-
1
-
-
0032753030
-
The molecular basis of human hypogonadotropic hypogonadism
-
Layman LC. The molecular basis of human hypogonadotropic hypogonadism. Mol Genet Metab 1999;68:191-9.
-
(1999)
Mol Genet Metab
, vol.68
, pp. 191-199
-
-
Layman, L.C.1
-
2
-
-
0033616206
-
The genetics of human hypogonadotropic hypogonadism
-
Layman LC. The genetics of human hypogonadotropic hypogonadism. Am J Med Genet 1999;89:240-8.
-
(1999)
Am J Med Genet
, vol.89
, pp. 240-248
-
-
Layman, L.C.1
-
3
-
-
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;353:529-36.
-
(1991)
Nature
, vol.353
, pp. 529-536
-
-
Franco, B.1
Guioli, S.2
Pragliola, A.3
-
4
-
-
0025940669
-
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
-
Legouis R, Hardelin J, Levilliers J, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991;67:423-35.
-
(1991)
Cell
, vol.67
, pp. 423-435
-
-
Legouis, R.1
Hardelin, J.2
Levilliers, J.3
-
5
-
-
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;326:1752-5.
-
(1992)
N Engl J Med
, vol.326
, pp. 1752-1755
-
-
Bick, D.1
Franco, B.2
Sherins, R.S.3
-
6
-
-
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;2:373-7.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 373-377
-
-
Hardelin, J.P.1
Levilliers, J.2
Blanchard, S.3
-
7
-
-
0027278607
-
Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting
-
Rugarli EI, Lutz B, Kuratani SC, et al. Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet 1993;4:19-26.
-
(1993)
Nat Genet
, vol.4
, pp. 19-26
-
-
Rugarli, E.I.1
Lutz, B.2
Kuratani, S.C.3
-
8
-
-
0027438920
-
Kallmann syndrome from genetics to neurobiology
-
Rugarli E, Ballabio A. Kallmann syndrome from genetics to neurobiology. JAMA 1993;270:2713-6.
-
(1993)
JAMA
, vol.270
, pp. 2713-2716
-
-
Rugarli, E.1
Ballabio, A.2
-
9
-
-
0029069331
-
KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development
-
Duke VM, Winyard PJ, Thorogood P, Soothill P, Bouloux PM, Woolf AS. KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development. Mol Cell Endocrinol 1995;110:73-9.
-
(1995)
Mol Cell Endocrinol
, vol.110
, pp. 73-79
-
-
Duke, V.M.1
Winyard, P.J.2
Thorogood, P.3
Soothill, P.4
Bouloux, P.M.5
Woolf, A.S.6
-
10
-
-
0028137132
-
Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo
-
Lutz B, Karatani S, Rugarli EI, et al. Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo. Hum Mol Genet 1994;3:1717-23.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1717-1723
-
-
Lutz, B.1
Karatani, S.2
Rugarli, E.I.3
-
11
-
-
17744373868
-
The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics
-
Oliveira LM, Seminara SB, Beranova M, et al. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab 2001;86:1532-8.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 1532-1538
-
-
Oliveira, L.M.1
Seminara, S.B.2
Beranova, M.3
-
12
-
-
0028598360
-
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
-
Muscatelli F, Strom TM, Walker AP, et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994;372:672-6.
-
(1994)
Nature
, vol.372
, pp. 672-676
-
-
Muscatelli, F.1
Strom, T.M.2
Walker, A.P.3
-
13
-
-
0028558750
-
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
-
Zanaria E, Muscatelli F, Bardoni B, et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994;372:635-41.
-
(1994)
Nature
, vol.372
, pp. 635-641
-
-
Zanaria, E.1
Muscatelli, F.2
Bardoni, B.3
-
14
-
-
17344363194
-
DAX1 mutations provide insight into structure-function relationships in steroidogenic tissue development
-
Zhang Y-H, Guo W, Wagner RL, et al. DAX1 mutations provide insight into structure-function relationships in steroidogenic tissue development. Am J Hum Genet 1998;62:855-64.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 855-864
-
-
Zhang, Y.-H.1
Guo, W.2
Wagner, R.L.3
-
15
-
-
0003044637
-
Disorders of glycerol metabolism
-
Scriver C, Beaudet A, Sly W, Valle D, editors. New York: McGraw-Hill
-
McCabe E. Disorders of glycerol metabolism. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The metabolic and molecular basis of inherited disease. 7th edition. New York: McGraw-Hill; 1995. p. 1631-52.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease. 7th Edition
, pp. 1631-1652
-
-
McCabe, E.1
-
16
-
-
0029809471
-
Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: Evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production
-
Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr, Jameson JL. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production. J Clin Invest 1996;98:1055-62.
