-
1
-
-
0033120066
-
Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells
-
Adams AE, Rosenblatt M, Suva LJ. Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells. Bone 1999;24:305-313.
-
(1999)
Bone
, vol.24
, pp. 305-313
-
-
Adams, A.E.1
Rosenblatt, M.2
Suva, L.J.3
-
2
-
-
0029118115
-
Mutation in the follicle-stimulating hormone receptor gene cause hereditary hypergonadotropic ovarian failure
-
Aittomaki K, Lucena JL, Pakarinen P, Perheentupa J. Mutation in the follicle-stimulating hormone receptor gene cause hereditary hypergonadotropic ovarian failure. Cell 1995;82:959-968.
-
(1995)
Cell
, vol.82
, pp. 959-968
-
-
Aittomaki, K.1
Lucena, J.L.2
Pakarinen, P.3
Perheentupa, J.4
-
3
-
-
0000672298
-
Investigations cliniques et genetiques sur le syndrome de Bardet-Biedl en Suisse.
-
Ammann F. Investigations cliniques et genetiques sur le syndrome de Bardet-Biedl en Suisse. J Genet Hum 1970;18:1-310.
-
(1970)
J Genet Hum
, vol.18
, pp. 1-310
-
-
Ammann, F.1
-
4
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-265.
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
5
-
-
0033062278
-
New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
-
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999;36:437-446.
-
(1999)
J Med Genet
, vol.36
, pp. 437-446
-
-
Beales, P.L.1
Elcioglu, N.2
Woolf, A.S.3
Parker, D.4
Flinter, F.A.5
-
6
-
-
0037456772
-
-
Burchard EG, Ziv E, Coyle N, Gomez SL, Tang H, Karter AJ, Mountain JL, Perez-Stable EJ, Sheppard D, Risch N. The importance of race and ethnic background in biomedical research and clinical practice. N Engl J Med 2003;348:1170-1175.
-
Burchard EG, Ziv E, Coyle N, Gomez SL, Tang H, Karter AJ, Mountain JL, Perez-Stable EJ, Sheppard D, Risch N. The importance of race and ethnic background in biomedical research and clinical practice. N Engl J Med 2003;348:1170-1175.
-
-
-
-
7
-
-
27644482314
-
Mapping determinants of human gene expression by regional and genome-wide association
-
Cheung VG, Spielman RS, Ewens KG, Weber TM, Morley M, Burdick JT. Mapping determinants of human gene expression by regional and genome-wide association. Nature 2005;437:1365-1369.
-
(2005)
Nature
, vol.437
, pp. 1365-1369
-
-
Cheung, V.G.1
Spielman, R.S.2
Ewens, K.G.3
Weber, T.M.4
Morley, M.5
Burdick, J.T.6
-
8
-
-
0030688004
-
Variations on a theme: Cataloging human DNA sequence variation
-
Collins FS, Guyer MS, Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science 1997;278:1580-1581.
-
(1997)
Science
, vol.278
, pp. 1580-1581
-
-
Collins, F.S.1
Guyer, M.S.2
Charkravarti, A.3
-
9
-
-
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
-
Conway GS, Conway E, Walker C, Hoppner W, Gromoll J, Simoni M. 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) 1999;51:97-99.
-
(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
-
10
-
-
0020359680
-
Premature gonadal failure
-
Coulam CB. Premature gonadal failure. Fertil Steril 1982;38:645-655.
-
(1982)
Fertil Steril
, vol.38
, pp. 645-655
-
-
Coulam, C.B.1
-
12
-
-
0029150074
-
A comparison of linkage disequilibrium measures for fine-scale mapping
-
Devlin B, Risch N. A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 1995;29:311-322.
-
(1995)
Genomics
, vol.29
, pp. 311-322
-
-
Devlin, B.1
Risch, N.2
-
13
-
-
0027505961
-
An update on the roles of inhibin, activin, and follistatin as local regulators of folliculogenesis
-
Findlay JK. An update on the roles of inhibin, activin, and follistatin as local regulators of folliculogenesis. Biol Reprod 1993;48:15- 23.
