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

95 related items for PubMed ID: 21649642

  • 1. Identification of five novel SPRED1 germline mutations in Legius syndrome.
    Laycock-van Spyk S, Jim HP, Thomas L, Spurlock G, Fares L, Palmer-Smith S, Kini U, Saggar A, Patton M, Mautner V, Pilz DT, Upadhyaya M.
    Clin Genet; 2011 Jul; 80(1):93-6. PubMed ID: 21649642
    [No Abstract] [Full Text] [Related]

  • 2. 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; 33(11):1538-46. PubMed ID: 22753041
    [Abstract] [Full Text] [Related]

  • 3. 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; 46(7):425-30. PubMed ID: 19366998
    [Abstract] [Full Text] [Related]

  • 4. 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; 39(9):1120-6. PubMed ID: 17704776
    [Abstract] [Full Text] [Related]

  • 5. 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; 42(7):703-5. PubMed ID: 25981987
    [Abstract] [Full Text] [Related]

  • 6. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
    Nyström AM, Ekvall S, Strömberg B, Holmström G, Thuresson AC, Annerén G, Bondeson ML.
    Acta Paediatr; 2009 Apr; 98(4):693-8. PubMed ID: 19120036
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. Multiple café au lait macules and Crowe sign.
    López Aventín D, Gilaberte M, Pujol RM.
    Arch Dermatol; 2011 Jun; 147(6):735-40. PubMed ID: 21690543
    [No Abstract] [Full Text] [Related]

  • 11. The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.
    Sekelska M, Briatkova L, Olcak T, Bolcekova A, Ilencikova D, Kadasi L, Zatkova A.
    Gen Physiol Biophys; 2017 Apr; 36(2):205-210. PubMed ID: 28150585
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 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 29; 32(1):E1985-98. PubMed ID: 21089071
    [Abstract] [Full Text] [Related]

  • 17. 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 29; 7():212-20. PubMed ID: 27322474
    [Abstract] [Full Text] [Related]

  • 18. Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.
    Jobling RK, Lara-Corrales I, Hsiao MC, Shugar A, Hedges S, Messiaen L, Kannu P.
    Br J Dermatol; 2017 Apr 29; 176(4):1077-1078. PubMed ID: 27423141
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. 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 29; 155A(6):1352-9. PubMed ID: 21548021
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 5.