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Journal Abstract Search

287 related items for PubMed ID: 31573083

  • 1. Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
    Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador H, Lázaro C, Blanco I, Vilageliu L, Brems H, Grinberg D, Legius E, Serra E.
    Clin Genet; 2020 Feb; 97(2):264-275. PubMed ID: 31573083
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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 18; 8(4):e1180. PubMed ID: 32107864
    [Abstract] [Full Text] [Related]

  • 4. 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 18; 43(5):537-42. PubMed ID: 26458495
    [Abstract] [Full Text] [Related]

  • 5. Genetic analyses of mosaic neurofibromatosis type 1 with giant café-au-lait macule, plexiform neurofibroma and multiple melanocytic nevi.
    Hida T, Idogawa M, Okura M, Sugita S, Sugawara T, Sasaki Y, Tokino T, Yamashita T, Uhara H.
    J Dermatol; 2020 Jun 18; 47(6):658-662. PubMed ID: 32246533
    [Abstract] [Full Text] [Related]

  • 6. 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 18; 16(6):448-59. PubMed ID: 24232412
    [Abstract] [Full Text] [Related]

  • 7. 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
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  • 12. Value of a café-au-lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto.
    Albaghdadi M, Berseneva M, Pennal A, Wan S, Matviychuk D, Shugar A, Kannu P, Lara-Corrales I.
    Pediatr Dermatol; 2022 Mar 13; 39(2):205-210. PubMed ID: 35178768
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  • 13. Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
    Boyd KP, Gao L, Feng R, Beasley M, Messiaen L, Korf BR, Theos A.
    J Am Acad Dermatol; 2010 Sep 13; 63(3):440-7. PubMed ID: 20605257
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  • 14. 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
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  • 16. 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
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  • 18. 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 29; 11(3):2972-8. PubMed ID: 22869071
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  • 19. Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
    Zhang J, Li M, Yao Z.
    Mol Med Rep; 2016 Nov 29; 14(5):4023-4029. PubMed ID: 27666661
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  • 20. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
    Brems H, Legius E.
    Keio J Med; 2013 Nov 29; 62(4):107-12. PubMed ID: 24334617
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