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Journal Abstract Search

224 related items for PubMed ID: 24469042

  • 21.
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  • 22. NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.
    Muram-Zborovski TM, Vaughn CP, Viskochil DH, Hanson H, Mao R, Stevenson DA.
    Am J Med Genet A; 2010 Aug; 152A(8):1973-8. PubMed ID: 20602485
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  • 23.
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  • 24. SPRED1 Interferes with K-ras but Not H-ras Membrane Anchorage and Signaling.
    Siljamäki E, Abankwa D.
    Mol Cell Biol; 2016 Oct 15; 36(20):2612-25. PubMed ID: 27503857
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  • 26. Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
    Spencer E, Davis J, Mikhail F, Fu C, Vijzelaar R, Zackai EH, Feret H, Meyn MS, Shugar A, Bellus G, Kocsis K, Kivirikko S, Pöyhönen M, Messiaen L.
    Am J Med Genet A; 2011 Jun 15; 155A(6):1352-9. PubMed ID: 21548021
    [Abstract] [Full Text] [Related]

  • 27. Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
    Chelleri C, Brolatti N, De Marco P, Ognibene M, Diana MC, Madia F, Duca MD, Santangelo A, Capra V, Striano P, Zara F, Scala M.
    Am J Med Genet A; 2024 Dec 15; 194(12):e63824. PubMed ID: 39031930
    [Abstract] [Full Text] [Related]

  • 28. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
    Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E.
    Nat Genet; 2007 Sep 15; 39(9):1120-6. PubMed ID: 17704776
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  • 29. Legius syndrome: A case report.
    Kimura R, Yoshida Y, Maruoka R, Kosaki K, Yamamoto O.
    J Dermatol; 2017 Apr 15; 44(4):459-460. PubMed ID: 28378438
    [Abstract] [Full Text] [Related]

  • 30. Impaired instrumental learning in Spred1-/- mice, a model for a rare RASopathy.
    Borrie SC, Horner AE, Yoshimura A, Legius E, Kopanitsa MV, Brems H.
    Genes Brain Behav; 2021 Jun 15; 20(5):e12727. PubMed ID: 33624414
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  • 31. Legius syndrome: case report and review of literature.
    Benelli E, Bruno I, Belcaro C, Ventura A, Berti I.
    Ital J Pediatr; 2015 Feb 08; 41():8. PubMed ID: 25883013
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  • 32.
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  • 33. Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome.
    Stevens CA, Chiang PW, Messiaen LM.
    Am J Med Genet A; 2012 May 08; 158A(5):1195-9. PubMed ID: 22438235
    [Abstract] [Full Text] [Related]

  • 34. A Pilot Study of Aberrant CpG Island Hypermethylation of SPRED1 in Acute Myeloloid Leukemia.
    Sun J, Zhang J, Wang Y, Li Y, Zhang R.
    Int J Med Sci; 2019 May 08; 16(2):324-330. PubMed ID: 30745814
    [Abstract] [Full Text] [Related]

  • 35. MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders.
    Borrie SC, Plasschaert E, Callaerts-Vegh Z, Yoshimura A, D'Hooge R, Elgersma Y, Kushner SA, Legius E, Brems H.
    Mol Autism; 2021 Jul 26; 12(1):53. PubMed ID: 34311771
    [Abstract] [Full Text] [Related]

  • 36. Coincidental Expression of Classic Hodgkin Lymphoma and Neurofibromatosis Type I and Literature Review.
    Cabrera TB, Wang W, Yedururi S, Slopis JM, Steiner RE, Rytting ME, Cuglievan B.
    J Pediatr Hematol Oncol; 2021 May 01; 43(4):e535-e538. PubMed ID: 32366782
    [Abstract] [Full Text] [Related]

  • 37. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
    Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M.
    J Med Genet; 2009 Jul 01; 46(7):431-7. PubMed ID: 19443465
    [Abstract] [Full Text] [Related]

  • 38. The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivation.
    Dunzendorfer-Matt T, Mercado EL, Maly K, McCormick F, Scheffzek K.
    Proc Natl Acad Sci U S A; 2016 Jul 05; 113(27):7497-502. PubMed ID: 27313208
    [Abstract] [Full Text] [Related]

  • 39. The SPRED1 Variants Repository for Legius Syndrome.
    Sumner K, Crockett DK, Muram T, Mallempati K, Best H, Mao R.
    G3 (Bethesda); 2011 Nov 05; 1(6):451-6. PubMed ID: 22384355
    [Abstract] [Full Text] [Related]

  • 40. Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?
    Orlandi V, Cavarzere P, Palma L, Gaudino R, Antoniazzi F.
    Ital J Pediatr; 2021 Mar 04; 47(1):50. PubMed ID: 33663580
    [Abstract] [Full Text] [Related]

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