-
2
-
-
0034978722
-
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: Spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor
-
Pitteloud N, Boepple PA, Decruz S, Valkenburgh SB, Crowley WF Jr & Hayes FJ. The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. Journal of Clinical Endocrinology and Metabolism 2001 86 2470-2474.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, pp. 2470-2474
-
-
Pitteloud, N.1
Boepple, P.A.2
Decruz, S.3
Valkenburgh, S.B.4
Crowley Jr., W.F.5
Hayes, F.J.6
-
3
-
-
0036149989
-
The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism
-
Pitteloud N, Hayes FJ, Boepple PA, Decruz S, Seminara SB, MacLaughlin DT & Crowley WF Jr. The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism 2002 87 152-160.
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, pp. 152-160
-
-
Pitteloud, N.1
Hayes, F.J.2
Boepple, P.A.3
Decruz, S.4
Seminara, S.B.5
MacLaughlin, D.T.6
Crowley Jr., W.F.7
-
4
-
-
17744373868
-
The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics
-
Oliveira LMB, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF Jr & Vallejo M. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. Journal of Clinical Endocrinology and Metabolism 2001 86 1532-1538.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, pp. 1532-1538
-
-
Oliveira, L.M.B.1
Seminara, S.B.2
Beranova, M.3
Hayes, F.J.4
Valkenburgh, S.B.5
Schipani, E.6
Costa, E.M.7
Latronico, A.C.8
Crowley Jr., W.F.9
Vallejo, M.10
-
5
-
-
17744378347
-
Prevalence, phenotypic spectrum, and modes of inheritance of GnRH receptor mutations in idiopathic hypogonadotropic hypogonadism
-
Beranova M, Oliveira LMB, Bedecarrats GY, Schipani E, Vallejo M, Ammini AC, Quintos JB, Hall JE, Martin KA, Hayes FJ, Pitteloud N, Kaiser UB, Crowley WF Jr & Seminara SB. Prevalence, phenotypic spectrum, and modes of inheritance of GnRH receptor mutations in idiopathic hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism 2001 86 1580-1588.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, pp. 1580-1588
-
-
Beranova, M.1
Oliveira, L.M.B.2
Bedecarrats, G.Y.3
Schipani, E.4
Vallejo, M.5
Ammini, A.C.6
Quintos, J.B.7
Hall, J.E.8
Martin, K.A.9
Hayes, F.J.10
Pitteloud, N.11
Kaiser, U.B.12
Crowley Jr., W.F.13
Seminara, S.B.14
-
6
-
-
0034828721
-
Idiopathic gonadotrophin deficiency: Genetic questions addressed through phenotypic characterization
-
Quinton R, Duke VM, Robertson A, Kirk JMW, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS, Besser M, Stanhope RG & Bouloux P-MG. Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization. Clinical Endocrinology 2001 55 163-174.
-
(2001)
Clinical Endocrinology
, vol.55
, pp. 163-174
-
-
Quinton, R.1
Duke, V.M.2
Robertson, A.3
Kirk, J.M.W.4
Matfin, G.5
De Zoysa, P.A.6
Azcona, C.7
MacColl, G.S.8
Jacobs, H.S.9
Conway, G.S.10
Besser, M.11
Stanhope, R.G.12
Bouloux, P.-M.G.13
-
7
-
-
0032695250
-
Gordon Holmes spinocerebellar ataxia: A gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone
-
Quinton R, Barnett P, Coskeran P & Bouloux P-MG. Gordon Holmes spinocerebellar ataxia: a gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone. Clinical Endocrinology 1999 51 525-529.
-
(1999)
Clinical Endocrinology
, vol.51
, pp. 525-529
-
-
Quinton, R.1
Barnett, P.2
Coskeran, P.3
Bouloux, P.-M.G.4
-
8
-
-
20244366799
-
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal HA, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C & Hardelin JP. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nature Genetics 2003 33 463-465.