-
(1996)
J Clin Invest
, vol.98
, pp. 1055-1062
-
-
Habiby, R.L.1
Boepple, P.2
Nachtigall, L.3
Sluss, P.M.4
Crowley W.F., Jr.5
Jameson, J.L.6
-
17
-
-
0029145658
-
Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene
-
Guo W, Mason JS, Stone CG, et al. Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene. JAMA 1995;274:324-30.
-
(1995)
JAMA
, vol.274
, pp. 324-330
-
-
Guo, W.1
Mason, J.S.2
Stone, C.G.3
-
18
-
-
0033305636
-
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay
-
Achermann JC, Gu W-X, Kotlar TJ, et al. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab 1999;84: 4497-500.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4497-4500
-
-
Achermann, J.C.1
Gu, W.-X.2
Kotlar, T.J.3
-
19
-
-
0031796372
-
Role of Ahch in gonadal development and gametogenesis
-
Yu RN, Ito M, Saunders TL, Camper SA, Jameson JL. Role of Ahch in gonadal development and gametogenesis. Nat Genet 1998;20:353-7.
-
(1998)
Nat Genet
, vol.20
, pp. 353-357
-
-
Yu, R.N.1
Ito, M.2
Saunders, T.L.3
Camper, S.A.4
Jameson, J.L.5
-
20
-
-
0030878110
-
Congenital leptin deficiency is associated with severe early-onset obesity in humans
-
Montague CT, Farooqi S, Whitehead FP, et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997;387:903-8.
-
(1997)
Nature
, vol.387
, pp. 903-908
-
-
Montague, C.T.1
Farooqi, S.2
Whitehead, F.P.3
-
21
-
-
0032014836
-
A leptin missense mutation associated with hypogonadism and morbid obesity
-
Strobel A, Issad T, Camoin L, Ozata M, Strosberg AD. A leptin missense mutation associated with hypogonadism and morbid obesity. Nat Genet 1998;18:213-5.
-
(1998)
Nat Genet
, vol.18
, pp. 213-215
-
-
Strobel, A.1
Issad, T.2
Camoin, L.3
Ozata, M.4
Strosberg, A.D.5
-
22
-
-
0344450708
-
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
-
Clement K, Vaisse C, Lahlou N, et al. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature 1998;392:398-401.
-
(1998)
Nature
, vol.392
, pp. 398-401
-
-
Clement, K.1
Vaisse, C.2
Lahlou, N.3
-
23
-
-
0024339962
-
Normal structure of the I gonadotropin-releasing hormone (GnRH) gene in patients with GnRH deficiency and idiopathic hypogonadotropic hypogonadism
-
Weiss J, Crowley WF Jr, Jameson JL. Normal structure of the I gonadotropin-releasing hormone (GnRH) gene in patients with GnRH deficiency and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 1989;69:299-303.
-
(1989)
J Clin Endocrinol Metab
, vol.69
, pp. 299-303
-
-
Weiss, J.1
Crowley W.F., Jr.2
Jameson, J.L.3
-
24
-
-
0026052588
-
Normal sequence of the gonadotropin-releasing hormone gene in patients with idiopathic hypgonadotropic hypogonadism
-
Weiss J, Adams E, Whitcomb RW, Crowley WF Jr, Jameson JL. Normal sequence of the gonadotropin-releasing hormone gene in patients with idiopathic hypgonadotropic hypogonadism. Biol Reprod 1991;45:743-7.
-
(1991)
Biol Reprod
, vol.45
, pp. 743-747
-
-
Weiss, J.1
Adams, E.2
Whitcomb, R.W.3
Crowley W.F., Jr.4
Jameson, J.L.5
-
25
-
-
0026558903
-
Gonadotropin-releasing hormone, follicle-stimulating hormone beta, and luteinizing hormone beta gene structure in idiopathic hypogonadotropic hypogonadism
-
Layman LC, Wilson JT, Huey LO, Lanclos KD, Plouffe L Jr, McDonough PG. Gonadotropin-releasing hormone, follicle-stimulating hormone beta, and luteinizing hormone beta gene structure in idiopathic hypogonadotropic hypogonadism. Fertil Steril 1992;57:42-9.
