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Journal Abstract Search

134 related items for PubMed ID: 38268057

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  • 3. 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
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  • 4. 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
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  • 5. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
    Brems H, Legius E.
    Keio J Med; 2013 Mar 25; 62(4):107-12. PubMed ID: 24334617
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  • 6. 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
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  • 8. Family with Legius syndrome (neurofibromatosis type 1-like syndrome).
    Sakai N, Maeda T, Kawakami H, Uchiyama M, Harada K, Tsuboi R, Mitsuhashi Y.
    J Dermatol; 2015 Jul 29; 42(7):703-5. PubMed ID: 25981987
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  • 9. 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 29; 16(6):448-59. PubMed ID: 24232412
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  • 10. 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 29; 185(1):223-227. PubMed ID: 33078527
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  • 11. Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature.
    Bernier A, Larbrisseau A, Perreault S.
    Pediatr Neurol; 2016 Jul 29; 60():24-29.e1. PubMed ID: 27212418
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  • 12. SPRED 1 mutations in a neurofibromatosis clinic.
    Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR, Rong Mao.
    J Child Neurol; 2010 Oct 29; 25(10):1203-9. PubMed ID: 20179001
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  • 13. Review and update of SPRED1 mutations causing Legius syndrome.
    Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L.
    Hum Mutat; 2012 Nov 29; 33(11):1538-46. PubMed ID: 22753041
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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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  • 15. Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1).
    Chiu YE, Dugan S, Basel D, Siegel DH.
    Pediatr Dermatol; 2013 Jul 31; 30(3):379-82. PubMed ID: 23016555
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  • 16. Legius syndrome in fourteen families.
    Denayer E, Chmara M, Brems H, Kievit AM, van Bever Y, Van den Ouweland AM, Van Minkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, Beert E, Ishizaki T, Mori T, Keymolen K, Van den Ende J, Mangold E, Peltonen S, Brice G, Rankin J, Van Spaendonck-Zwarts KY, Yoshimura A, Legius E.
    Hum Mutat; 2011 Jan 31; 32(1):E1985-98. PubMed ID: 21089071
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