-
(1993)
Biol Reprod
, vol.48
, pp. 15-23
-
-
Findlay, J.K.1
-
14
-
-
34147110360
-
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis
-
Forti E, Aksanov O, Birk RZ. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. Int J Biochem Cell Biol 2007;39:1055-1062.
-
(2007)
Int J Biochem Cell Biol
, vol.39
, pp. 1055-1062
-
-
Forti, E.1
Aksanov, O.2
Birk, R.Z.3
-
15
-
-
0025200269
-
The right weight: Body fat, menarche and ovulation
-
Frisch RE. The right weight: body fat, menarche and ovulation. Baillieres Clin Obstet Gynaecol 1990;4:419-439.
-
(1990)
Baillieres Clin Obstet Gynaecol
, vol.4
, pp. 419-439
-
-
Frisch, R.E.1
-
16
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M et al. The structure of haplotype blocks in the human genome. Science 2002;296:2225-2229.
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
DeFelice, M.8
Lochner, A.9
Faggart, M.10
-
17
-
-
0028113616
-
Inhibin, activin, follistatin, and transforming growth factor beta (TGFbeta): Presence in the ovary and possible role in the regulation of folliculogenesis in primates
-
Gougeon A. Inhibin, activin, follistatin, and transforming growth factor beta (TGFbeta): presence in the ovary and possible role in the regulation of folliculogenesis in primates. Contracept Fertil Sex 1994;22:571- 576.
-
(1994)
Contracept Fertil Sex
, vol.22
, pp. 571-576
-
-
Gougeon, A.1
-
18
-
-
0024472754
-
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome
-
Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips W. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989;321:1002-1009.
-
(1989)
N Engl J Med
, vol.321
, pp. 1002-1009
-
-
Green, J.S.1
Parfrey, P.S.2
Harnett, J.D.3
Farid, N.R.4
Cramer, B.C.5
Johnson, G.6
Heath, O.7
McManamon, P.J.8
O'Leary, E.9
Pryse-Phillips, W.10
-
19
-
-
0023003363
-
Sex steroid, gonadotropin, cortisol, and prolactin levels in healthy, massively obese women: Correlation with abdominal fat cell size and effect of weight reduction
-
Grenman S, Ronnemaa T, Irjala K, Kaihola HL, Gronroos M. Sex steroid, gonadotropin, cortisol, and prolactin levels in healthy, massively obese women: correlation with abdominal fat cell size and effect of weight reduction. J Clin Endocrinol Metab 1986;63:1257-1261.
-
(1986)
J Clin Endocrinol Metab
, vol.63
, pp. 1257-1261
-
-
Grenman, S.1
Ronnemaa, T.2
Irjala, K.3
Kaihola, H.L.4
Gronroos, M.5
-
20
-
-
2442674039
-
Decoding randomly ordered DNA arrays
-
Gunderson KL, Kruglyak S, Graige MS, Garcia F, Kermani BG, Zhao C, Che D, Dickinson T, Wickham E, Bierle J et al. Decoding randomly ordered DNA arrays. Genome Res 2004;14:870-877.
-
(2004)
Genome Res
, vol.14
, pp. 870-877
-
-
Gunderson, K.L.1
Kruglyak, S.2
Graige, M.S.3
Garcia, F.4
Kermani, B.G.5
Zhao, C.6
Che, D.7
Dickinson, T.8
Wickham, E.9
Bierle, J.10
-
21
-
-
18144425478
-
A genome-wide scalable SNP genotyping assay using microarray technology
-
Gunderson KL, Steemers FJ, Lee G, Mendoza LG, Chee MS. A genome-wide scalable SNP genotyping assay using microarray technology. Nat Genet 2005;37:549-554.