-
(2003)
Nature Genetics
, vol.33
, pp. 463-465
-
-
Dode, C.1
Levilliers, J.2
Dupont, J.M.3
De Paepe, A.4
Le Du, N.5
Soussi-Yanicostas, N.6
Coimbra, R.S.7
Delmaghani, S.8
Compain-Nouaille, S.9
Baverel, F.10
Pecheux, C.11
Le Tessier, D.12
Cruaud, C.13
Delpech, M.14
Speleman, F.15
Vermeulen, S.16
Amalfitano, A.17
Bachelot, Y.18
Bouchard, P.19
Cabrol, S.20
Carel, J.C.21
Delemarre-van De Waal, H.A.22
Goulet-Salmon, B.23
Kottler, M.L.24
Richard, O.25
Sanchez-Franco, F.26
Saura, R.27
Young, J.28
Petit, C.29
Hardelin, J.P.30
more..
-
9
-
-
0025940669
-
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
-
Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, Bougueleret L, Delemarre-van de Waal HA, Lutfalla G, Weissenbach J & Petit C. 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
Claverie, J.M.4
Compain, S.5
Wunderle, V.6
Millasseau, P.7
Le Paslier, D.8
Cohen, D.9
Caterina, D.10
Bougueleret, L.11
Delemarre-van De Waal, H.A.12
Lutfalla, G.13
Weissenbach, J.14
Petit, C.15
-
10
-
-
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, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Persico MG, Camerino G & Ballabio A. 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
Incerti, B.4
Bardoni, B.5
Tonlorenzi, R.6
Carrozzo, R.7
Maestrini, E.8
Pieretti, M.9
Taillon-Miller, P.10
Brown, C.J.11
Willard, H.F.12
Lawrence, C.13
Persico, M.G.14
Camerino, G.15
Ballabio, A.16
-
11
-
-
0141814637
-
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
-
de Roux N, Genin E, Carel J-C, Matsuda F, Chaussain J-L & Milgrom E. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. PNAS 2003 100 10972-10976.
-
(2003)
PNAS
, vol.100
, pp. 10972-10976
-
-
De Roux, N.1
Genin, E.2
Carel, J.-C.3
Matsuda, F.4
Chaussain, J.-L.5
Milgrom, E.6
-
12
-
-
0142091653
-
The GPR54 gene as a regulator of puberty
-
Seminara SB, Messager SM, Chatzidki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof K, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MBL, Crowley WF Jr, Aparicio SJR & Colledge WH. The GPR54 gene as a regulator of puberty. New England Journal of Medicine 2003 349 1614-1627.
-
(2003)
New England Journal of Medicine
, vol.349
, pp. 1614-1627
-
-
Seminara, S.B.1
Messager, S.M.2
Chatzidki, E.E.3
Thresher, R.R.4
Acierno Jr., J.S.5
Shagoury, J.K.6
Bo-Abbas, Y.7
Kuohung, W.8
Schwinof, K.9
Hendrick, A.G.10
Zahn, D.11
Dixon, J.12
Kaiser, U.B.13
Slaugenhaupt, S.A.14
Gusella, J.F.15
O'Rahilly, S.16
Carlton, M.B.L.17
Crowley Jr., W.F.18
Aparicio, S.J.R.19
Colledge, W.H.20
more..
-
13
-
-
0030698188
-
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. New England Journal of Medicine 1997 337 1597-1602.
-
(1997)
New England Journal of Medicine
, 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
-
14
-
-
10344227112
-
Clinical measurements of the testes in boys and men
-
Hansen PF & With TK. Clinical measurements of the testes in boys and men. Acta Medica Scandinavica 1952 266 457-465.
-
(1952)
Acta Medica Scandinavica
, vol.266
, pp. 457-465
-
-
Hansen, P.F.1
With, T.K.2
-
15
-
-
0029819642
-
The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human
-
Waldstreicher J, Seminara SB, Jameson JL, Geyer A, Nachtigall LB, Boepple PA, Holmes LB & Crowley WF Jr. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. Journal of Clinical Endocrinology and Metabolism 1996 81 4388-4395.
