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REFERENCES

  • Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, et al. 2005. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37: 10381040.
  • de Boode WP, Semmekrot BA, ter Laak HJ, van der Burgt CJAM, Draaisma JMT, Lommen EJP, Sengers RCA, van Wijk-Hoek JM. 1996. Myopathology in patients with a Noonan phenotype. Acta Neuropathol 92: 597602.
  • Emery JL, Mithal A. 1960. The number of alveoli in the terminal respiratory unit of man during late intrauterine life and childhood. Arch Dis Child 35: 544547.
  • Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP, McVean GA, Rajpert-De Meyts E, Wilkie AO. 2009. Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Nat Genet 41: 12471252.
  • Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, et al. 2011. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Am J Med Genet A 155A: 706716.
  • Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, et al. 2002. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 70: 472486.
  • Kerr B. 2009. The Clinical phenotype of Costello syndrome. In: Zenker M, editor. Noonan syndrome and related disorders. Monogr Hum Genet, vol 17. Basel: Karger. pp 8393.
  • Kerr B, Delrue M-A, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan JO, et al. 2006. Genotype-phenotype correlation in Costello syndrome: HRAS mutations analysis in 43 cases. J Med Genet 43: 401405.
  • Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, et al. 2010. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: Dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat 31: 284294.
  • Land H, Parada LF, Weinberg RA. 1983. Tumorigenic conversion of primary embryo fibroblasts requires at least two co-operating oncogenes. Nature 304: 596602.
  • Langston C, Dishop MK. 2009. Diffuse lung disease in infancy: A proposed classification applied to 259 diagnostic biopsies. Pediatr Dev Pathol 12: 421437.
  • Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, et al. 2011. SOS1 mutations in Noonan syndrome: Molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat 32: 760772.
  • Lo IF, Brewer C, Shannon N, Shorto J, Tang B, Black G, Soo MT, Ng DK, Lam ST, Kerr B. 2008. Severe neonatal manifestations of Costello syndrome. J Med Genet 45: 167171.
  • MacMahon HE. 1948. Congenital alveolar dysplasia of the lungs. Am J Pathol 24: 919931.
  • Manci EA, Martinez JE, Horenstein MG, Gardner TM, Ahmed A, Mancao MC, Gremse DA, Gardner DM, Nimityongskul P, Maertens P, et al. 2005. Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study. Am J Med Genet A 137A: 18.
  • Melly L, Sebire NJ, Malone M, Nicholson AG. 2008. Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. Histopathology 53: 450457.
  • Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, et al. 1997. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet 6: 137143.
  • Parada LF, Tabin CJ, Shih C, Weinberg RA. 1982. Human EJ bladder carcinoma oncogene is homologue of Harvey sarcoma virus ras gene. Nature 297: 474478.
  • Schuettpelz LG, McDonald S, Whitesell K, Desruisseau DM, Grange DK, Gurnett CA, Wilson DB. 2009. Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr Blood Cancer 53: 11471149.
  • Urosevic J, Sauzeau V, Soto-Montenegro ML, Reig S, Desco M, Burkitt Wright EM, Cañamero M, Mulero F, Ortega S, Bustelo XR, et al. 2011. Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome. Proc Natl Acad Sci USA 108: 50155020.
  • van der Burgt I, Kupsky W, Stassou S, Nadroo A, Barroso C, Diem A, Kratz CP, Dvorsky R, Ahmadian MR, Zenker M. 2007. Myopathy caused by HRAS germline mutations: Implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. J Med Genet 44: 459462.