-
(2005)
Nat Genet
, vol.37
, pp. 549-554
-
-
Gunderson, K.L.1
Steemers, F.J.2
Lee, G.3
Mendoza, L.G.4
Chee, M.S.5
-
22
-
-
32144433506
-
INHA promoter polymorphisms are associated with premature ovarian failure
-
Harris SE, Chand AL, Winship IM, Gersak K, Nishi Y, Yanase T, Nawata H, Shelling AN. INHA promoter polymorphisms are associated with premature ovarian failure. Mol Hum Reprod 2005;11:779-784.
-
(2005)
Mol Hum Reprod
, vol.11
, pp. 779-784
-
-
Harris, S.E.1
Chand, A.L.2
Winship, I.M.3
Gersak, K.4
Nishi, Y.5
Yanase, T.6
Nawata, H.7
Shelling, A.N.8
-
23
-
-
13144306071
-
Genome-wide association studies for common diseases and complex traits
-
Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005;6:95-108.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 95-108
-
-
Hirschhorn, J.N.1
Daly, M.J.2
-
24
-
-
0037793279
-
HLA-G allelic variants are associated with differences in the HLA-G mRNA isoform profile and HLA-G mRNA levels
-
Hviid TV, Hylenius S, Rørbye C, Nielsen LG. HLA-G allelic variants are associated with differences in the HLA-G mRNA isoform profile and HLA-G mRNA levels. Immunogenetics 2003;55:63-79.
-
(2003)
Immunogenetics
, vol.55
, pp. 63-79
-
-
Hviid, T.V.1
Hylenius, S.2
Rørbye, C.3
Nielsen, L.G.4
-
25
-
-
3543026858
-
G769A variation of inhibin alpha-gene in korean women with premature ovarian failure
-
Jeong HJ, Cho SW, Kim HA, Lee SH, Cho JG, Choi DH, Kwon H, Cha WT, Han JE, Cha KY. G769A variation of inhibin alpha-gene in korean women with premature ovarian failure. Yonsei Med J 2004;45:479-482.
-
(2004)
Yonsei Med J
, vol.45
, pp. 479-482
-
-
Jeong, H.J.1
Cho, S.W.2
Kim, H.A.3
Lee, S.H.4
Cho, J.G.5
Choi, D.H.6
Kwon, H.7
Cha, W.T.8
Han, J.E.9
Cha, K.Y.10
-
27
-
-
0033039497
-
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
-
Kruglyak L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet 1999;22:139-144.
-
(1999)
Nat Genet
, vol.22
, pp. 139-144
-
-
Kruglyak, L.1
-
28
-
-
0033784708
-
Premature ovarian failure: Etiology and prospects
-
Laml T, Schulz-Lobmeyr I, Obruca A, Huber JC, Hartmann BW. Premature ovarian failure: etiology and prospects. Gynecol Endocrinol 2000;14:292-302.
-
(2000)
Gynecol Endocrinol
, vol.14
, pp. 292-302
-
-
Laml, T.1
Schulz-Lobmeyr, I.2
Obruca, A.3
Huber, J.C.4
Hartmann, B.W.5
-
29
-
-
0030025051
-
Brief report: Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormonereceptor gene
-
Latronico AC, Anasti J, Arnhold IJ, Rapaport R, Mendonca BB, Bloise W, Castro M, Tsigos C, Chrousos GP. Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormonereceptor gene. N Engl J Med 1996;334:507-512.
-
(1996)
N Engl J Med
, vol.334
, pp. 507-512
-
-
Latronico, A.C.1
Anasti, J.2
Arnhold, I.J.3
Rapaport, R.4
Mendonca, B.B.5
Bloise, W.6
Castro, M.7
Tsigos, C.8
Chrousos, G.P.9
-
30
-
-
0027330938
-
Follicle-stimulating hormone beta gene structure in premature ovarian failure
-
Layman LC, Shelley ME, Huey LO, Wall SW, Tho SP, McDonough PG. Follicle-stimulating hormone beta gene structure in premature ovarian failure. Fertil Steril 1993;60:852-857.
