-
1
-
-
0029118115
-
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
-
K. Aittomaki, J.L. Lucena, P. Pakarinen, P. Sistonen, J. Tapanainen, J. Gromoll, R. Kaskikari, E.M. Sankila, H. Lehvaslaiho, A.R. Engel, E. Nieschlag, I. Huhtaniemi, and A. de la Chapelle Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure Cell 82 1995 959 968
-
(1995)
Cell
, vol.82
, pp. 959-968
-
-
Aittomaki, K.1
Lucena, J.L.2
Pakarinen, P.3
Sistonen, P.4
Tapanainen, 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
-
2
-
-
0037323640
-
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: Clinical and molecular characteristics
-
L.A. Allen, J.C. Achermann, P. Pakarinen, T.J. Kotlar, I.T. Huhtaniemi, J.L. Jameson, T.D. Cheetham, and S.G. Ball A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics Hum. Reprod. 18 2003 251 256
-
(2003)
Hum. Reprod.
, vol.18
, pp. 251-256
-
-
Allen, L.A.1
Achermann, J.C.2
Pakarinen, P.3
Kotlar, T.J.4
Huhtaniemi, I.T.5
Jameson, J.L.6
Cheetham, T.D.7
Ball, S.G.8
-
3
-
-
0032190476
-
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor
-
I. Beau, P. Touraine, G. Meduri, A. Gougeon, A. Desroches, C. Matuchansky, E. Milgrom, F. Kuttenn, and M. Misrahi A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor J. Clin. Invest. 102 1998 1352 1359
-
(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
Misrahi, M.9
-
4
-
-
34547100092
-
SNAP: Predict effect of non-synonymous polymorphisms on function
-
Y. Bromberg, and B. Rost SNAP: predict effect of non-synonymous polymorphisms on function Nucleic Acids Res. 35 2007 3823 3835
-
(2007)
Nucleic Acids Res.
, vol.35
, pp. 3823-3835
-
-
Bromberg, Y.1
Rost, B.2
-
5
-
-
0032800694
-
Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome
-
G.S. Conway, E. Conway, C. Walker, W. Hoppner, J. Gromoll, and M. Simoni Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome Clin. Endocrinol. (Oxf.) 51 1999 97 99
-
(1999)
Clin. Endocrinol. (Oxf.)
, vol.51
, pp. 97-99
-
-
Conway, G.S.1
Conway, E.2
Walker, C.3
Hoppner, W.4
Gromoll, J.5
Simoni, M.6
-
7
-
-
0031688627
-
No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure
-
M.B. da Fonte Kohek, M.C. Batista, A.J. Russell, K. Vass, L.R. Giacaglia, B.B. Mendonca, and A.C. Latronico No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure Fertil. Steril. 70 1998 565 567
-
(1998)
Fertil. Steril.
, vol.70
, pp. 565-567
-
-
Da Fonte Kohek, M.B.1
Batista, M.C.2
Russell, A.J.3
Vass, K.4
Giacaglia, L.R.5
Mendonca, B.B.6
Latronico, A.C.7
-
8
-
-
0036964948
-
A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure
-
E. Doherty, P. Pakarinen, A. Tiitinen, A. Kiilavuori, I. Huhtaniemi, S. Forrest, and K. Aittomaki A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure J. Clin. Endocrinol. Metab. 87 2002 1151 1155
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 1151-1155
-
-
Doherty, E.1
Pakarinen, P.2
Tiitinen, A.3
Kiilavuori, A.4
Huhtaniemi, I.5
Forrest, S.6
Aittomaki, K.7
-
9
-
-
25144459981
-
Genetic complexity of FSH receptor function
-
J. Gromoll, and M. Simoni Genetic complexity of FSH receptor function Trends Endocrinol. Metab. 16 2005 368 373
-
(2005)
Trends Endocrinol. Metab.