-
(1992)
Fertil Steril
, vol.57
, pp. 42-49
-
-
Layman, L.C.1
Wilson, J.T.2
Huey, L.O.3
Lanclos, K.D.4
Plouffe L., Jr.5
McDonough, P.G.6
-
26
-
-
0027437728
-
Patients with idiopathic hypogonadotropic hypogonadism have normal gonadotropin-releasing hormone gene structure
-
Layman LC, Lanclos KD, Tho SPT, Sweet CR, McDonough PG. Patients with idiopathic hypogonadotropic hypogonadism have normal gonadotropin-releasing hormone gene structure. Adolesc Pediatr Gynecol 1993;6:214-9.
-
(1993)
Adolesc Pediatr Gynecol
, vol.6
, pp. 214-219
-
-
Layman, L.C.1
Lanclos, K.D.2
Tho, S.P.T.3
Sweet, C.R.4
McDonough, P.G.5
-
27
-
-
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: 1597-602.
-
(1997)
N Engl J Med
, vol.337
, pp. 1597-1602
-
-
De Roux, N.1
Young, J.2
Misrahi, M.3
-
28
-
-
17144439793
-
Mutations in the gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
-
Layman LC, Cohen DP, Jin M, et al. Mutations in the gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nat Genet 1998;18:14-5.
-
(1998)
Nat Genet
, vol.18
, pp. 14-15
-
-
Layman, L.C.1
Cohen, D.P.2
Jin, M.3
-
29
-
-
0033017005
-
The same molecular defects of the gonadotropin-releasing hormone determine a variable degree of hypogonadism in affected kindred
-
de Roux N, Young J, Brailly-Tabard S, Misrahi M, Milgrom E, Chaison G. The same molecular defects of the gonadotropin-releasing hormone determine a variable degree of hypogonadism in affected kindred. J Clin Endocrinol Metab 1999;84:567-72.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 567-572
-
-
De Roux, N.1
Young, J.2
Brailly-Tabard, S.3
Misrahi, M.4
Milgrom, E.5
Chaison, G.6
-
30
-
-
0033064884
-
Resistance of hypogonadotropic patients with mutated GnRH receptor genes to pulsatile GnRH administration
-
Caron P, Chauvin S, Christin-Maitre S, et al. Resistance of hypogonadotropic patients with mutated GnRH receptor genes to pulsatile GnRH administration. J Clin Endocrinol Metab 1999;84:990-6.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 990-996
-
-
Caron, P.1
Chauvin, S.2
Christin-Maitre, S.3
-
31
-
-
17744378347
-
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism
-
Beranova M, Oliveira LM, Bedecarrats GY, et al. Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2001;86:1580-8.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 1580-1588
-
-
Beranova, M.1
Oliveira, L.M.2
Bedecarrats, G.Y.3
-
32
-
-
0033180427
-
Molecular analysis of the gonadotropin releasing hormone receptor in polycystic ovarian syndrome
-
Cohen DP, Stein EM, Li Z, Matulis CK, Ehrmann DA, Layman LC. Molecular analysis of the gonadotropin releasing hormone receptor in polycystic ovarian syndrome. Fertil Steril 1999;72:360-3.
-
(1999)
Fertil Steril
, vol.72
, pp. 360-363
-
-
Cohen, D.P.1
Stein, E.M.2
Li, Z.3
Matulis, C.K.4
Ehrmann, D.A.5
Layman, L.C.6
-
33
-
-
0031054284
-
Follicle-stimulating hormone is required for ovarian follicle maturation but not male fertility
-
Kumar TR, Wang Y, Lu N, Matzuk MM. Follicle-stimulating hormone is required for ovarian follicle maturation but not male fertility. Nat Genet 1997;15:201-4.
-
(1997)
Nat Genet
, vol.15
, pp. 201-204
-
-
Kumar, T.R.1
Wang, Y.2
Lu, N.3
Matzuk, M.M.4
-
34
-
-
0027324274
-
Primary amenorrhea and infertility due to a mutation in the β-subunit of follicle-stimulating hormone
-
Matthews CH, Borgato S, Beck-Peccoz P, et al. Primary amenorrhea and infertility due to a mutation in the β-subunit of follicle-stimulating hormone. Nat Genet 1993;5:83-6.
