-
3
-
-
39349113821
-
Clinical manifestations of impaired GnRH neuron development and function
-
Kim H.G., Bhagavath B., Layman L.C. Clinical manifestations of impaired GnRH neuron development and function. Neurosignals 2008, 16:165-182.
-
(2008)
Neurosignals
, vol.16
, pp. 165-182
-
-
Kim, H.G.1
Bhagavath, B.2
Layman, L.C.3
-
4
-
-
32944478440
-
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism
-
Bhagavath B., Podolsky R.H., Ozata M., et al. Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. Fertil. Steril. 2006, 85:706-713.
-
(2006)
Fertil. Steril.
, vol.85
, pp. 706-713
-
-
Bhagavath, B.1
Podolsky, R.H.2
Ozata, M.3
-
5
-
-
45749111417
-
The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
-
Pedersen-White J.R., Chorich L.P., Bick D.P., et al. The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Mol. Hum. Reprod. 2008, 14:367-370.
-
(2008)
Mol. Hum. Reprod.
, vol.14
, pp. 367-370
-
-
Pedersen-White, J.R.1
Chorich, L.P.2
Bick, D.P.3
-
6
-
-
33847659272
-
KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypo-gonadism in humans
-
Bhagavath B., Xu N., Ozata M., et al. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypo-gonadism in humans. Mol. Hum. Reprod. 2007, 13:25-30.
-
(2007)
Mol. Hum. Reprod.
, vol.13
, pp. 25-30
-
-
Bhagavath, B.1
Xu, N.2
Ozata, M.3
-
7
-
-
0027477310
-
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome
-
Hardelin J.P., 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
-
8
-
-
0031016660
-
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
-
Georgopoulos N.A., Pralong F.P., Seidman C.E., et al. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J. Clin. Endocrinol. Metab. 1997, 82:213-217.
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 213-217
-
-
Georgopoulos, N.A.1
Pralong, F.P.2
Seidman, C.E.3
-
9
-
-
17744378347
-
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idio-pathic hypogonadotropic hypogonadism
-
Beranova M., Oliveira L.M., Bedecarrats G.Y., et al. Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idio-pathic hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. 2001, 86:1580-1588.
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, pp. 1580-1588
-
-
Beranova, M.1
Oliveira, L.M.2
Bedecarrats, G.Y.3
-
10
-
-
9444238033
-
The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons
-
Cariboni A., Pimpinelli F., Colamarino S., et al. The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. Hum. Mol. Genet. 2004, 13:2781-2791.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2781-2791
-
-
Cariboni, A.1
Pimpinelli, F.2
Colamarino, S.3
-
11
-
-
20244366799
-
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
Dode C., Levilliers J., Dupont J.M., 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
-
12
-
-
33646567190
-
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
-
Pitteloud N., Acierno J.S., Meysing A., et al. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc. Natl. Acad. Sci. USA 2006, 103:6281-6286.
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 6281-6286
-
-
Pitteloud, N.1
Acierno, J.S.2
Meysing, A.3
-
13
-
-
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
-
14
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers L.E., van Ravenswaaij C.M., 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
-
15
-
-
33845968521
-
Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation
-
Ogata T., Fujiwara I., Ogawa E., et al. Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocr. J. 2006, 53:741-743.
-
(2006)
Endocr. J.
, vol.53
, pp. 741-743
-
-
Ogata, T.1
Fujiwara, I.2
Ogawa, E.3
-
16
-
-
53249149000
-
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypo-gonadotropic hypogonadism and Kallmann syndrome
-
Kim H.G., Kurth I., Lan F., et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypo-gonadotropic 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
-
17
-
-
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
-
18
-
-
17144439793
-
Mutations in the gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
-
Layman L.C., Cohen D.P., Jin M., et al. Mutations in the 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
-
19
-
-
26244448074
-
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism
-
Bhagavath B., Ozata M., Ozdemir I.C., et al. The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. Fertil. Steril. 2005, 84:951-957.
-
(2005)
Fertil. Steril.
, vol.84
, pp. 951-957
-
-
Bhagavath, B.1
Ozata, M.2
Ozdemir, I.C.3
-
20
-
-
0028598360
-
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
-
Muscatelli F., Strom T.M., Walker A.P., et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994, 372:672-676.
-
(1994)
Nature
, vol.372
, pp. 672-676
-
-
Muscatelli, F.1
Strom, T.M.2
Walker, A.P.3
-
21
-
-
0033305636
-
Mutational analy- sis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay
-
Achermann J.C., Gu W.X., Kotlar T.J., et al. Mutational analy- sis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J. Clin. Endocrinol. Metab. 1999, 84:4497-4500.
-
(1999)
J. Clin. Endocrinol. Metab.
, vol.84
, pp. 4497-4500
-
-
Achermann, J.C.1
Gu, W.X.2
Kotlar, T.J.3
-
22
-
-
0141814637
-
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
-
de Roux N., Genin E., Carel J.C., et al. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc. Natl. Acad. Sci. USA 2003, 100:10972-10976.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 10972-10976
-
-
de Roux, N.1
Genin, E.2
Carel, J.C.3
-
24
-
-
0034661199
-
Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons
-
Kramer P.R., Wray S. Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons. Genes. Dev. 2000, 14:1824-1834.
-
(2000)
Genes. Dev.
, vol.14
, pp. 1824-1834
-
-
Kramer, P.R.1
Wray, S.2
-
25
-
-
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
-
26
-
-
48749120107
-
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
-
Falardeau J., Chung W.C., Beenken A., et al. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J. Clin. Invest. 2008, 118:2822-2831.