-
(1996)
Journal of Clinical Endocrinology and Metabolism
, vol.81
, pp. 4388-4395
-
-
Waldstreicher, J.1
Seminara, S.B.2
Jameson, J.L.3
Geyer, A.4
Nachtigall, L.B.5
Boepple, P.A.6
Holmes, L.B.7
Crowley Jr., W.F.8
-
16
-
-
0033059856
-
Free alpha-subunit is superior to luteinizing hormone as a marker of gonadotropin-releasing hormone despite desensitization at fast pulse frequencies
-
Hayes FJ, McNicholl DJ, Schoenfeld D, Marsh EE & Hall JE. Free alpha-subunit is superior to luteinizing hormone as a marker of gonadotropin-releasing hormone despite desensitization at fast pulse frequencies. Journal of Clinical Endocrinology and Metabolism 1999 84 1028-1036.
-
(1999)
Journal of Clinical Endocrinology and Metabolism
, vol.84
, pp. 1028-1036
-
-
Hayes, F.J.1
McNicholl, D.J.2
Schoenfeld, D.3
Marsh, E.E.4
Hall, J.E.5
-
17
-
-
0021252023
-
Neuroendocrine regulation of the corpus luteum in the human. Evidence for pulsatile progesterone secretion
-
Filicori M, Butler JP & Crowley WF Jr. Neuroendocrine regulation of the corpus luteum in the human. Evidence for pulsatile progesterone secretion. Journal of Clinical Investigation 1984 73 1638-1647.
-
(1984)
Journal of Clinical Investigation
, vol.73
, pp. 1638-1647
-
-
Filicori, M.1
Butler, J.P.2
Crowley Jr., W.F.3
-
18
-
-
0037197904
-
Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1
-
Bulow HE, Berry KL, Topper LH, Peles E & Hobert O. Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1. PNAS 2002 99 6346-6351.
-
(2002)
PNAS
, vol.99
, pp. 6346-6351
-
-
Bulow, H.E.1
Berry, K.L.2
Topper, L.H.3
Peles, E.4
Hobert, O.5
-
19
-
-
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, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI & Maggi R. The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. Human Molecular Genetics 2004 13 2781-2791.
-
(2004)
Human Molecular Genetics
, vol.13
, pp. 2781-2791
-
-
Cariboni, A.1
Pimpinelli, F.2
Colamarino, S.3
Zaninetti, R.4
Piccolella, M.5
Rumio, C.6
Piva, F.7
Rugarli, E.I.8
Maggi, R.9
-
20
-
-
9244247298
-
Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism
-
Gonzalez-Martinez D, Kim SH, Hu Y, Guimond S, Schofield J, Winyard P, Vannelli GB, Turnbull J & Bouloux PM. Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism. Journal of Neuroscience 2004 24 10384-10392.
-
(2004)
Journal of Neuroscience
, vol.24
, pp. 10384-10392
-
-
Gonzalez-Martinez, D.1
Kim, S.H.2
Hu, Y.3
Guimond, S.4
Schofield, J.5
Winyard, P.6
Vannelli, G.B.7
Turnbull, J.8
Bouloux, P.M.9
-
21
-
-
4344561363
-
A role for kisspeptins in the regulation of gonadotropin secretion in the mouse
-
Gottsch ML, Cunningham MJ, Smith JT, Popa SM, Acohido BV, Crowley WF, Clifton DK & Steiner RA. A role for kisspeptins in the regulation of gonadotropin secretion in the mouse. Endocrinology 2004 145 4073-4077.
-
(2004)
Endocrinology
, vol.145
, pp. 4073-4077
-
-
Gottsch, M.L.1
Cunningham, M.J.2
Smith, J.T.3
Popa, S.M.4
Acohido, B.V.5
Crowley, W.F.6
Clifton, D.K.7
Steiner, R.A.8
-
22
-
-
4644289298
-
Developmental and hormonally regulated messenger ribonucleic acid expression of KiSS-1 and its putative receptor, GPR54, in rat hypothalamus and potent luteinizing hormone-releasing activity of KiSS-1 peptide
-
Navarro VM, Castellano JM, Fernandez-Fernandez R, Barriero ML, Roa J, Sanchez-Criado JE, Aquilar E, Dieguez C, Pinilla L & Tena-Sempere M. Developmental and hormonally regulated messenger ribonucleic acid expression of KiSS-1 and its putative receptor, GPR54, in rat hypothalamus and potent luteinizing hormone-releasing activity of KiSS-1 peptide. Endocrinology 2004 145 4565-4574.
