-
1
-
-
0019914160
-
Induction of puberty in men by long-term pulsatile administration of low-dose gonadotropin-releasing hormone
-
Hoffman AR, Crowley Jr WF 1982 Induction of puberty in men by long-term pulsatile administration of low-dose gonadotropin-releasing hormone. N Engl J Med 307:1237-1241
-
(1982)
N Engl J Med
, vol.307
, pp. 1237-1241
-
-
Hoffman, A.R.1
Crowley Jr., W.F.2
-
3
-
-
0024554568
-
Origin of luteinizing hormone-releasing hormone neurons
-
Schwanzel-Fukuda M, Pfaff DW 1989 Origin of luteinizing hormone-releasing hormone neurons. Nature 338:161-164
-
(1989)
Nature
, vol.338
, pp. 161-164
-
-
Schwanzel-Fukuda, M.1
Pfaff, D.W.2
-
4
-
-
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 H, Lutfalla G, Weissenbach J, Petit C 1991 The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 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.12
Lutfalla, G.13
Weissenbach, J.14
Petit, C.15
-
5
-
-
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, Graziella Persico M, Camerino G, Ballabio A 1991 A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 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
Graziella Persico, M.14
Camerino, G.15
Ballabio, A.16
-
6
-
-
20244366799
-
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
Dodé C, Levilliers J, Dupont JM, De Paepe A, Le DÛ N, Soussi- Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux 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 H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP 2003 Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 33:463-465
-
(2003)
Nat Genet
, vol.33
, pp. 463-465
-
-
Dodé, C.1
Levilliers, J.2
Dupont, J.M.3
De Paepe, A.4
Le Dû, N.5
Soussi-Yanicostas, N.6
Coimbra, R.S.7
Delmaghani, S.8
Compain-Nouaille, S.9
Baverel, F.10
Pêcheux, 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
De Delemarre-van Waal, H.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..
-
7
-
-
33646567190
-
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
-
Pitteloud N, Acierno Jr JS, Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA, Metzger DL, Hayes FJ, Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E, Mohammadi M, Crowley Jr WF 2006 Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci USA 103:6281-6286
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 6281-6286
-
-
Pitteloud, N.1
Acierno Jr., J.S.2
Meysing, A.3
Eliseenkova, A.V.4
Ma, J.5
Ibrahimi, O.A.6
Metzger, D.L.7
Hayes, F.J.8
Dwyer, A.A.9
Hughes, V.A.10
Yialamas, M.11
Hall, J.E.12
Grant, E.13
Mohammadi, M.14
Crowley Jr., W.F.15
-
8
-
-
48749120107
-
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
-
Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, MaJ, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N 2008 Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest 118:2822-2831
-
(2008)
J Clin Invest
, vol.118
, pp. 2822-2831
-
-
Falardeau, J.1
Chung, W.C.2
Beenken, A.3
Raivio, T.4
Plummer, L.5
Sidis, Y.6
Jacobson-Dickman, E.E.7
Eliseenkova, A.V.8
Ma, J.9
Dwyer, A.10
Quinton, R.11
Na, S.12
Hall, J.E.13
Huot, C.14
Alois, N.15
Pearce, S.H.16
Cole, L.W.17
Hughes, V.18
Mohammadi, M.19
Tsai, P.20
Pitteloud, N.21
more..
-
9
-
-
33750471153
-
Kallmann syndrome: Mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
-
Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP 2006 Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet 2:e175
-
(2006)
PLoS Genet
, vol.2
-
-
Dodé, C.1
Teixeira, L.2
Levilliers, J.3
Fouveaut, C.4
Bouchard, P.5
Kottler, M.L.6
Lespinasse, J.7
Lienhardt-Roussie, A.8
Mathieu, M.9
Moerman, A.10
Morgan, G.11
Murat, A.12
Toublanc, J.E.13
Wolczynski, S.14
Delpech, M.15
Petit, C.16
Young, J.17
Hardelin, J.P.18
-
10
-
-
36849044530
-
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
-
Pitteloud N, Zhang C, Pignatelli D,Li JD, Raivio T, Cole LW, Plummer L, Jacobson-Dickman EE, Mellon PL, Zhou QY, Crowley Jr WF 2007 Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci USA 104:17447-17452
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 17447-17452
-
-
Pitteloud, N.1
Zhang, C.2
Pignatelli, D.3
Li, J.D.4
Raivio, T.5
Cole, L.W.6
Plummer, L.7
Jacobson-Dickman, E.E.8
Mellon, P.L.9
Zhou, Q.Y.10
Crowley Jr., W.F.11
-
11
-
-
51649125515
-
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum
-
Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley Jr WF, Zhou QY, Pitteloud N 2008 Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin- releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab 93:3551-3559
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 3551-3559
-
-
Cole, L.W.1
Sidis, Y.2
Zhang, C.3
Quinton, R.4
Plummer, L.5
Pignatelli, D.6
Hughes, V.A.7
Dwyer, A.A.8
Raivio, T.9
Hayes, F.J.10
Seminara, S.B.11
Huot, C.12
Alos, N.13
Speiser, P.14
Takeshita, A.15
Van Vliet, G.16
Pearce, S.17
Crowley Jr., W.F.18
Zhou, Q.Y.19
Pitteloud, N.20
more..
