-
7
-
-
0027497051
-
Cosegregation of missense mutations of luteinizing hormone receptor gene with familial male-limited precocious puberty
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1779-1783
-
-
Kremer, H.1
Mariman, E.2
Otten, B.J.3
Moll, G.4
Stoelinga, G.B.5
Wit, J.M.6
Jansen, M.7
Drop, S.L.8
Faas, B.9
Ropers, H.H.10
-
12
-
-
0028835899
-
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
-
(1995)
Nat. Genet.
, vol.9
, pp. 160-164
-
-
Kremer, H.1
Kraaij, R.2
Toledo, S.P.3
Post, M.4
Fridman, J.B.5
Hayashida, C.Y.6
Van Reen, M.7
Milgrom, E.8
Ropers, H.H.9
Mariman, E.Z.10
-
14
-
-
0029118115
-
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
-
(1995)
Cell
, vol.82
, pp. 959-968
-
-
Aittomaki, K.1
Dieguez Lucena, J.L.2
Pakarinen, P.3
Sistonen, P.4
Tapananinen, J.5
Gromoll, J.6
Kaskikari, R.7
Sankila, E.-M.8
Lehvaslaiho, H.9
Engel, A.R.10
Nieschlag, E.11
Huhtaniemi, I.12
De La Chapelle, A.13
-
19
-
-
0030025051
-
Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene
-
(1996)
N. Engl. J. Med.
, vol.334
, pp. 507-512
-
-
Latronico, A.C.1
Anasti, J.2
Arnhold, I.J.P.3
Rapaport, R.4
Mendonca, B.B.5
Bloise, W.6
Castro, M.7
Tsigos, C.8
Chrousos, G.P.9
-
20
-
-
8544274427
-
Comparison of immunohistochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 2159-2165
-
-
Misrahi, M.1
Meduri, G.2
Pissard3
Bouvattier, C.4
Beau, I.5
Loosfelt, H.6
Jolivet, A.7
Rapaport, R.8
Milgrom, E.9
Bougneres, P.10
-
23
-
-
14444287261
-
Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia
-
(1998)
Mol. Endocrinol.
, vol.12
, pp. 1651-1660
-
-
Wu, S.-M.1
Hallermeier, K.M.2
Laue, L.3
Brain, C.4
Berry, A.C.5
Grant, D.B.6
Griffin, J.E.7
Wilson, J.D.8
Cutler, G.C.9
Chan, W.-Y.10
-
27
-
-
0032566138
-
The unique exon 10 of the luteinizing hormone receptor is necessary for expression of the receptor protein at the plasma membrane in the human luteinizing hormone receptor, but deleterious when inserted into the human follicle-stimulating hormone receptor
-
(1998)
Mol. Cell. Endocrinol.
, vol.142
, pp. 165-174
-
-
Zhang, F.P.1
Kero, J.2
Huhtaniemi, I.3
-
36
-
-
0032452410
-
The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry
-
(1998)
J. Clin. Endocrinol. Metab.
, vol.83
, pp. 4338-4343
-
-
Jiang, M.1
Aittomaki, K.2
Nilsson, C.3
Pakarinen, P.4
Iitia, A.5
Torresani, T.6
Simonsen, H.7
Goh, V.8
Petterson, K.9
De La Chapelle, A.10
Huhtaniemi, I.T.11
-
37
-
-
0032190476
-
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 1352-1359
-
-
Beau, I.1
Touraine, P.2
Meduri, G.3
Gougeon, A.4
Desroches, A.5
Matuchansky, C.6
Milgrom, E.7
Kuttenn, F.8
Mishahi, M.9
-
38
-
-
0033305435
-
New natural inactivating mutations of the follicle stimulating hormone receptor: Correlation between receptor function and phenotype
-
(1999)
Mol. Endocrinol.
, vol.13
, pp. 1844-1854
-
-
Touraine, P.1
Beau, I.2
Gougeon, A.3
Meduri, G.4
Desroches, A.5
Pichard, C.6
Detoeuf, M.7
Paniel, B.8
Prieur, M.9
Zorn, J.-R.10
Milgrom, E.11
Kuttenn, F.12
Misrahi, M.13
-
41
-
-
0031670353
-
Screening male intracytoplasmatic sperm injections candidates for mutations of the follicle stimulating hormone receptor gene
-
(1998)
Hum. Reprod.
, vol.13
, pp. 2098-2101
-
-
Tuerlings, J.H.1
Ligtenberg, M.J.2
Kremer, J.A.3
Siers, M.4
Meuleman, E.J.5
Braat, D.D.6
Hoefsloot, L.H.7
Merkus, H.M.8
Brunner, H.G.9
|