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 2822-2831
-
-
Falardeau, J.1
Chung, W.C.2
Beenken, A.3
-
27
-
-
61349091041
-
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction
-
Topaloglu A.K., Reimann F., Guclu M., et al. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction. Nat. Genet. 2008, 41:354-358.
-
(2008)
Nat. Genet.
, vol.41
, pp. 354-358
-
-
Topaloglu, A.K.1
Reimann, F.2
Guclu, M.3
-
28
-
-
67649390886
-
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation
-
Bouligand J., Ghervan C., Tello J.A., et al. Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. N. Engl. J. Med. 2009, 360:2742-2748.
-
(2009)
N. Engl. J. Med.
, vol.360
, pp. 2742-2748
-
-
Bouligand, J.1
Ghervan, C.2
Tello, J.A.3
-
29
-
-
67650917931
-
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism
-
Chan Y.M., de Guillebon A., Lang-Muritano M., et al. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc. Natl. Acad. Sci. USA 2009, 106:11703-11708.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 11703-11708
-
-
Chan, Y.M.1
de Guillebon, A.2
Lang-Muritano, M.3
-
30
-
-
0023023132
-
A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the hpg mouse
-
Mason A.J., Hayflick J.S., Zoeller T., et al. A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the hpg mouse. Science 1986, 234:1366-1371.
-
(1986)
Science
, vol.234
, pp. 1366-1371
-
-
Mason, A.J.1
Hayflick, J.S.2
Zoeller, T.3
-
32
-
-
0026906868
-
Kallmann syndrome due to a translocation resulting in an X/Y fusion gene
-
Guioli S., Incerti B., Zanaria E., et al. Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nat. Genet. 1992, 1:337-340.
-
(1992)
Nat. Genet.
, vol.1
, pp. 337-340
-
-
Guioli, S.1
Incerti, B.2
Zanaria, E.3
-
33
-
-
0027446921
-
Kallmann syndrome associated with complex chromosome rearrangement
-
Casamassima A.C., Wilmot P.L., Vibert B.K., et al. Kallmann syndrome associated with complex chromosome rearrangement. Am. J. Med. Genet. 1993, 45:539-541.
-
(1993)
Am. J. Med. Genet.
, vol.45
, pp. 539-541
-
-
Casamassima, A.C.1
Wilmot, P.L.2
Vibert, B.K.3
-
34
-
-
0027619827
-
Chromosomal translocation t(13;16) in a patient with idiopathic hypogonadotropic hypogonadism
-
Kikuchi I., Nagamine M., Ueda A., et al. Chromosomal translocation t(13;16) in a patient with idiopathic hypogonadotropic hypogonadism. Intern. Med. 1993, 32:465-467.
-
(1993)
Intern. Med.
, vol.32
, pp. 465-467
-
-
Kikuchi, I.1
Nagamine, M.2
Ueda, A.3
-
35
-
-
0028476093
-
A case of hypogonadism with a translocation: t(4; 12) (q25; q24.2)
-
Elbistan M., Aydin M., Bagci H., et al. A case of hypogonadism with a translocation: t(4; 12) (q25; q24.2). Indian. J. Pediatr. 1994, 61:421-426.
-
(1994)
Indian. J. Pediatr.
, vol.61
, pp. 421-426
-
-
Elbistan, M.1
Aydin, M.2
Bagci, H.3
-
36
-
-
0028800475
-
Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting
-
Schinzel A., Lorda-Sanchez I., Binkert F., et al. Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting. J. Med. Genet. 1995, 32:957-961.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 957-961
-
-
Schinzel, A.1
Lorda-Sanchez, I.2
Binkert, F.3
-
37
-
-
0034063024
-
Complex chromosomal translocation in a patient with Kallmann syndrome
-
Kroisel P.M., Petek E., Wagner K., et al. Complex chromosomal translocation in a patient with Kallmann syndrome. Am. J. Med. Genet. 2000, 91:240.
-
(2000)
Am. J. Med. Genet.
, vol.91
, pp. 240
-
-
Kroisel, P.M.1
Petek, E.2
Wagner, K.3
-
38
-
-
0036532031
-
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion
-
Vermeulen S., Messiaen L., Scheir P., et al. Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion. Am. J. Med. Genet. 2002, 108:315-318.
-
(2002)
Am. J. Med. Genet.
, vol.108
, pp. 315-318
-
-
Vermeulen, S.1
Messiaen, L.2
Scheir, P.3
-
39
-
-
0038819067
-
Inv(10) in a patient with hypogonadotropic hypogonadism
-
Helszer Z., Lach J., Nowacka J., et al. Inv(10) in a patient with hypogonadotropic hypogonadism. J. Appl. Genet. 2003, 44:225-229.
-
(2003)
J. Appl. Genet.
, vol.44
, pp. 225-229
-
-
Helszer, Z.1
Lach, J.2
Nowacka, J.3
-
40
-
-
20944431861
-
Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers
-
Talaban R., Sellick G.S., Spendlove H.E., et al. Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers. Cytogenet. Genome. Res. 2005, 109:480-484.
-
(2005)
Cytogenet. Genome. Res.
, vol.109
, pp. 480-484
-
-
Talaban, R.1
Sellick, G.S.2
Spendlove, H.E.3
-
41
-
-
23744496857
-
Hypogonadism and cleft lip and palate due to balanced translocation producing haploinsufficiency for FGFR1
-
Kim H.G., Herick S.R., Lemyre E., et al. Hypogonadism and cleft lip and palate due to balanced translocation producing haploinsufficiency for FGFR1. J. Med. Genet. 2005, 42:666-672.
-
(2005)
J. Med. Genet.
, vol.42
, pp. 666-672
-
-
Kim, H.G.1
Herick, S.R.2
Lemyre, E.3
|