-
(1993)
Nat Genet
, vol.5
, pp. 83-86
-
-
Matthews, C.H.1
Borgato, S.2
Beck-Peccoz, P.3
-
35
-
-
0030744037
-
Delayed puberty and hypogonadism caused by a mutation in the follicle stimulating hormone β-subunit gene
-
Layman LC, Lee EJ, Peak DB, et al. Delayed puberty and hypogonadism caused by a mutation in the follicle stimulating hormone β-subunit gene. N Engl J Med 1997;337: 607-11.
-
(1997)
N Engl J Med
, vol.337
, pp. 607-611
-
-
Layman, L.C.1
Lee, E.J.2
Peak, D.B.3
-
36
-
-
0030816712
-
Isolated deficiency of follicle-stimulating hormone re-revisited
-
Matthews C, Chatterjee VK. Isolated deficiency of follicle-stimulating hormone re-revisited. N Engl J Med 1997;337:642.
-
(1997)
N Engl J Med
, vol.337
, pp. 642
-
-
Matthews, C.1
Chatterjee, V.K.2
-
37
-
-
0036345561
-
FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia
-
Layman LC, Porto AL, Xie J, et al. FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. J Clin Endocrinol Metab 2002;87:3702-7.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 3702-3707
-
-
Layman, L.C.1
Porto, A.L.2
Xie, J.3
-
38
-
-
0031712880
-
Follitropin (FSH) deficiency in an infertile male due to FSH beta gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations
-
Lindstedt G, Nystrom E, Matthews C, Ernest I, Janson PO, Chatterjee K. Follitropin (FSH) deficiency in an infertile male due to FSH beta gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations. Clin Chem Lab Med 1998;36:663-5.
-
(1998)
Clin Chem Lab Med
, vol.36
, pp. 663-665
-
-
Lindstedt, G.1
Nystrom, E.2
Matthews, C.3
Ernest, I.4
Janson, P.O.5
Chatterjee, K.6
-
39
-
-
0032508059
-
Male hypogonadism due to a mutation in the gene for the b-subunit of follicle stimulating hormone
-
Phillip M, Arbelle JE, Segev Y, Parvari R. Male hypogonadism due to a mutation in the gene for the b-subunit of follicle stimulating hormone. N Engl J Med 1998;338:1729-32.
-
(1998)
N Engl J Med
, vol.338
, pp. 1729-1732
-
-
Phillip, M.1
Arbelle, J.E.2
Segev, Y.3
Parvari, R.4
-
40
-
-
0026335545
-
Hypogonadism caused by a single amino acid substitution in the β subunit of luteinizing hormone
-
Weiss J, Axelrod L, Whitcomb RW, Harris PE, Crowley WF Jr, Jameson JL. Hypogonadism caused by a single amino acid substitution in the β subunit of luteinizing hormone. N Engl J Med 1992;326:179-83.
-
(1992)
N Engl J Med
, vol.326
, pp. 179-183
-
-
Weiss, J.1
Axelrod, L.2
Whitcomb, R.W.3
Harris, P.E.4
Crowley W.F., Jr.5
Jameson, J.L.6
-
41
-
-
17344371881
-
Mutations in PROP1 cause familial combined pituitary hormone deficiency
-
Wu W, Cogan JD, Pfaffle RW, et al. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 1998;18:147-9.
-
(1998)
Nat Genet
, vol.18
, pp. 147-149
-
-
Wu, W.1
Cogan, J.D.2
Pfaffle, R.W.3
-
42
-
-
7844241236
-
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
-
Cogan JD, Wu W, Phillips JA III, et al. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. J Clin Endocrinol Metab 1998;83:3346-9.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3346-3349
-
-
Cogan, J.D.1
Wu, W.2
Phillips J.A. III3
-
43
-
-
0032034425
-
A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency
-
Fofanova OV, Takamura N, Kinoshita E, et al. A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. Pituitary 1998;1:45-9.
-
(1998)
Pituitary
, vol.1
, pp. 45-49
-
-
Fofanova, O.V.1
Takamura, N.2
Kinoshita, E.3
-
44
-
-
17344362762
-
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
-
Dattani MT, Martinez-Barbera J-P, Thomas PQ, et al. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 1998;19:125-33.
