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Volumn 129 A, Issue 1, 2004, Pages 62-63

Endocrine abnormalities in patients with Jacobsen (11q-) syndrome

Author keywords

11q terminal deletion disorder; Cryptorchidism; IGF 1; Jacobsen syndrome; Short stature

Indexed keywords

GROWTH HORMONE; SOMATOMEDIN C;

EID: 3343013915     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30248     Document Type: Article
Times cited : (13)

References (13)
  • 3
    • 0015707559 scopus 로고
    • An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring
    • Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J. 1973. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. Hum Hered 23:568-585.
    • (1973) Hum Hered , vol.23 , pp. 568-585
    • Jacobsen, P.1    Hauge, M.2    Henningsen, K.3    Hobolth, N.4    Mikkelsen, M.5    Philip, J.6
  • 6
    • 0342424768 scopus 로고    scopus 로고
    • Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: Evidence for a common mechanism of chromosome breakage
    • Jones C, Mullenbach R, Grossfeld P, Auer R, Favier R, Chien K, James M, Tunnacliffe A, Cotter F. 2000. Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: Evidence for a common mechanism of chromosome breakage. Hum Mol Genet 9:1201-1208.
    • (2000) Hum Mol Genet , vol.9 , pp. 1201-1208
    • Jones, C.1    Mullenbach, R.2    Grossfeld, P.3    Auer, R.4    Favier, R.5    Chien, K.6    James, M.7    Tunnacliffe, A.8    Cotter, F.9
  • 9
    • 0029745041 scopus 로고    scopus 로고
    • Jacobsen Syndrome: Report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases
    • Pivnick EK, Velagaleti GV, Wilroy RS, Smith ME, Rose SR, Tipton RE, Tharapel AT. 1996. Jacobsen Syndrome: Report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases. J Med Genet 33:772-778.
    • (1996) J Med Genet , vol.33 , pp. 772-778
    • Pivnick, E.K.1    Velagaleti, G.V.2    Wilroy, R.S.3    Smith, M.E.4    Rose, S.R.5    Tipton, R.E.6    Tharapel, A.T.7
  • 10
    • 0001937666 scopus 로고    scopus 로고
    • Normal and aberrant growth
    • Wilson JD et al, editors. Philadelphia: WB Saunders Company
    • Reiter EO and Rosenfeld RG. 1998. Normal and aberrant growth. In: Wilson JD et al, editors. Williams textbook of endocrinology. Philadelphia: WB Saunders Company, pp 1427-1507.
    • (1998) Williams Textbook of Endocrinology , pp. 1427-1507
    • Reiter, E.O.1    Rosenfeld, R.G.2
  • 13
    • 0017332979 scopus 로고
    • Ring 11 chromosome (46,XX, r11(p15q25))
    • Valente M, Muller H, Sparkes RS. 1977. Ring 11 chromosome (46,XX, r11(p15q25)). Hum Genet 36:345-350.
    • (1977) Hum Genet , vol.36 , pp. 345-350
    • Valente, M.1    Muller, H.2    Sparkes, R.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.