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Volumn 146, Issue 7, 2008, Pages 940-943

Clarification of previously reported Costello syndrome patients

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CENTRAL NERVOUS SYSTEM MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COSTELLO SYNDROME; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH HORMONE DEFICIENCY; HEART ARRHYTHMIA; HEART VENTRICLE HYPERTROPHY; HUMAN; HYDRAMNIOS; HYPERTROPHIC CARDIOMYOPATHY; LETTER; MALE; ONCOGENE H RAS; PRIORITY JOURNAL; RHABDOMYOSARCOMA; TUMOR;

EID: 41849093035     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32164     Document Type: Letter
Times cited : (11)

References (18)
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    • Editor's note
    • Carey J. 2006. Editor's note. Am J Med Genet Part A 140A:8.
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    • HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy
    • Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA. 2006. HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet Part A 140A:8-16.
    • (2006) Am J Med Genet , vol.140 A , Issue.PART A , pp. 8-16
    • Estep, A.L.1    Tidyman, W.E.2    Teitell, M.A.3    Cotter, P.D.4    Rauen, K.A.5
  • 5
    • 0034736995 scopus 로고    scopus 로고
    • A second case of bladder carcinoma in a patient with Costello syndrome
    • Gripp KW, Scott CI Jr, Nicholson L, Figueroa TE. 2000. A second case of bladder carcinoma in a patient with Costello syndrome. Am J Med Genet 90:256-259.
    • (2000) Am J Med Genet , vol.90 , pp. 256-259
    • Gripp, K.W.1    Scott Jr, C.I.2    Nicholson, L.3    Figueroa, T.E.4
  • 7
    • 3042843504 scopus 로고    scopus 로고
    • Elevated catecholamine metabolites in patients with Costello syndrome
    • Gripp KW, Kawame H, Vishkochil D, Nicholson L. 2004. Elevated catecholamine metabolites in patients with Costello syndrome. Am J Med Genet Part A 128A:48-51.
    • (2004) Am J Med Genet , vol.128 A , Issue.PART A , pp. 48-51
    • Gripp, K.W.1    Kawame, H.2    Vishkochil, D.3    Nicholson, L.4
  • 9
    • 12944312693 scopus 로고    scopus 로고
    • Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy
    • Hinek A, Teitell MA, Schoyer L, Allen W, Gripp KW, Hamilton R, Weksberg R, Kluppel M, Lin AE. 2005. Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy. Am J Med Genet Part A 133A:1-12.
    • (2005) Am J Med Genet , vol.133 A , Issue.PART A , pp. 1-12
    • Hinek, A.1    Teitell, M.A.2    Schoyer, L.3    Allen, W.4    Gripp, K.W.5    Hamilton, R.6    Weksberg, R.7    Kluppel, M.8    Lin, A.E.9
  • 13
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    • Growth hormone deficiency in Costello syndrome: A possible explanation for the short stature
    • Legault L, Gagnon C, Lapointe N. 2001. Growth hormone deficiency in Costello syndrome: A possible explanation for the short stature. J Pediatr 138:151-152.
    • (2001) J Pediatr , vol.138 , pp. 151-152
    • Legault, L.1    Gagnon, C.2    Lapointe, N.3
  • 15
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    • Hand it to the skin in Costello syndrome
    • Lin AE, Silberbach M, Harding C. 2004. Hand it to the skin in Costello syndrome. J Pediatr 144:135.
    • (2004) J Pediatr , vol.144 , pp. 135
    • Lin, A.E.1    Silberbach, M.2    Harding, C.3
  • 18
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    • White W, Graham JM Jr, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. 2005. The adult phenotype in Costello syndrome. Am J Med Genet Part A 136A:128-135. Erratum in: Am J Med Genet Part A 139A:55.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.