-
(1998)
Nat Genet
, vol.19
, pp. 125-133
-
-
Dattani, M.T.1
Martinez-Barbera, J.-P.2
Thomas, P.Q.3
-
45
-
-
0035165103
-
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
-
Thomas PQ, Dattani MT, Brickman JM, et al. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet 2001;10:39-45.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 39-45
-
-
Thomas, P.Q.1
Dattani, M.T.2
Brickman, J.M.3
-
47
-
-
0008668334
-
The diagnosis and treatment of pubertal disorders
-
Layman LC, Reindollar RH. The diagnosis and treatment of pubertal disorders. Adolesc Med 1994;5:37-55.
-
(1994)
Adolesc Med
, vol.5
, pp. 37-55
-
-
Layman, L.C.1
Reindollar, R.H.2
-
48
-
-
0001912649
-
Familial ovarian failure
-
Lobo RL, editor. New York: Springer Verlag. [chapter 6]
-
Layman L. Familial ovarian failure. In: Lobo RL, editor. Perimenopause. New York: Springer Verlag; 1997. p. 46-77 [chapter 6].
-
(1997)
Perimenopause
, pp. 46-77
-
-
Layman, L.1
-
49
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
-
Rao E, Weiss B, Fukami M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54-63.
-
(1997)
Nat Genet
, vol.16
, pp. 54-63
-
-
Rao, E.1
Weiss, B.2
Fukami, M.3
-
50
-
-
17344363774
-
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
-
Belin V, Cusin V, Viot G, et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 1998;19:67-9.
-
(1998)
Nat Genet
, vol.19
, pp. 67-69
-
-
Belin, V.1
Cusin, V.2
Viot, G.3
-
51
-
-
0031747158
-
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
-
Shears DJ, Vassal HJ, Goodman FR, et al. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 1998;19:70-3.
-
(1998)
Nat Genet
, vol.19
, pp. 70-73
-
-
Shears, D.J.1
Vassal, H.J.2
Goodman, F.R.3
-
52
-
-
0033616191
-
Ovarian differentiation and gonadal failure
-
Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet 1999;89:186-200.
-
(1999)
Am J Med Genet
, vol.89
, pp. 186-200
-
-
Simpson, J.L.1
Rajkovic, A.2
-
53
-
-
17344369363
-
A human homologue of the Drosophila melanogaster diaphenous gene is disrupted in a patient with premature ovarian failure: Evidence for conserved function in oogenesis and implications for human sterility
-
Bione S, Sala C, Manzini C, et al. A human homologue of the Drosophila melanogaster diaphenous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet 1998;62:533-41.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 533-541
-
-
Bione, S.1
Sala, C.2
Manzini, C.3
-
54
-
-
0034481291
-
Premature ovarian failure and the FMR1 gene
-
Murray A. Premature ovarian failure and the FMR1 gene. Semin Reprod Med 2000;18:59-66.
-
(2000)
Semin Reprod Med
, vol.18
, pp. 59-66
-
-
Murray, A.1
-
55
-
-
0033612244
-
Premature ovarian failure (POF) and fragile X premutation females: From POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data
-
Uzielli ML, Guarducci S, Lapi E, et al. Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data. Am J Med Genet 1999;84:300-3.
-
(1999)
Am J Med Genet
, vol.84
, pp. 300-303
-
-
Uzielli, M.L.1
Guarducci, S.2
Lapi, E.3
-
56
-
-
0025258480
-
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
-
Jager RJ, Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 1990;348:452-4.
-
(1990)
Nature
, vol.348
, pp. 452-454
-
-
Jager, R.J.1
Anvret, M.2
Hall, K.3
Scherer, G.4
-
57
-
-
0034482182
-
Sexual differentiation
-
Ostrer H. Sexual differentiation. Semin Reprod Med 2000;18:41-9.
-
(2000)
Semin Reprod Med
, vol.18
, pp. 41-49
-
-
Ostrer, H.1
-
58
-
-
0035012270
-
Y chromosome microdeletions and alterations of spermatogenesis
-
Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 2001;22:226-39.
-
(2001)
Endocr Rev
, vol.22
, pp. 226-239
-
-
Foresta, C.1
Moro, E.2
Ferlin, A.3
-
59
-
-
0029088061
-
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene
-
Reijo R, Lee T-Y, Salo P, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995;10:383-93.