-
12
-
-
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, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB, Latronico AC 2008 Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J Clin Endocrinol Metab 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
Frade Costa, E.M.4
Versiani, B.5
Matias Baptista, M.T.6
Garmes, H.M.7
Mendonca, B.B.8
Latronico, A.C.9
-
13
-
-
76149143969
-
A comparative phenotypic study of Kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes
-
Sarfati J, Guiochon-Mantel A, Rondard P, Arnulf I, Garcia-Piñero A, Wolczynski S, Brailly-Tabard S, Bidet M, Ramos-Arroyo M, Mathieu M, Lienhardt-Roussie A, Morgan G, Turki Z, Bremont C, Lespinasse J, Du Boullay H, Chabbert-Buffet N, Jacquemont S, Reach G, De Talence N, Tonella P, Conrad B, Despert F, Delobel B, Brue T, Bouvattier C, Cabrol S, Pugeat M, Murat A, Bouchard P, Hardelin JP, Dodé C, Young J 2010 A comparative phenotypic study of Kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J Clin Endocrinol Metab 95:659-669
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 659-669
-
-
Sarfati, J.1
Guiochon-Mantel, A.2
Rondard, P.3
Arnulf, I.4
Garcia-Piñero, A.5
Wolczynski, S.6
Brailly-Tabard, S.7
Bidet, M.8
Ramos-Arroyo, M.9
Mathieu, M.10
Lienhardt-Roussie, A.11
Morgan, G.12
Turki, Z.13
Bremont, C.14
Lespinasse, J.15
Du Boullay, H.16
Chabbert-Buffet, N.17
Jacquemont, S.18
Reach, G.19
De Talence, N.20
Tonella, P.21
Conrad, B.22
Despert, F.23
Delobel, B.24
Brue, T.25
Bouvattier, C.26
Cabrol, S.27
Pugeat, M.28
Murat, A.29
Bouchard, P.30
Hardelin, J.P.31
Dodé, C.32
Young, J.33
more..
-
14
-
-
53249149000
-
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
-
Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet 83:511-519
-
(2008)
Am J Hum Genet
, vol.83
, pp. 511-519
-
-
Kim, H.G.1
Kurth, I.2
Lan, F.3
Meliciani, I.4
Wenzel, W.5
Eom, S.H.6
Kang, G.B.7
Rosenberger, G.8
Tekin, M.9
Ozata, M.10
Bick, D.P.11
Sherins, R.J.12
Walker, S.L.13
Shi, Y.14
Gusella, J.F.15
Layman, L.C.16
-
15
-
-
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 1997 A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N Engl J Med 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
-
16
-
-
17144439793
-
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
-
Layman LC, Cohen DP, Jin M, Xie J, Li Z, Reindollar RH, Bolbolan S, Bick DP, Sherins RR, Duck LW, Musgrove LC, Sellers JC, Neill JD 1998 Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nat Genet 18:14-15
-
(1998)
Nat Genet
, vol.18
, pp. 14-15
-
-
Layman, L.C.1
Cohen, D.P.2
Jin, M.3
Xie, J.4
Li, Z.5
Reindollar, R.H.6
Bolbolan, S.7
Bick, D.P.8
Sherins, R.R.9
Duck, L.W.10
Musgrove, L.C.11
Sellers, J.C.12
Neill, J.D.13
-
17
-
-
0142091653
-
The GPR54 gene as a regulator of puberty
-
Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno Jr JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley Jr WF, Aparicio SA, Colledge WH 2003 The GPR54 gene as a regulator of puberty.NEngl J Med 349:1614-1627
-
(2003)
NEngl J Med
, vol.349
, pp. 1614-1627
-
-
Seminara, S.B.1
Messager, S.2
Chatzidaki, 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.M.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.17
Crowley Jr., W.F.18
Aparicio, S.A.19
Colledge, W.H.20
more..