-
(2004)
Endocrinology
, vol.145
, pp. 4565-4574
-
-
Navarro, V.M.1
Castellano, J.M.2
Fernandez-Fernandez, R.3
Barriero, M.L.4
Roa, J.5
Sanchez-Criado, J.E.6
Aquilar, E.7
Dieguez, C.8
Pinilla, L.9
Tena-Sempere, M.10
-
23
-
-
2942750179
-
Peripheral administration of metastin induces marked gonadotropin release and ovulation in the rat
-
Matsui H, Takatsu Y, Kumano S, Matsumoto H & Ohtaki T. Peripheral administration of metastin induces marked gonadotropin release and ovulation in the rat. Biochemical and Biophysical Research Communications 2004 320 383-388.
-
(2004)
Biochemical and Biophysical Research Communications
, vol.320
, pp. 383-388
-
-
Matsui, H.1
Takatsu, Y.2
Kumano, S.3
Matsumoto, H.4
Ohtaki, T.5
-
24
-
-
8544235028
-
Central and peripheral administration of kisspeptin-10 stimulates the hypothalamic-pituitary-gonadal axis
-
Thompson EL, Patterson M, Murphy KG, Smith KL, Dhillo WS, Todd JF, Ghatei MA & Bloom SR. Central and peripheral administration of kisspeptin-10 stimulates the hypothalamic-pituitary-gonadal axis. Journal of Neuroendocrinology 2004 16 850-858.
-
(2004)
Journal of Neuroendocrinology
, vol.16
, pp. 850-858
-
-
Thompson, E.L.1
Patterson, M.2
Murphy, K.G.3
Smith, K.L.4
Dhillo, W.S.5
Todd, J.F.6
Ghatei, M.A.7
Bloom, S.R.8
-
25
-
-
13244255747
-
Kisspeptin activation of gonadotropin releasing hormone neurons and regulation of KiSS-1 mRNA in the male rat
-
Irwig MS, Fraley GS, Smith JT, Acohido BV, Popa SM, Cunningham MJ, Gottsch ML, Clifton DK & Steiner RA. Kisspeptin activation of gonadotropin releasing hormone neurons and regulation of KiSS-1 mRNA in the male rat. Neuroendocrinology 2004 80 264-272.
-
(2004)
Neuroendocrinology
, vol.80
, pp. 264-272
-
-
Irwig, M.S.1
Fraley, G.S.2
Smith, J.T.3
Acohido, B.V.4
Popa, S.M.5
Cunningham, M.J.6
Gottsch, M.L.7
Clifton, D.K.8
Steiner, R.A.9
-
26
-
-
10644284011
-
Advanced vaginal opening and precocious activation of the reproductive axis by KiSS-1 peptide, the endogenous ligand of GPR54
-
Navarro VM, Ferndandez-Fernandez R, Castellano JM, Roa J, Mayen A, Barreiro ML, Gaytan F, Aguilar E, Pinilla L, Dieguez C & Tena-Sempere M. Advanced vaginal opening and precocious activation of the reproductive axis by KiSS-1 peptide, the endogenous ligand of GPR54. Journal of Physiology 2004 561 379-386.
-
(2004)
Journal of Physiology
, vol.561
, pp. 379-386
-
-
Navarro, V.M.1
Ferndandez-Fernandez, R.2
Castellano, J.M.3
Roa, J.4
Mayen, A.5
Barreiro, M.L.6
Gaytan, F.7
Aguilar, E.8
Pinilla, L.9
Dieguez, C.10
Tena-Sempere, M.11
-
27
-
-
13844317911
-
Increased hypothalamic GPR54 signaling: A potential mechanism for initiation of puberty in primates
-
Shahab M, Mastronardi C, Seminara SB, Crowley WF, Ojeda SR & Plant TM. Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates. PNAS 2005 102 2129-2134.