-
(1995)
Nat Genet
, vol.10
, pp. 383-393
-
-
Reijo, R.1
Lee, T.-Y.2
Salo, P.3
-
60
-
-
0032727618
-
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y
-
Sun C, Skaletsky H, Birren B, et al. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 1999;23:429-32.
-
(1999)
Nat Genet
, vol.23
, pp. 429-432
-
-
Sun, C.1
Skaletsky, H.2
Birren, B.3
-
61
-
-
0034971870
-
Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: Microdeletions are specific for spermatogenic failure
-
Krausz C, Rajpert-de Meyts EW, Frydelund-Larsen L, Quintana-Muro L, McElreavey K, Skakkebaek NE. Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure. J Clin Endocrinol Metab 2001;86:2638-42.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 2638-2642
-
-
Krausz, C.1
Rajpert-de Meyts, E.W.2
Frydelund-Larsen, L.3
Quintana-Muro, L.4
McElreavey, K.5
Skakkebaek, N.E.6
-
62
-
-
0032506018
-
Impairing follicle-stimulating hormone (FSH) signaling in vivo: Targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance
-
Dierich A, Sairam MR, Monaco L, et al. Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance. Proc Natl Acad Sci USA 1998;95:13612-7.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 13612-13617
-
-
Dierich, A.1
Sairam, M.R.2
Monaco, L.3
-
63
-
-
0029118115
-
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic hypogonadism
-
Aittomaki K, Lucena JLD, Pakarinen P, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic hypogonadism. Cell 1995;82:959-68.
-
(1995)
Cell
, vol.82
, pp. 959-968
-
-
Aittomaki, K.1
Lucena, J.L.D.2
Pakarinen, P.3
-
64
-
-
0029838761
-
Clinical features of primary ovarian failure caused by a point mutation in the follicle stimulating hormone receptor gene
-
Aittomaki K, Herva R, Stenman U-H, et al. Clinical features of primary ovarian failure caused by a point mutation in the follicle stimulating hormone receptor gene. J Clin Endocrinol Metab 1996;81:3722-6.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 3722-3726
-
-
Aittomaki, K.1
Herva, R.2
Stenman, U.-H.3
-
65
-
-
0032190476
-
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor
-
Beau I, Touraine P, Meduri G, et al. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest 1998;102:1352-9.
-
(1998)
J Clin Invest
, vol.102
, pp. 1352-1359
-
-
Beau, I.1
Touraine, P.2
Meduri, G.3
-
66
-
-
0033305435
-
New natural inactivating mutations of the follicle-stimulating hormone receptor: Correlations between receptor function and phenotype
-
Touraine P, Beau I, Gougeon A, et al. New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Mol Endocrinol 1999;13:1844-54.
-
(1999)
Mol Endocrinol
, vol.13
, pp. 1844-1854
-
-
Touraine, P.1
Beau, I.2
Gougeon, A.3
-
67
-
-
1842376911
-
Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility
-
Tapanainen JS, Aittomaki K, Min J, Vaskivuo T, Huhtaniemi IT. Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat Genet 1997;15:205-6.
-
(1997)
Nat Genet
, vol.15
, pp. 205-206
-
-
Tapanainen, J.S.1
Aittomaki, K.2
Min, J.3
Vaskivuo, T.4
Huhtaniemi, I.T.5
-
68
-
-
0029913238
-
An activating mutation of the follicle stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man
-
Gromoll J, Simoni M, Nieschlag E. An activating mutation of the follicle stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab 1996;81:1367-70.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1367-1370
-
-
Gromoll, J.1
Simoni, M.2
Nieschlag, E.3
-
69
-
-
0029088815
-
The follicle-stimulating hormone receptor gene is polymorphic in premature ovarian failure and normal controls
-
Whitney EA, Layman LC, Lanclos KD, Wall SW, McDonough PG. The follicle-stimulating hormone receptor gene is polymorphic in premature ovarian failure and normal controls. Fertil Steril 1995;64:518-24.