, vol.16
, pp. 368-373
-
-
Gromoll, J.1
Simoni, M.2
-
10
-
-
77952877994
-
Frequency distribution of polymorphisms in the FSH receptor gene in infertility patients of different ethnicity
-
E.A.M. Kuijper, M.A. Blankenstein, L.J. Luttikhof, S.J.M. Roek, A. Overbeek, P.G. Hompes, J.W.R. Twisk, and C.B. Lambalk Frequency distribution of polymorphisms in the FSH receptor gene in infertility patients of different ethnicity Reprod. BioMed. Online 20 2010 588 593
-
(2010)
Reprod. BioMed. Online
, vol.20
, pp. 588-593
-
-
Kuijper, E.A.M.1
Blankenstein, M.A.2
Luttikhof, L.J.3
Roek, S.J.M.4
Overbeek, A.5
Hompes, P.G.6
Twisk, J.W.R.7
Lambalk, C.B.8
-
11
-
-
33646365380
-
A beta-arrestin binding determinant common to the second intracellular loops of rhodopsin family G protein-coupled receptors
-
S. Marion, R.H. Oakley, K.-M. Kim, M.G. Caron, and L.S. Barak A beta-arrestin binding determinant common to the second intracellular loops of rhodopsin family G protein-coupled receptors J. Biol. Chem. 281 2006 2932 2938
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 2932-2938
-
-
Marion, S.1
Oakley, R.H.2
Kim, K.-M.3
Caron, M.G.4
Barak, L.S.5
-
12
-
-
0042384795
-
Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: Clinical, histological, and molecular studies
-
G. Meduri, P. Touraine, I. Beau, O. Lahuna, A. Desroches, M.C. Vacher-Lavenu, F. Kuttenn, and M. Misrahi Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies J. Clin. Endocrinol. Metab. 88 2003 3491 3498
-
(2003)
J. Clin. Endocrinol. Metab.
, vol.88
, pp. 3491-3498
-
-
Meduri, G.1
Touraine, P.2
Beau, I.3
Lahuna, O.4
Desroches, A.5
Vacher-Lavenu, M.C.6
Kuttenn, F.7
Misrahi, M.8
-
13
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
P.C. Ng, and S. Henikoff Predicting deleterious amino acid substitutions Genome Res. 11 2001 863 874
-
(2001)
Genome Res.
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
14
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
V. Ramensky, P. Bork, and S. Sunyaev Human non-synonymous SNPs: server and survey Nucleic Acids Res. 30 2002 3894 3900
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
15
-
-
0034534985
-
Inhibin: A candidate gene for premature ovarian failure
-
A.N. Shelling, K.A. Burton, A.L. Chand, C.C. van Ee, J.T. France, C.M. Farquhar, S.R. Milsom, D.R. Love, K. Gersak, K. Aittomaki, and I.M. Winship Inhibin: a candidate gene for premature ovarian failure Hum. Reprod. 15 2000 2644 2649
-
(2000)
Hum. Reprod.
, vol.15
, pp. 2644-2649
-
-
Shelling, A.N.1
Burton, K.A.2
Chand, A.L.3
Van Ee, C.C.4
France, J.T.5
Farquhar, C.M.6
Milsom, S.R.7
Love, D.R.8
Gersak, K.9
Aittomaki, K.10
Winship, I.M.11
-
16
-
-
3142566481
-
Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)
-
V. Sundblad, V.A. Chiauzzi, M.E. Escobar, L. Dain, and E.H. Charreau Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF) Mol. Cell. Endocrinol. 222 2004 53 59
-
(2004)
Mol. Cell. Endocrinol.
, vol.222
, pp. 53-59
-
-
Sundblad, V.1
Chiauzzi, V.A.2
Escobar, M.E.3
Dain, L.4
Charreau, E.H.5
-
17
-
-
0037187331
-
Structural determinants in the second intracellular loop of the human follicle-stimulating hormone receptor are involved in Gs protein activation
-
C. Timossi, D. Maldonado, A. Vizcaíno, B. Lindau-Shepard, P.M. Conn, and A. Ulloa-Aguirre Structural determinants in the second intracellular loop of the human follicle-stimulating hormone receptor are involved in Gs protein activation Mol. Cell. Endocrinol. 189 2002 157 168
-
(2002)
Mol. Cell. Endocrinol.
, vol.189
, pp. 157-168
-
-
Timossi, C.1
Maldonado, D.2
Vizcaíno, A.3
Lindau-Shepard, B.4
Conn, P.M.5
Ulloa-Aguirre, A.6
-
18
-
-
0010965530
-
Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome
-
Y. Tong, W.X. Liao, A.C. Roy, and S.C. Ng Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome Horm. Metab. Res. 33 2001 221 226
-
(2001)
Horm. Metab. Res.
, vol.33
, pp. 221-226
-
-
Tong, Y.1
Liao, W.X.2
Roy, A.C.3
Ng, S.C.4
-
19
-
-
0033305435
-
New natural inactivating mutations of the follicle-stimulating hormone receptor: Correlations between receptor function and phenotype
-
P. Touraine, I. Beau, A. Gougeon, G. Meduri, A. Desroches, C. Pichard, M. Detoeuf, B. Paniel, M. Prieur, J.R. Zorn, E. Milgrom, F. Kuttenn, and M. Misrahi New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype Mol. Endocrinol. 13 1999 1844 1854
-
(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
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