-
(1993)
Fertil Steril
, vol.60
, pp. 852-857
-
-
Layman, L.C.1
Shelley, M.E.2
Huey, L.O.3
Wall, S.W.4
Tho, S.P.5
McDonough, P.G.6
-
31
-
-
33847355272
-
Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes
-
Marchand L, Polychronakos C. Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes. Diabetes 2007;56:709-713.
-
(2007)
Diabetes
, vol.56
, pp. 709-713
-
-
Marchand, L.1
Polychronakos, C.2
-
32
-
-
0027324274
-
Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone
-
Matthews CH, Borgato S, Beck-Peccoz P, Adams M, Tone Y, Gambino G, Casagrande S, Tedeschini G, Benedetti A, Chatterjee VK. Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. Nat Genet 1993;5:83-86.
-
(1993)
Nat Genet
, vol.5
, pp. 83-86
-
-
Matthews, C.H.1
Borgato, S.2
Beck-Peccoz, P.3
Adams, M.4
Tone, Y.5
Gambino, G.6
Casagrande, S.7
Tedeschini, G.8
Benedetti, A.9
Chatterjee, V.K.10
-
33
-
-
28144460266
-
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
-
Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM et al. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet 2005;77:1021-1033.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 1021-1033
-
-
Nishimura, D.Y.1
Swiderski, R.E.2
Searby, C.C.3
Berg, E.M.4
Ferguson, A.L.5
Hennekam, R.6
Merin, S.7
Weleber, R.G.8
Biesecker, L.G.9
Stone, E.M.10
-
34
-
-
18144378065
-
Application of the stepwise focusing method to optimize the cost-effectiveness of genome-wide association studies with limited research budgets for genotyping and phenotyping
-
Ohashi J, Clark AG. Application of the stepwise focusing method to optimize the cost-effectiveness of genome-wide association studies with limited research budgets for genotyping and phenotyping. Ann Hum Genet 2005;69:323-328.
-
(2005)
Ann Hum Genet
, vol.69
, pp. 323-328
-
-
Ohashi, J.1
Clark, A.G.2
-
35
-
-
0036596780
-
Premature ovarian failure (POF): Discordance between somatic and reproductive aging
-
Pal L, Santoro N. Premature ovarian failure (POF): discordance between somatic and reproductive aging. Ageing Res Rev 2002;1:413-423.
-
(2002)
Ageing Res Rev
, vol.1
, pp. 413-423
-
-
Pal, L.1
Santoro, N.2
-
36
-
-
0037456729
-
Medicine and the racial divide
-
Phimister EG. Medicine and the racial divide. N Engl J Med 2003;348:1081-1082.
-
(2003)
N Engl J Med
, vol.348
, pp. 1081-1082
-
-
Phimister, E.G.1
-
37
-
-
0035006882
-
Perspective: The ovarian follicle - a perspective in 2001
-
Richards JS. Perspective: the ovarian follicle - a perspective in 2001. Endocrinology 2001;142:2184-2193.
-
(2001)
Endocrinology
, vol.142
, pp. 2184-2193
-
-
Richards, J.S.1
-
38
-
-
0036376131
-
Novel signaling pathways that control ovarian follicular development, ovulation, and luteinization
-
Richards JS, Russell DL, Ochsner S, Hsieh M, Doyle KH, Falender AE, Lo YK, Sharma SC. Novel signaling pathways that control ovarian follicular development, ovulation, and luteinization. Recent Prog Horm Res 2002;57:195-220.
-
(2002)
Recent Prog Horm Res
, vol.57
, pp. 195-220
-
-
Richards, J.S.1
Russell, D.L.2
Ochsner, S.3
Hsieh, M.4
Doyle, K.H.5
Falender, A.E.6
Lo, Y.K.7
Sharma, S.C.8
-
39
-
-
0029741063
-
The future of genetic studies of complex human diseases
-
Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-1517.
-
(1996)
Science
, vol.273
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
-
40
-
-
0034660559
-
Searching for genetic determinants in the new millennium
-
Risch NJ. Searching for genetic determinants in the new millennium. Nature 2000;405:847-856.