-
18
-
-
61349091041
-
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction
-
Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK 2009 TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction. Nat Genet 41:354-358
-
(2009)
Nat Genet
, vol.41
, pp. 354-358
-
-
Topaloglu, A.K.1
Reimann, F.2
Guclu, M.3
Yalin, A.S.4
Kotan, L.D.5
Porter, K.M.6
Serin, A.7
Mungan, N.O.8
Cook, J.R.9
Ozbek, M.N.10
Imamoglu, S.11
Akalin, N.S.12
Yuksel, B.13
O'Rahilly, S.14
Semple, R.K.15
-
19
-
-
0141814637
-
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
-
de Roux N, Genin E, Carel JC, Matsuda F, Chaussain JL, Milgrom E 2003 Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc Natl Acad Sci USA 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
Matsuda, F.4
Chaussain, J.L.5
Milgrom, E.6
-
20
-
-
67649390886
-
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation
-
Bouligand J, Ghervan C, Tello JA, Brailly-Tabard S, Salenave S, Chanson P, Lombès M, Millar RP, Guiochon-Mantel A, Young J 2009 Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. N Engl J Med 360:2742-2748
-
(2009)
N Engl J Med
, vol.360
, pp. 2742-2748
-
-
Bouligand, J.1
Ghervan, C.2
Tello, J.A.3
Brailly-Tabard, S.4
Salenave, S.5
Chanson, P.6
Lombès, M.7
Millar, R.P.8
Guiochon-Mantel, A.9
Young, J.10
-
21
-
-
33745948557
-
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes
-
Pitteloud N, Meysing A, Quinton R, Acierno Jr JS, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley Jr WF 2006 Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol 254-255:60-69
-
(2006)
Mol Cell Endocrinol
, vol.254-255
, pp. 60-69
-
-
Pitteloud, N.1
Meysing, A.2
Quinton, R.3
Acierno Jr., J.S.4
Dwyer, A.A.5
Plummer, L.6
Fliers, E.7
Boepple, P.8
Hayes, F.9
Seminara, S.10
Hughes, V.A.11
Ma, J.12
Bouloux, P.13
Mohammadi, M.14
Crowley Jr., W.F.15
-
22
-
-
10144243975
-
The neuroradiology of Kallmann's syndrome: A genotypic and phenotypic analysis
-
Quinton R, Duke VM, de Zoysa PA, Platts AD, Valentine A, Kendall B, Pickman S, Kirk JM, Besser GM, Jacobs HS, Bouloux PM 1996 The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. J Clin Endocrinol Metab 81:3010-3017
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 3010-3017
-
-
Quinton, R.1
Duke, V.M.2
De Zoysa, P.A.3
Platts, A.D.4
Valentine, A.5
Kendall, B.6
Pickman, S.7
Kirk, J.M.8
Besser, G.M.9
Jacobs, H.S.10
Bouloux, P.M.11
-
23
-
-
0034828721
-
Idiopathic gonadotrophin deficiency: Genetic questions addressed through phenotypic characterization
-
Oxf
-
Quinton R, Duke VM, Robertson A, Kirk JM, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS, Besser M, Stanhope RG, Bouloux PM 2001 Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization. Clin Endocrinol (Oxf) 55:163-174
-
(2001)
Clin Endocrinol
, vol.55
, pp. 163-174
-
-
Quinton, R.1
Duke, V.M.2
Robertson, A.3
Kirk, J.M.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.13
-
24
-
-
0028006388
-
Olfactory function in patients with hypogonadotropic hypogonadism: An all-or-none phenomenon?