-
(2005)
PNAS
, vol.102
, pp. 2129-2134
-
-
Shahab, M.1
Mastronardi, C.2
Seminara, S.B.3
Crowley, W.F.4
Ojeda, S.R.5
Plant, T.M.6
-
28
-
-
13444255980
-
Kisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54
-
Messager SM, Chatzidki EE, Ma D, Hendrick AG, Zahn D, Dixon J, Thresher RR, Malinge I, Lomet D, Carlton MBL, Colledge WH, Caraty A & Aparicio SJR. Kisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54. PNAS 2005 102 1761-1766.
-
(2005)
PNAS
, vol.102
, pp. 1761-1766
-
-
Messager, S.M.1
Chatzidki, E.E.2
Ma, D.3
Hendrick, A.G.4
Zahn, D.5
Dixon, J.6
Thresher, R.R.7
Malinge, I.8
Lomet, D.9
Carlton, M.B.L.10
Colledge, W.H.11
Caraty, A.12
Aparicio, S.J.R.13
-
29
-
-
28744448385
-
Kisspeptin-54 stimulates the hypothalamic-pituitary gonadal axis in human males
-
Dhillo WS, Chaudhri OB, Patterson M, Thompson EL, Murphy KG, Badman MK, McGowan BM, Amber V, Patel S, Ghatei MA & Bloom SR. Kisspeptin-54 stimulates the hypothalamic-pituitary gonadal axis in human males. Journal of Clinical Endocrinology and Metabolism 2005 90 6609-6615.
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, pp. 6609-6615
-
-
Dhillo, W.S.1
Chaudhri, O.B.2
Patterson, M.3
Thompson, E.L.4
Murphy, K.G.5
Badman, M.K.6
McGowan, B.M.7
Amber, V.8
Patel, S.9
Ghatei, Ma.10
Bloom, S.R.11
-
30
-
-
0031016660
-
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
-
Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF Jr & Vallejo M. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. Journal of Clinical Endocrinology and Metabolism 1997 82 213-217.
-
(1997)
Journal of Clinical Endocrinology and Metabolism
, vol.82
, pp. 213-217
-
-
Georgopoulos, N.A.1
Pralong, F.P.2
Seidman, C.E.3
Seidman, J.G.4
Crowley Jr., W.F.5
Vallejo, M.6
-
31
-
-
0033305217
-
X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females
-
Seminara SB, Achermann JC, Genel M, Jameson JL & Crowley WF Jr. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. Journal of Clinical Endocrinology and Metabolism 1999 84 4501-4509.
-
(1999)
Journal of Clinical Endocrinology and Metabolism
, vol.84
, pp. 4501-4509
-
-
Seminara, S.B.1
Achermann, J.C.2
Genel, M.3
Jameson, J.L.4
Crowley Jr., W.F.5
-
32
-
-
0036842950
-
Detecting polymorphisms and mutations in candidate genes-letter to the editor
-
Collins JS & Schwartz CE. Detecting polymorphisms and mutations in candidate genes-letter to the editor. American Journal of Human Genetics 2002 71 1251-1252.
-
(2002)
American Journal of Human Genetics
, vol.71
, pp. 1251-1252
-
-
Collins, J.S.1
Schwartz, C.E.2
-
33
-
-
29644447614
-
Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism
-
Lanfranco F, Gromoll J, von Eckardstein S, Herding EM, Nieschlag E & Simoni M. Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism. European Journal of Endocrinology 2005 153 845-852.
-
(2005)
European Journal of Endocrinology
, vol.153
, pp. 845-852
-
-
Lanfranco, F.1
Gromoll, J.2
Von Eckardstein, S.3
Herding, E.M.4
Nieschlag, E.5
Simoni, M.6
-
34
-
-
21644456254
-
Parallel regulation of membrane trafficking and dominant-negative effects by misrouted gonadotropin-releasing hormone receptor mutants
-
Knollmann PE, Janovick JA, Brothers SP & Conn PM. Parallel regulation of membrane trafficking and dominant-negative effects by misrouted gonadotropin-releasing hormone receptor mutants. Journal of Biological Chemistry 2005 280 24506-24514.
