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Journal Abstract Search

567 related items for PubMed ID: 20030748

  • 21.
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  • 22. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
    Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y.
    J Hum Genet; 2008; 53(9):834-841. PubMed ID: 18651097
    [Abstract] [Full Text] [Related]

  • 23. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
    Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N.
    Am J Med Genet A; 2017 Sep; 173(9):2346-2352. PubMed ID: 28650561
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  • 24.
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  • 25. Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
    Ørstavik KH, Tangeraas T, Molven A, Prescott TE.
    Eur J Med Genet; 2007 Sep; 50(2):155-8. PubMed ID: 17324647
    [Abstract] [Full Text] [Related]

  • 26. Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
    Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S.
    Hum Genet; 2002 Oct; 111(4-5):421-7. PubMed ID: 12384786
    [Abstract] [Full Text] [Related]

  • 27. [RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].
    Gos M, Leszkiewicz M, Abramowicz A.
    Postepy Biochem; 2012 Oct; 58(3):255-64. PubMed ID: 23373411
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  • 28.
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  • 29. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
    Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y.
    Hum Mutat; 2010 Mar; 31(3):284-94. PubMed ID: 20052757
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  • 30.
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  • 31.
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  • 33. Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
    Yu KPT, Luk HM, Leung GKC, Mak CCY, Cheng SSW, Hau EWL, Chan DKH, Lam STS, Tong TMF, Chung BHY, Lo IFM.
    Am J Med Genet C Semin Med Genet; 2019 Jun; 181(2):208-217. PubMed ID: 30896080
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  • 34.
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  • 35. Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
    Stark Z, Gillessen-Kaesbach G, Ryan MM, Cirstea IC, Gremer L, Ahmadian MR, Savarirayan R, Zenker M.
    Clin Genet; 2012 Jun; 81(6):590-4. PubMed ID: 21797849
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  • 36. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
    Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K.
    J Med Genet; 2007 Feb; 44(2):131-5. PubMed ID: 17056636
    [Abstract] [Full Text] [Related]

  • 37. Orthopaedic conditions in Ras/MAPK related disorders.
    Reinker KA, Stevenson DA, Tsung A.
    J Pediatr Orthop; 2011 Feb; 31(5):599-605. PubMed ID: 21654472
    [Abstract] [Full Text] [Related]

  • 38. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
    Uludağ Alkaya D, Lissewski C, Yeşil G, Zenker M, Tüysüz B.
    Am J Med Genet A; 2021 Dec; 185(12):3623-3633. PubMed ID: 34184824
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  • 39.
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  • 40. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.
    Tidyman WE, Lee HS, Rauen KA.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):104-14. PubMed ID: 21495178
    [Abstract] [Full Text] [Related]

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