-
Hudson R, Laska M, Berger T, Heye B, Schopohl J, Danek A 1994 Olfactory function in patients with hypogonadotropic hypogonadism: an all-or-none phenomenon? Chem Senses 19:57-69
-
(1994)
Chem Senses
, vol.19
, pp. 57-69
-
-
Hudson, R.1
Laska, M.2
Berger, T.3
Heye, B.4
Schopohl, J.5
Danek, A.6
-
25
-
-
32944478440
-
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism
-
Bhagavath B, Podolsky RH, Ozata M, Bolu E, Bick DP, Kulharya A, Sherins RJ, Layman LC 2006 Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. Fertil Steril 85:706-713
-
(2006)
Fertil Steril
, vol.85
, pp. 706-713
-
-
Bhagavath, B.1
Podolsky, R.H.2
Ozata, M.3
Bolu, E.4
Bick, D.P.5
Kulharya, A.6
Sherins, R.J.7
Layman, L.C.8
-
26
-
-
0028353887
-
Kallman syndrome versus idiopathic hypogonadotropic hypogonadism atMRimaging
-
Vogl TJ, Stemmler J, Heye B, Schopoh lJ, Danek A, Bergman C, BalzerJO, Felix R 1994 Kallman syndrome versus idiopathic hypogonadotropic hypogonadism atMRimaging. Radiology 191:53-57
-
(1994)
Radiology
, vol.191
, pp. 53-57
-
-
Vogl, T.J.1
Stemmler, J.2
Heye, B.3
Schopoh, I.J.4
Danek, A.5
Bergman, C.6
Balzer, J.O.7
Felix, R.8
-
27
-
-
81355149901
-
Quantitative magnetic resonance imaging evaluation of the olfactory system in Kallmann syndrome: Correlation with a clinical smell test
-
21 May doi: 10.1159/000328437
-
Koenigkam-Santos M, Santos AC, Versiani BR, Diniz PR, Junior JE, de Castro M 21 May 2011 Quantitative magnetic resonance imaging evaluation of the olfactory system in Kallmann syndrome: correlation with a clinical smell test. Neuroendocrinology doi: 10.1159/000328437
-
(2011)
Neuroendocrinology
-
-
Koenigkam-Santos, M.1
Santos, A.C.2
Versiani, B.R.3
Diniz, P.R.4
Junior, J.E.5
De Castro, M.6
-
28
-
-
0038707519
-
X chromosome-linked Kallmann syndrome: Clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene
-
Massin N, Pêcheux C, Eloit C, Bensimon JL, Galey J, Kuttenn F, Hardelin JP, Dodé C, Touraine P 2003 X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. J Clin Endocrinol Metab 88:2003-2008
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 2003-2008
-
-
Massin, N.1
Pêcheux, C.2
Eloit, C.3
Bensimon, J.L.4
Galey, J.5
Kuttenn, F.6
Hardelin, J.P.7
Dodé, C.8
Touraine, P.9
-
29
-
-
0029012955
-
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
-
Parenti G, Rizzolo MG, Ghezzi M, DiMaio S, Sperandeo MP, Incerti B, Franco B, Ballabio A, Andria G 1995 Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. Am J Med Genet 57:476-478
-
(1995)
Am J Med Genet
, vol.57
, pp. 476-478
-
-
Parenti, G.1
Rizzolo, M.G.2
Ghezzi, M.3
DiMaio, S.4
Sperandeo, M.P.5
Incerti, B.6
Franco, B.7
Ballabio, A.8
Andria, G.9
-
30
-
-
0021326210
-
Development of the University of Pennsylvania Smell Identification Test: A standardized microencapsulated test of olfactory function
-
Doty RL, Shaman P, Dann M 1984 Development of the University of Pennsylvania Smell Identification Test: a standardized microencapsulated test of olfactory function. Physiol Behav 32:489-502
-
(1984)
Physiol Behav
, vol.32
, pp. 489-502
-
-
Doty, R.L.1
Shaman, P.2
Dann, M.3
-
32
-
-
0030027472
-
MR evaluation of patients with congenital hyposmia or anosmia
-
Yousem DM, Geckle RJ, Bilker W, McKeown DA, Doty RL 1996 MR evaluation of patients with congenital hyposmia or anosmia. AJR Am J Roentgenol 166:439-443
-
(1996)
AJR Am J Roentgenol
, vol.166
, pp. 439-443
-
-
Yousem, D.M.1
Geckle, R.J.2
Bilker, W.3
McKeown, D.A.4
Doty, R.L.5
-
33
-
-
77957001039
-
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
-
Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak- Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley Jr WF, Pitteloud N 2010 Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci USA 107:15140-15144