-
(2005)
Journal of Biological Chemistry
, vol.280
, pp. 24506-24514
-
-
Knollmann, P.E.1
Janovick, J.A.2
Brothers, S.P.3
Conn, P.M.4
-
35
-
-
0031452036
-
Mutation analysis of the gonadotropin-releasing hormone receptor gene in idiopathic hypogonadotropic hypogonadism
-
Layman LC, Peak DB, Xie J, Sohn SH, Reindollar RH & Gray MR. Mutation analysis of the gonadotropin-releasing hormone receptor gene in idiopathic hypogonadotropic hypogonadism. Fertility and Sterility 1997 68 1079-1085.
-
(1997)
Fertility and Sterility
, vol.68
, pp. 1079-1085
-
-
Layman, L.C.1
Peak, D.B.2
Xie, J.3
Sohn, S.H.4
Reindollar, R.H.5
Gray, M.R.6
-
36
-
-
0033017005
-
The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred
-
de Roux N, Young J, Brailly-Tabard S, Misrahi M, Milgrom E & Schaison G. The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. Journal of Clinical Endocrinology and Metabolism 1999 84 567-572.
-
(1999)
Journal of Clinical Endocrinology and Metabolism
, vol.84
, pp. 567-572
-
-
De Roux, N.1
Young, J.2
Brailly-Tabard, S.3
Misrahi, M.4
Milgrom, E.5
Schaison, G.6
-
37
-
-
0033064884
-
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration
-
Caron P, Chauvin S, Christin-Maitre S, Bennet A, Lahlou N, Counis R, Bouchard P & Kottler ML. Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. Journal of Clinical Endocrinology and Metabolism 1999 84 990-996.
-
(1999)
Journal of Clinical Endocrinology and Metabolism
, vol.84
, pp. 990-996
-
-
Caron, P.1
Chauvin, S.2
Christin-Maitre, S.3
Bennet, A.4
Lahlou, N.5
Counis, R.6
Bouchard, P.7
Kottler, M.L.8
-
38
-
-
0034454605
-
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations
-
Seminara SB, Beranova M, Oliveira LMB, Martin KA, Crowley WF Jr & Hall JE. Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. Journal of Clinical Endocrinology and Metabolism 2000 85 556-562.
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, pp. 556-562
-
-
Seminara, S.B.1
Beranova, M.2
Oliveira, L.M.B.3
Martin, K.A.4
Crowley Jr., W.F.5
Hall, J.E.6
-
39
-
-
0036283673
-
Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin releasing hormone receptor gene
-
Dewailly D, Boucher A, Decanter C, Lagarde JP, Counis R & Kottler ML. Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin releasing hormone receptor gene. Fertility and Sterility 2002 77 1288-1291.
-
(2002)
Fertility and Sterility
, vol.77
, pp. 1288-1291
-
-
Dewailly, D.1
Boucher, A.2
Decanter, C.3
Lagarde, J.P.4
Counis, R.5
Kottler, M.L.6
-
40
-
-
0033694510
-
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: Chronic estrogen administration amplifies the gonadotropin defect
-
Kottler ML, Chauvin S, Lahlou N, Harris CE, Johnston CJ, Lagarde JP, Bouchard P, Farid NR & Counis R. A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. Journal of Clinical Endocrinology and Metabolism 2000 85 3002-3008.
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, pp. 3002-3008
-
-
Kottler, M.L.1
Chauvin, S.2
Lahlou, N.3
Harris, C.E.4
Johnston, C.J.5
Lagarde, J.P.6
Bouchard, P.7
Farid, N.R.8
Counis, R.9
-
41
-
-
0036739968
-
Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism
-
Pitteloud N, Hayes FJ, Dwyer AA, Boepple P, Lee H & Crowley WF Jr. Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism. Journal of Clinical Endocrinology Metabolism 2002 87 4128-4136.
-
(2002)
Journal of Clinical Endocrinology Metabolism
, vol.87
, pp. 4128-4136
-
-
Pitteloud, N.1
Hayes, F.J.2
Dwyer, A.A.3
Boepple, P.4
Lee, H.5
Crowley Jr., W.F.6
|