메뉴 건너뛰기




Volumn 95, Issue 8, 2011, Pages 2683-2686

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster- Hauser syndrome)

Author keywords

atypical Mayer Rokintansky K ster Hauser syndrome; hyperandrogenism; mullerian aplasia; steroidogenic enzymes regulation; Wnt4

Indexed keywords

CYTOCHROME P450 17; LUTEINIZING HORMONE; PRASTERONE; STEROID 17ALPHA MONOOXYGENASE; TESTOSTERONE; WNT4 PROTEIN;

EID: 79959720658     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2011.01.152     Document Type: Article
Times cited : (87)

References (11)
  • 1
    • 4143139955 scopus 로고    scopus 로고
    • A WNT4 mutation associated with Mullerian-Duct regression and virilization in a 46,XX woman
    • DOI 10.1056/NEJMoa040533
    • A. Biason-Lauber, D. Konrad, F. Navratil, and E.J. Schoenle A Wnt4 mutation associated with mullerian-duct regression and virilization in a 46, XX woman N Engl J Med 351 2004 792 798 (Pubitemid 39095314)
    • (2004) New England Journal of Medicine , vol.351 , Issue.8 , pp. 792-798
    • Biason-Lauber, A.1    Konrad, D.2    Navratil, F.3    Schoenle, E.J.4
  • 2
    • 33845599605 scopus 로고    scopus 로고
    • WNT4 deficiency-a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: A case report
    • DOI 10.1093/humrep/del360
    • A. Biason-Lauber, G. de Filippo, D. Konrad, G. Scarano, A. Nazzaro, and E.J. Schoenle Wnt4 deficiency - a clinical phenotype distinct from the classic Mayer-Rokitansky-Küster-Hauser syndrome: a case report Hum Reprod 22 2007 224 229 (Pubitemid 44942690)
    • (2007) Human Reproduction , vol.22 , Issue.1 , pp. 224-229
    • Biason-Lauber, A.1    De Filippo, G.2    Konrad, D.3    Scarano, G.4    Nazzaro, A.5    Schoenle, E.J.6
  • 3
    • 40849126622 scopus 로고    scopus 로고
    • Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Mullerian duct abnormalities: A French collaborative study
    • DOI 10.1210/jc.2007-2023
    • P. Philibert, A. Biason-Lauber, R. Rouzier, C. Pienkowski, F. Paris, and D. Konrad Identification and functional analysis of a new wnt4 gene mutation among 28 adolescent girls with primary amenorrhea and mullerian duct abnormalities: a French collaborative study J Clin Endocrinol Metab 93 2008 895 900 (Pubitemid 351398569)
    • (2008) Journal of Clinical Endocrinology and Metabolism , vol.93 , Issue.3 , pp. 895-900
    • Philibert, P.1    Biason-Lauber, A.2    Rouzier, R.3    Pienkowski, C.4    Paris, F.5    Konrad, D.6    Schoenle, E.7    Sultan, C.8
  • 4
    • 33746808398 scopus 로고    scopus 로고
    • Wnt/beta-catenin signaling in development and disease
    • H. Clevers Wnt/beta-catenin signaling in development and disease Cell 127 2006 469 480
    • (2006) Cell , vol.127 , pp. 469-480
    • Clevers, H.1
  • 5
    • 0041508536 scopus 로고    scopus 로고
    • Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad
    • DOI 10.1242/dev.00591
    • K. Jeays-Ward, C. Hoyle, J. Brennan, M. Dandonneau, G. Alldus, and B. Capel Endothelial and steroidogenic cell migration are regulated by Wnt4 in the developing mammalian gonad Development 130 2003 3663 3670 (Pubitemid 37039072)
    • (2003) Development , vol.130 , Issue.16 , pp. 3663-3670
    • Jeays-Ward, K.1    Hoyle, C.2    Brennan, J.3    Dandonneau, M.4    Alldus, G.5    Capel, B.6    Swain, A.7
  • 6
    • 0033521967 scopus 로고    scopus 로고
    • Female development in mammals is regulated by Wnt-4 signalling
    • S. Vainio, M. Heikkila, A. Kispert, N. Chin, and A.P. McMahon Female development in mammals is regulated by Wnt-4 signalling Nature 397 1999 405 409
    • (1999) Nature , vol.397 , pp. 405-409
    • Vainio, S.1    Heikkila, M.2    Kispert, A.3    Chin, N.4    McMahon, A.P.5
  • 8
    • 63449110882 scopus 로고    scopus 로고
    • Mutational analysis of the wnt gene family in women with Mayer-Rokitansky-Küster-Hauser syndrome
    • C. Ravel, D. Lorenco, L. Dessolle, J. Mandelbaum, K. McElreavey, and E. Darai Mutational analysis of the wnt gene family in women with Mayer-Rokitansky-Küster-Hauser syndrome Fertil Steril 91 2009 1604 1607
    • (2009) Fertil Steril , vol.91 , pp. 1604-1607
    • Ravel, C.1    Lorenco, D.2    Dessolle, L.3    Mandelbaum, J.4    McElreavey, K.5    Darai, E.6
  • 11
    • 60749088933 scopus 로고    scopus 로고
    • Mayer-Rokitansky-Küster-Hauser syndrome: Recent clinical and genetic findings
    • C. Sultan, A. Biason-Lauber, and P. Philibert Mayer-Rokitansky- Küster-Hauser syndrome: recent clinical and genetic findings Gynecol Endocrinol 25 2009 8 11
    • (2009) Gynecol Endocrinol , vol.25 , pp. 8-11
    • Sultan, C.1    Biason-Lauber, A.2    Philibert, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.