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 15140-15144
-
-
Sykiotis, G.P.1
Plummer, L.2
Hughes, V.A.3
Au, M.4
Durrani, S.5
Nayak-Young, S.6
Dwyer, A.A.7
Quinton, R.8
Hall, J.E.9
Gusella, J.F.10
Seminara, S.B.11
Crowley Jr., W.F.12
Pitteloud, N.13
-
34
-
-
67650917931
-
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism
-
Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley Jr WF, Amory JK, Pitteloud N, Seminara SB 2009 GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci USA 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
Plummer, L.4
Cerrato, F.5
Tsiaras, S.6
Gaspert, A.7
Lavoie, H.B.8
Wu, C.H.9
Crowley Jr., W.F.10
Amory, J.K.11
Pitteloud, N.12
Seminara, S.B.13
-
35
-
-
0037564846
-
Autosomal recessive idiopathic hypogonadotropic hypogonadism: Genetic analysis excludes mutations in the gonadotropinreleasing hormone (GnRH) and GnRH receptor genes
-
Bo-Abbas Y, Acierno Jr JS, Shagoury JK, Crowley Jr WF, Seminara SB 2003 Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropinreleasing hormone (GnRH) and GnRH receptor genes. J Clin Endocrinol Metab 88:2730-2737
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 2730-2737
-
-
Bo-Abbas, Y.1
Acierno Jr., J.S.2
Shagoury, J.K.3
Crowley Jr., W.F.4
Seminara, S.B.5
-
36
-
-
77954517193
-
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood
-
Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonça BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB 2010 TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab 95:2857-2867
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 2857-2867
-
-
Gianetti, E.1
Tusset, C.2
Noel, S.D.3
Au, M.G.4
Dwyer, A.A.5
Hughes, V.A.6
Abreu, A.P.7
Carroll, J.8
Trarbach, E.9
Silveira, L.F.10
Costa, E.M.11
De Mendonça, B.B.12
De Castro, M.13
Lofrano, A.14
Hall, J.E.15
Bolu, E.16
Ozata, M.17
Quinton, R.18
Amory, J.K.19
Stewart, S.E.20
Arlt, W.21
Cole, T.R.22
Crowley, W.F.23
Kaiser, U.B.24
Latronico, A.C.25
Seminara, S.B.26
more..
-
37
-
-
79955578504
-
The role of the prokineticin 2 pathway in human reproduction: Evidence from the study of human and murine gene mutations
-
Martin C, Balasubramanian R, Dwyer AA, Au MG, Sidis Y, Kaiser UB, Seminara SB, Pitteloud N, Zhou QY, Crowley Jr WF 2011 The role of the prokineticin2pathwayinhumanreproduction:evidencefromthestudyof human and murine gene mutations. Endocr Rev 32:225-246
-
(2011)
Endocr Rev
, vol.32
, pp. 225-246
-
-
Martin, C.1
Balasubramanian, R.2
Dwyer, A.A.3
Au, M.G.4
Sidis, Y.5
Kaiser, U.B.6
Seminara, S.B.7
Pitteloud, N.8
Zhou, Q.Y.9
Crowley Jr., W.F.10
-
38
-
-
55749108383
-
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
-
Hardelin JP, Dodé C 2008 The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al. Sex Dev 2:181-193
-
(2008)
Sex Dev
, vol.2
, pp. 181-193
-
-
Hardelin, J.P.1
Dodé, C.2
-
39
-
-
0023765129
-
Olfactory dysfunction in Parkinsonism: A general deficit unrelated to neurologic signs, disease stage, or disease duration
-
Doty RL, Deems DA, Stellar S 1988 Olfactory dysfunction in Parkinsonism: a general deficit unrelated to neurologic signs, disease stage, or disease duration. Neurology 38:1237-1244
-
(1988)
Neurology
, vol.38
, pp. 1237-1244
-
-
Doty, R.L.1
Deems, D.A.2
Stellar, S.3
-
40
-
-
0029059128
-
Unawareness of smell loss in normal aging and Alzheimer's disease: Discrepancy between selfreported and diagnosed smell sensitivity
-
Nordin S, Monsch AU, Murphy C 1995 Unawareness of smell loss in normal aging and Alzheimer's disease: discrepancy between selfreported and diagnosed smell sensitivity. J Gerontol B Psychol Sci Soc Sci 50:P187-P192
-
(1995)
J Gerontol B Psychol Sci Soc Sci
, vol.50
-
-
Nordin, S.1
Monsch, A.U.2
Murphy, C.3
|