메뉴 건너뛰기




Volumn 98, Issue 5, 2013, Pages 1860-1862

Clinical genetic testing for Kallmann syndrome

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR 54; GONADORELIN; GONADORELIN RECEPTOR;

EID: 84877716105     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-1624     Document Type: Review
Times cited : (26)

References (19)
  • 1
    • 0025938481 scopus 로고
    • A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
    • Franco B, Guioli S, Pragliola A, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 1991;353:529-536.
    • (1991) Nature , vol.353 , pp. 529-536
    • Franco, B.1    Guioli, S.2    Pragliola, A.3
  • 2
    • 0025940669 scopus 로고
    • The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
    • Legouis R, Hardelin JP, Levilliers J, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell. 1991;67:423-435.
    • (1991) Cell , vol.67 , pp. 423-435
    • Legouis, R.1    Hardelin, J.P.2    Levilliers, J.3
  • 3
    • 0026642442 scopus 로고
    • Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
    • Bick D, Franco B, Sherins RS, et al. Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med. 1992;326:1752-1755.
    • (1992) N Engl J Med , vol.326 , pp. 1752-1755
    • Bick, D.1    Franco, B.2    Sherins, R.S.3
  • 4
    • 0026701165 scopus 로고
    • X Chromosome-linked Kallmann syndrome: Stop mutations validate the candidate gene
    • Hardelin JP, Levilliers J, del Castillo I, et al. X Chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. Proc Natl Acad Sci USA. 1992;89:8190-8194.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 8190-8194
    • Hardelin, J.P.1    Levilliers, J.2    Del Castillo, I.3
  • 5
    • 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, et al. 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
  • 6
    • 17144439793 scopus 로고    scopus 로고
    • Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
    • Layman LC, Cohen DP, Jin M, et al. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nat Genet. 1998;18:14-15.
    • (1998) Nat Genet , vol.18 , pp. 14-15
    • Layman, L.C.1    Cohen, D.P.2    Jin, M.3
  • 7
    • 84876397225 scopus 로고    scopus 로고
    • The genetic basis of female reproductive disorders: Etiology and clinical relevance [published online ahead of print March 11, 2013]
    • doi: 10.1016/j.mce.2013.02.016
    • Layman LC. The genetic basis of female reproductive disorders: etiology and clinical relevance [published online ahead of print March 11, 2013]. Mol Cell Endocrinol. doi: 10.1016/j.mce.2013.02.016.
    • Mol Cell Endocrinol.
    • Layman, L.C.1
  • 8
    • 33846841151 scopus 로고    scopus 로고
    • Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
    • Pitteloud N, Quinton R, Pearce S, et al. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest. 2007;117:457-463.
    • (2007) J Clin Invest , vol.117 , pp. 457-463
    • Pitteloud, N.1    Quinton, R.2    Pearce, S.3
  • 9
    • 82455162354 scopus 로고    scopus 로고
    • The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
    • Quaynor SD, Kim HG, Cappello EM, et al. The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Fertil Steril. 2011;96:1424-1430 e1426.
    • (2011) Fertil Steril , vol.96 , pp. 1424-1430
    • Quaynor, S.D.1    Kim, H.G.2    Cappello, E.M.3
  • 10
    • 84878473132 scopus 로고    scopus 로고
    • Identification of HESX1 mutations in Kallmann syndrome [published online ahead of print March 1, 2013]
    • doi: 10.1016/j.fertnstert.2013.01.149
    • Newbern K, Natrajan N, Kim HG, et al. Identification of HESX1 mutations in Kallmann syndrome [published online ahead of print March 1, 2013]. Fertil Steril. doi: 10.1016/j.fertnstert.2013.01.149
    • Fertil Steril.
    • Newbern, K.1    Natrajan, N.2    Kim, H.G.3
  • 11
    • 84877703101 scopus 로고    scopus 로고
    • Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotype
    • Costa-Barbosa F, Balasubramanian R, Keefe KW, et al. Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotype. J Clin Endocrinol Metab. 2013;98:E943-953
    • (2013) J Clin Endocrinol Metab , vol.98
    • Costa-Barbosa, F.1    Balasubramanian, R.2    Keefe, K.W.3
  • 12
    • 0027477310 scopus 로고
    • Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome
    • Hardelin JP, Levilliers J, Blanchard S, et al. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet. 1993;2:373-377.
    • (1993) Hum Mol Genet , vol.2 , pp. 373-377
    • Hardelin, J.P.1    Levilliers, J.2    Blanchard, S.3
  • 13
    • 4444239112 scopus 로고    scopus 로고
    • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
    • Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955-957.
    • (2004) Nat Genet , vol.36 , pp. 955-957
    • Vissers, L.E.1    Van Ravenswaaij, C.M.2    Admiraal, R.3
  • 14
    • 53249149000 scopus 로고    scopus 로고
    • Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
    • Kim HG, Kurth I, Lan F, et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008;83:511-519.
    • (2008) Am J Hum Genet , vol.83 , pp. 511-519
    • Kim, H.G.1    Kurth, I.2    Lan, F.3
  • 15
    • 20244366799 scopus 로고    scopus 로고
    • Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
    • Dode C, Levilliers J, Dupont JM, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003;33:463-465.
    • (2003) Nat Genet , vol.33 , pp. 463-465
    • Dode, C.1    Levilliers, J.2    Dupont, J.M.3
  • 16
    • 53749103334 scopus 로고    scopus 로고
    • Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome
    • Abreu AP, Trarbach EB, de Castro M, et al. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J Clin Endocrinol Metab. 2008;93:4113-4118.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 4113-4118
    • Abreu, A.P.1    Trarbach, E.B.2    De Castro, M.3
  • 17
    • 33750471153 scopus 로고    scopus 로고
    • Kallmann syndrome: Mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
    • Dode C, Teixeira L, Levilliers J, et al. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet. 2006;2:e175.
    • (2006) PLoS Genet , vol.2
    • Dode, C.1    Teixeira, L.2    Levilliers, J.3
  • 18
    • 33847659272 scopus 로고    scopus 로고
    • KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans
    • Bhagavath B, Xu N, Ozata M, et al. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. Mol Hum Reprod. 2007;13:165-170.
    • (2007) Mol Hum Reprod , vol.13 , pp. 165-170
    • Bhagavath, B.1    Xu, N.2    Ozata, M.3
  • 19
    • 73349138875 scopus 로고    scopus 로고
    • Exome sequencing makes medical genomics a reality
    • Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet. 2010;42:13-14.
    • (2010) Nat Genet , vol.42 , pp. 13-14
    • Biesecker, L.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.