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Volumn 121 A, Issue 1, 2003, Pages 82-84

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome [3]

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE; SH PROTEIN TYROSINE PHOSPHATASE; SH PROTEIN-TYROSINE PHOSPHATASE;

EID: 10744221058     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20122     Document Type: Letter
Times cited : (14)

References (18)
  • 1
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    • Simple and nonisotopic methods to detect unknown mutations in nucleic acids
    • Adolph KW, editor. San Diego: Academic Press
    • Bunge S, Fuchs S, Gal A. 1996. Simple and nonisotopic methods to detect unknown mutations in nucleic acids. In: Adolph KW, editor. Methods in molecular genetics: Vol. 8. Human molecular genetics. San Diego: Academic Press. p 26-39.
    • (1996) Methods in Molecular Genetics: Vol. 8. Human Molecular Genetics , vol.8 , pp. 26-39
    • Bunge, S.1    Fuchs, S.2    Gal, A.3
  • 2
    • 0000711626 scopus 로고
    • A new syndrome
    • Costello JM. 1971. A new syndrome. NZ Med J 74:397.
    • (1971) NZ Med J , vol.74 , pp. 397
    • Costello, J.M.1
  • 3
    • 0017687369 scopus 로고
    • A new syndrome: Mental subnormality and nasal papillomata
    • Costello JM. 1977. A new syndrome: Mental subnormality and nasal papillomata. Aust Paediatr J 13:114-118.
    • (1977) Aust Paediatr J , vol.13 , pp. 114-118
    • Costello, J.M.1
  • 5
    • 0026471539 scopus 로고
    • Identification of a human src homology 2-containing protein-tyrosine-phosphatase: A putative homolog of Drosophila corkscrew
    • Freeman RM Jr, Plutzky J, Neel BG. 1993. Identification of a human src homology 2-containing protein-tyrosine-phosphatase: A putative homolog of Drosophila corkscrew. Proc Natl Acad Sci 89:11239-11243.
    • (1993) Proc Natl Acad Sci , vol.89 , pp. 11239-11243
    • Freeman R.M., Jr.1    Plutzky, J.2    Neel, B.G.3
  • 6
    • 0026092357 scopus 로고
    • The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: Are they the same?
    • Fryer AE, Holt PJ, Hughes HE. 1991. The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: Are they the same? Am J Med Genet 38:548-551.
    • (1991) Am J Med Genet , vol.38 , pp. 548-551
    • Fryer, A.E.1    Holt, P.J.2    Hughes, H.E.3
  • 8
    • 0031937054 scopus 로고    scopus 로고
    • Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
    • Legius E, Schollen E, Matthijs G, Fryns JP. 1998. Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family. Eur J Hum Genet 6:32-37.
    • (1998) Eur J Hum Genet , vol.6 , pp. 32-37
    • Legius, E.1    Schollen, E.2    Matthijs, G.3    Fryns, J.P.4
  • 10
    • 0030039828 scopus 로고    scopus 로고
    • Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome
    • Leichtman LG. 1996. Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome. Clin Dysmorphol 5:61-64.
    • (1996) Clin Dysmorphol , vol.5 , pp. 61-64
    • Leichtman, L.G.1
  • 12
    • 0029917390 scopus 로고    scopus 로고
    • Retinitis pigmentosa in a young man with Noonan syndrome: Further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?
    • Lorenzetti ME, Fryns JP. 1996. Retinitis pigmentosa in a young man with Noonan syndrome: Further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? Am J Med Genet 65:97-99.
    • (1996) Am J Med Genet , vol.65 , pp. 97-99
    • Lorenzetti, M.E.1    Fryns, J.P.2
  • 13
    • 0030590561 scopus 로고    scopus 로고
    • More on the Noonan-CFC controversy
    • Neri G, Zollino M. 1996. More on the Noonan-CFC controversy. Am J Med Genet 65:100.
    • (1996) Am J Med Genet , vol.65 , pp. 100
    • Neri, G.1    Zollino, M.2
  • 17
    • 0027977936 scopus 로고
    • The cardio-facio-cutaneous syndrome: A manifestation of the Noonan syndrome?
    • Ward KA, Moss C, McKeown C. 1994. The cardio-facio-cutaneous syndrome: A manifestation of the Noonan syndrome? Br J Dermatol 131:270-274.
    • (1994) Br J Dermatol , vol.131 , pp. 270-274
    • Ward, K.A.1    Moss, C.2    McKeown, C.3
  • 18
    • 0030786932 scopus 로고    scopus 로고
    • Cardio-faciocutaneous (CFC) syndrome - A distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome
    • Wieczorek D, Majewski F, Gillessen-Kaesbach G. 1997. Cardio-faciocutaneous (CFC) syndrome - a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. Clin Genet 52:37-46.
    • (1997) Clin Genet , vol.52 , pp. 37-46
    • Wieczorek, D.1    Majewski, F.2    Gillessen-Kaesbach, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.