-
1
-
-
0025938481
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|