed ID: 27838393
    [Abstract] [Full Text] [Related]

  • 15. Epilepsy in Legius syndrome: Coincidence or causation?
    Medina Lemus A, Boelman C, Myers KA.
    Am J Med Genet A; 2024 Jun 25; 194(6):e63547. PubMed ID: 38268057
    [Abstract] [Full Text] [Related]

  • 16. Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
    Bianchessi D, Ibba MC, Saletti V, Blasa S, Langella T, Paterra R, Cagnoli GA, Melloni G, Scuvera G, Natacci F, Cesaretti C, Finocchiaro G, Eoli M.
    Genes (Basel); 2020 Jun 19; 11(6):. PubMed ID: 32575496
    [Abstract] [Full Text] [Related]

  • 17. 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 18; 302(19):2111-8. PubMed ID: 19920235
    [Abstract] [Full Text] [Related]

  • 18. A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.
    Stowe IB, Mercado EL, Stowe TR, Bell EL, Oses-Prieto JA, Hernández H, Burlingame AL, McCormick F.
    Genes Dev; 2012 Jul 01; 26(13):1421-6. PubMed ID: 22751498
    [Abstract] [Full Text] [Related]

  • 19. Identification of a Novel NF1 Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1.
    Xu G, Li M, Niu Y, Huang X, Li Y, Tang G, Long S, Zhao H, Jiang H.
    Biomed Res Int; 2019 Jul 01; 2019():2721357. PubMed ID: 31886188
    [Abstract] [Full Text] [Related]

  • 20. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
    Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN.
    J Med Genet; 2009 Jul 01; 46(7):425-30. PubMed ID: 19366998
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 19.