메뉴 건너뛰기




Volumn 346, Issue 1-2, 2011, Pages 102-109

Genetic counseling for isolated GnRH deficiency

Author keywords

Genetic counseling; GnRH deficiency; Kallmann syndrome

Indexed keywords

GONADORELIN;

EID: 80053386384     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2011.05.041     Document Type: Review
Times cited : (35)

References (36)
  • 2
    • 0028872836 scopus 로고    scopus 로고
    • American Society of Human Genetics Board of Directors and the American College of Medical Genetics Board of Directors, 1995. Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am. J. Hum. Genet. 57, 1233-41.
    • American Society of Human Genetics Board of Directors and the American College of Medical Genetics Board of Directors, 1995. Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am. J. Hum. Genet. 57, 1233-41.
  • 3
    • 0030638686 scopus 로고    scopus 로고
    • Stress and Genetic Testing for Disease Risk
    • Baum A., Friedman A.L., Zakowski S.G. Stress and Genetic Testing for Disease Risk. Health Psychol. 1997, 16(1):8-19.
    • (1997) Health Psychol. , vol.16 , Issue.1 , pp. 8-19
    • Baum, A.1    Friedman, A.L.2    Zakowski, S.G.3
  • 4
    • 34548304105 scopus 로고    scopus 로고
    • Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function
    • Bédécarrats G.Y., Kaiser U.B. Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function. Semin. Reprod. Med. 2007, 25:368-378.
    • (2007) Semin. Reprod. Med. , vol.25 , pp. 368-378
    • Bédécarrats, G.Y.1    Kaiser, U.B.2
  • 6
    • 58149287989 scopus 로고    scopus 로고
    • Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1
    • Canto P., Munguia P., Soderlund D., Castro J.J., Mendez J.P. Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. J. Androl. 2009, 30:41-45.
    • (2009) J. Androl. , vol.30 , pp. 41-45
    • Canto, P.1    Munguia, P.2    Soderlund, D.3    Castro, J.J.4    Mendez, J.P.5
  • 10
    • 0030698188 scopus 로고    scopus 로고
    • A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
    • de Roux N., Young J., Misrahi M., Genet R., Chanson P., Schaison G., Milgrom E. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N. Engl. J. Med. 1997, 337:1597-1602.
    • (1997) N. Engl. J. Med. , vol.337 , pp. 1597-1602
    • de Roux, N.1    Young, J.2    Misrahi, M.3    Genet, R.4    Chanson, P.5    Schaison, G.6    Milgrom, E.7
  • 11
    • 0141814637 scopus 로고    scopus 로고
    • Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
    • de Roux N., Genin E., Carel J-C., Fumihiko Matsuda F., Chaussain J-L., Milgrom E. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. PNAS 2003, 100(19):10972-10976.
    • (2003) PNAS , vol.100 , Issue.19 , pp. 10972-10976
    • de Roux, N.1    Genin, E.2    Carel, J.-C.3    Fumihiko Matsuda, F.4    Chaussain, J.-L.5    Milgrom, E.6
  • 15
    • 0031016660 scopus 로고    scopus 로고
    • Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadtropin-releasing hormone deficiency
    • Georgopoulos N.A., Pralong F.P., Seidman C.E., Crowley W.F., Vallejo M. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadtropin-releasing hormone deficiency. J. Clin. Endocrinol. Metab. 1997, 82(1):213-217.
    • (1997) J. Clin. Endocrinol. Metab. , vol.82 , Issue.1 , pp. 213-217
    • Georgopoulos, N.A.1    Pralong, F.P.2    Seidman, C.E.3    Crowley, W.F.4    Vallejo, M.5
  • 21
    • 84892917936 scopus 로고    scopus 로고
    • Isolated gonadotropin-releasing hormone (GnRH) deficiency overview
    • Seattle, WA, R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.)
    • Pallais J.C., Au M., Pitteloud N., Seminara S., Crowley W.F. Isolated gonadotropin-releasing hormone (GnRH) deficiency overview. Gene Rev. [Internet] 2010, Seattle, WA. R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
    • (2010) Gene Rev. [Internet]
    • Pallais, J.C.1    Au, M.2    Pitteloud, N.3    Seminara, S.4    Crowley, W.F.5
  • 25
    • 45749111417 scopus 로고    scopus 로고
    • The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
    • Pedersen-White J.R., Chorich L.P., Bick D.P., Sherins R.J., Layman L.C. The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Mol. Hum. Repro. 2008, 14(6):367-370.
    • (2008) Mol. Hum. Repro. , vol.14 , Issue.6 , pp. 367-370
    • Pedersen-White, J.R.1    Chorich, L.P.2    Bick, D.P.3    Sherins, R.J.4    Layman, L.C.5
  • 34
    • 76649143447 scopus 로고    scopus 로고
    • Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1
    • Trarbach E.B., Teles M.G., Frade Costa E.M., Abreu A.P., Garmes H.M., Guerre-Junior G., Matias Baptista M.T., de Castro M., Mendonca B.B., Latronico A.C. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. Clin. Endocrinol. 2010, 72:371-376.
    • (2010) Clin. Endocrinol. , vol.72 , pp. 371-376
    • Trarbach, E.B.1    Teles, M.G.2    Frade Costa, E.M.3    Abreu, A.P.4    Garmes, H.M.5    Guerre-Junior, G.6    Matias Baptista, M.T.7    de Castro, M.8    Mendonca, B.B.9    Latronico, A.C.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.