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Volumn 42, Issue 5, 2010, Pages 326-330

CHARGE syndrome as unusual cause of hypogonadism: Endocrine and molecular evaluation

Author keywords

CHARGE syndrome; CHD7 gene; hypogonadism; molecular evaluation; osteoporosis

Indexed keywords

ALENDRONIC ACID; CALCIUM CARBONATE; COLECALCIFEROL; ETIDRONIC ACID; IRON; TESTOSTERONE; VITAMIN D;

EID: 77957311237     PISSN: 03034569     EISSN: 14390272     Source Type: Journal    
DOI: 10.1111/j.1439-0272.2009.00994.x     Document Type: Article
Times cited : (4)

References (15)
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    • Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromography
    • Aramaki M, Udaja T, Torii C, Samejima H, Losaki R, Takahashi T, Kosaki K (2006) Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromography. Genet Test 10 : 244 251.
    • (2006) Genet Test , vol.10 , pp. 244-251
    • Aramaki, M.1    Udaja, T.2    Torii, C.3    Samejima, H.4    Losaki, R.5    Takahashi, T.6    Kosaki, K.7
  • 6
    • 49449083090 scopus 로고    scopus 로고
    • Role of hormones, genes, and environment in human cryptorchidism
    • Foresta C, Zuccarello D, Garolla A, Ferlin A (2008) Role of hormones, genes, and environment in human cryptorchidism. Endocr Rev 29 : 560 580.
    • (2008) Endocr Rev , vol.29 , pp. 560-580
    • Foresta, C.1    Zuccarello, D.2    Garolla, A.3    Ferlin, A.4
  • 8
    • 39349113821 scopus 로고    scopus 로고
    • Clinical manifestations of impaired GnRH neuron development and function
    • Kim H-G, Bhagavath B, Layman LC (2008) Clinical manifestations of impaired GnRH neuron development and function. Neurosignals 16 : 165 182.
    • (2008) Neurosignals , vol.16 , pp. 165-182
    • Kim, H.-G.1    Bhagavath, B.2    Layman, L.C.3
  • 15
    • 38149063754 scopus 로고    scopus 로고
    • Improving sequence variant descriptions in mutation database and literature using the Mutalyzer sequence variation nomenclature checker
    • Wildeman M, van Opzuihen E, den Dunnen JT, Taschner PE (2008) Improving sequence variant descriptions in mutation database and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29 : 6 13.
    • (2008) Hum Mutat , vol.29 , pp. 6-13
    • Wildeman, M.1    Van Opzuihen, E.2    Den Dunnen, J.T.3    Taschner, P.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.