-
(1995)
Fertil Steril
, vol.64
, pp. 518-524
-
-
Whitney, E.A.1
Layman, L.C.2
Lanclos, K.D.3
Wall, S.W.4
McDonough, P.G.5
-
70
-
-
0032452410
-
566C-T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry
-
566C-T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. J Clin Endocrinol Metab 1998;83:4338-43.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 4338-4343
-
-
Jiang, M.1
Aittomaki, K.2
Nilsson, C.3
-
71
-
-
0033018934
-
Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: Identification and characterization of two discrete FSH receptor isoforms
-
Simoni M, Gromoll J, Hoppner W, et al. Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms. J Clin Endocrinol Metab 1999;84:751-5.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 751-755
-
-
Simoni, M.1
Gromoll, J.2
Hoppner, W.3
-
72
-
-
0028835899
-
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
-
Kremer H, Kraaij R, Toledo SPA, et al. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet 1995;9:160-4.
-
(1995)
Nat Genet
, vol.9
, pp. 160-164
-
-
Kremer, H.1
Kraaij, R.2
Toledo, S.P.A.3
-
73
-
-
0029150958
-
A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty
-
Latronico AC, Anasti J, Arnhold IJP, et al. A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. J Clin Endocrinol Metab 1995;80:2490-4.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 2490-2494
-
-
Latronico, A.C.1
Anasti, J.2
Arnhold, I.J.P.3
-
74
-
-
0029843814
-
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female
-
Toledo SPA, Brunner HG, Kraaij R, et al. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. J Clin Endocrinol Metab 1996;81:3850-4.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 3850-3854
-
-
Toledo, S.P.A.1
Brunner, H.G.2
Kraaij, R.3
-
75
-
-
0027930787
-
Male pseudohermaphroditism caused by mutations of testicular 17-beta-hydroxysteroid dehydrogenase 3
-
Geissler WM, Davis DL, Wu L, et al. Male pseudohermaphroditism caused by mutations of testicular 17-beta-hydroxysteroid dehydrogenase 3. Nat Genet 1994;7:34-9.
-
(1994)
Nat Genet
, vol.7
, pp. 34-39
-
-
Geissler, W.M.1
Davis, D.L.2
Wu, L.3
-
76
-
-
0026055914
-
Deletion of steroid 5-alpha-reductase 2 gene in male pseudohermaphroditism
-
Andersson S, Berman DM, Jenkins EP, Russell DW. Deletion of steroid 5-alpha-reductase 2 gene in male pseudohermaphroditism. Nature 1991;354:159-61.
-
(1991)
Nature
, vol.354
, pp. 159-161
-
-
Andersson, S.1
Berman, D.M.2
Jenkins, E.P.3
Russell, D.W.4
-
77
-
-
0027133452
-
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries
-
Ito Y, Fisher CR, Conte FA, Grumbach MM, Simpson ER. Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc Natl Acad Sci USA 1993;90:11673-7.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 11673-11677
-
-
Ito, Y.1
Fisher, C.R.2
Conte, F.A.3
Grumbach, M.M.4
Simpson, E.R.5
-
78
-
-
0034478062
-
Aromatase deficiency and estrogen resistance: From molecular genetics to clinic
-
Bulun S. Aromatase deficiency and estrogen resistance: from molecular genetics to clinic. Semin Reprod Med 2000;18:31-9.
-
(2000)
Semin Reprod Med
, vol.18
, pp. 31-39
-
-
Bulun, S.1
-
79
-
-
0035720733
-
Sexual function and fertility in adult females and males with congenital adrenal hyperplasia
-
Jaaskelainen J, Tiitinen A, Voutilainen R. Sexual function and fertility in adult females and males with congenital adrenal hyperplasia. Horm Res 2001;56:73-80.
-
(2001)
Horm Res
, vol.56
, pp. 73-80
-
-
Jaaskelainen, J.1
Tiitinen, A.2
Voutilainen, R.3
-
80
-
-
0034913838
-
Long term outcome in adult males with classic congenital adrenal hyperplasia
-
Cabrera MS, Vogiatzi MG, New MI. Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001;86:3070-8.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3070-3078
-
-
Cabrera, M.S.1
Vogiatzi, M.G.2
New, M.I.3
-
81
-
-
0026081588
-
17-Alpha-hydroxylase/17,20-lyase deficiency: From clinical investigation to molecular definition
-
Yanase T, Simpson ER, Waterman MR. 17-Alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev 1991;12:91-108.
