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

366 related items for PubMed ID: 32107864

  • 1. 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; 8(4):e1180. PubMed ID: 32107864
    [Abstract] [Full Text] [Related]

  • 2. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
    Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML.
    Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
    [Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4. 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]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No 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.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
    Nyström AM, Ekvall S, Allanson J, Edeby C, Elinder M, Holmström G, Bondeson ML, Annerén G.
    Clin Genet; 2009 Dec; 76(6):524-34. PubMed ID: 19845691
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.
    Santoro C, Giugliano T, Melone MAB, Cirillo M, Schettino C, Bernardo P, Cirillo G, Perrotta S, Piluso G.
    Clin Genet; 2018 Jan 18; 93(1):138-143. PubMed ID: 28456002
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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 26; 152A(8):1973-8. PubMed ID: 20602485
    [Abstract] [Full Text] [Related]

  • 19. 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 26; 16(6):448-59. PubMed ID: 24232412
    [Abstract] [Full Text] [Related]

  • 20. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
    De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B.
    Am J Hum Genet; 2005 Dec 26; 77(6):1092-101. PubMed ID: 16380919
    [Abstract] [Full Text] [Related]

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