-
(1991)
Endocr Rev
, vol.12
, pp. 91-108
-
-
Yanase, T.1
Simpson, E.R.2
Waterman, M.R.3
-
82
-
-
0034892068
-
Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46, XY sex reversal and adrenal insufficiency
-
Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL. Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46, XY sex reversal and adrenal insufficiency. J Clin Endocrinol Metab 2001;86:3820-5.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3820-3825
-
-
Tajima, T.1
Fujieda, K.2
Kouda, N.3
Nakae, J.4
Miller, W.L.5
-
83
-
-
16944367194
-
Positional cloning of the APECED gene
-
Nagamine K, Peterson P, Scott HS, et al. Positional cloning of the APECED gene. Nat Genet 1997;17:393-8.
-
(1997)
Nat Genet
, vol.17
, pp. 393-398
-
-
Nagamine, K.1
Peterson, P.2
Scott, H.S.3
-
84
-
-
0346599403
-
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
-
Consortium F-GA. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 1997;17:399-403.
-
(1997)
Nat Genet
, vol.17
, pp. 399-403
-
-
Consortium, F.-G.A.1
-
85
-
-
0032990419
-
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
-
Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 1999;22:125-6.
-
(1999)
Nat Genet
, vol.22
, pp. 125-126
-
-
Achermann, J.C.1
Ito, M.2
Ito, M.3
Hindmarsh, P.C.4
Jameson, J.L.5
-
86
-
-
0033623571
-
Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency
-
Biason-Lauber A, Schoenle EJ. Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. Am J Hum Genet 2000;67:1563-8.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1563-1568
-
-
Biason-Lauber, A.1
Schoenle, E.J.2
-
87
-
-
0026094584
-
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome
-
Pelletier J, Bruening W, Kashtan CE, et al. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 1991;67:437-47.
-
(1991)
Cell
, vol.67
, pp. 437-447
-
-
Pelletier, J.1
Bruening, W.2
Kashtan, C.E.3
-
88
-
-
16944365351
-
Donor splice-site mutations in WT1 are responsible for Frasier syndrome
-
Barbaux S, Niaudet P, Gubler M-C, et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 1997;17:467-70.
-
(1997)
Nat Genet
, vol.17
, pp. 467-470
-
-
Barbaux, S.1
Niaudet, P.2
Gubler, M.-C.3
-
89
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
Foster JW, Dominguez-Steglich MA, Guioli S, et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994;372:525-30.
-
(1994)
Nature
, vol.372
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, S.3
-
90
-
-
0029811588
-
A 27 base-pair deletion of the antimullerian type II receptor gene is the most common cause of the persistent mullerian duct syndrome
-
Imbeaud S, Belville C, Messika-Zeitoun L, et al. A 27 base-pair deletion of the antimullerian type II receptor gene is the most common cause of the persistent mullerian duct syndrome. Hum Mol Genet 1996;5:1269-77.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1269-1277
-
-
Imbeaud, S.1
Belville, C.2
Messika-Zeitoun, L.3
-
91
-
-
0036479029
-
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry
-
Olbrich H, Haffner K, Kispert A, et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 2002;30:143-4.
-
(2002)
Nat Genet
, vol.30
, pp. 143-144
-
-
Olbrich, H.1
Haffner, K.2
Kispert, A.3
-
92
-
-
0033754159
-
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy
-
Umehara F, Tate G, Itoh K, et al. A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Am J Hum Genet 2000;67:1302-5.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1302-1305
-
-
Umehara, F.1
Tate, G.2
Itoh, K.3
-
93
-
-
0342597380
-
Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome
-
Brown TR, Lubahn DB, Wilson EM, Joseph DR, French FS, Migeon CJ. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. Proc Natl Acad Sci USA 1988;85:8151-5.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 8151-8155
-
-
Brown, T.R.1
Lubahn, D.B.2
Wilson, E.M.3
Joseph, D.R.4
French, F.S.5
Migeon, C.J.6
-
95
-
-
0028794627
-
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients
-
Mercier B, Verlingue C, Lissens W, et al. Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet 1995;56:272-7.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 272-277
-
-
Mercier, B.1
Verlingue, C.2
Lissens, W.3
-
96
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475-80.
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chillon, M.1
Casals, T.2
Mercier, B.3
-
97
-
-
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;33:463-5.
-
(2003)
Nat Genet
, vol.33
, pp. 463-465
-
-
Dode, C.1
Levilliers, J.2
Dupont, J.M.3
|