-
(2000)
Nature
, vol.405
, pp. 847-856
-
-
Risch, N.J.1
-
41
-
-
0035228040
-
Research on the mechanisms of premature ovarian failure
-
Santoro N. Research on the mechanisms of premature ovarian failure. J Soc Gynecol Investig 2001;8:S10-S12.
-
(2001)
J Soc Gynecol Investig
, vol.8
-
-
Santoro, N.1
-
42
-
-
2942666221
-
Body size and ethnicity are associated with menstrual cycle alterations in women in the early menopausal transition: The Study of Women's Health across the Nation (SWAN) Daily Hormone Study
-
Santoro N, Lasley B, McConnell D, Allsworth J, Crawford S, Gold EB, Finkelstein JS, Greendale GA, Kelsey J, Korenman S et al. Body size and ethnicity are associated with menstrual cycle alterations in women in the early menopausal transition: The Study of Women's Health across the Nation (SWAN) Daily Hormone Study. J Clin Endocrinol Metab 2004;89:2622-2631.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 2622-2631
-
-
Santoro, N.1
Lasley, B.2
McConnell, D.3
Allsworth, J.4
Crawford, S.5
Gold, E.B.6
Finkelstein, J.S.7
Greendale, G.A.8
Kelsey, J.9
Korenman, S.10
-
43
-
-
0042859846
-
Optimal two-stage genotyping in population-based association studies
-
Satagopan JM, Elston RC. Optimal two-stage genotyping in population-based association studies. Genet Epidemiol 2003;25:149-157.
-
(2003)
Genet Epidemiol
, vol.25
, pp. 149-157
-
-
Satagopan, J.M.1
Elston, R.C.2
-
44
-
-
0020057211
-
Bardet-Biedl syndrome and related disorders
-
Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 1982;100:285-288.
-
(1982)
Arch Ophthalmol
, vol.100
, pp. 285-288
-
-
Schachat, A.P.1
Maumenee, I.H.2
-
45
-
-
0031689373
-
Statistics in human genetics
-
Sham PC. Statistics in human genetics. Stat Methods Med Res 1998;7:279-300.
-
(1998)
Stat Methods Med Res
, vol.7
, pp. 279-300
-
-
Sham, P.C.1
-
46
-
-
0016153801
-
Measurement of serum LH, FSH, estradiol and progesterone in disorders of the human menstrual cycle: The inadequate luteal phase
-
Sherman BM, Korenman SG. Measurement of serum LH, FSH, estradiol and progesterone in disorders of the human menstrual cycle: the inadequate luteal phase. J Clin Endocrinol Metab 1974;39:145-149.
-
(1974)
J Clin Endocrinol Metab
, vol.39
, pp. 145-149
-
-
Sherman, B.M.1
Korenman, S.G.2
-
47
-
-
0034722869
-
Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review
-
Slavotinek AM, Biesecker LG. Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review. Am J Med Genet 2000;95:208-215.
-
(2000)
Am J Med Genet
, vol.95
, pp. 208-215
-
-
Slavotinek, A.M.1
Biesecker, L.G.2
-
48
-
-
0035071957
-
A new statistical method for haplotype reconstruction from population data
-
Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001;68:978- 989.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 978-989
-
-
Stephens, M.1
Smith, N.J.2
Donnelly, P.3
-
49
-
-
0032893792
-
Increased prevalence of luteinizing hormone beta-subunit variant in patients with premature ovarian failure
-
Takahashi K, Ozaki T, Okada M, Kurioka H, Kanasaki H, Miyazaki K. Increased prevalence of luteinizing hormone beta-subunit variant in patients with premature ovarian failure. Fertil Steril 1999;71:96-101.
-
(1999)
Fertil Steril
, vol.71
, pp. 96-101
-
-
Takahashi, K.1
Ozaki, T.2
Okada, M.3
Kurioka, H.4
Kanasaki, H.5
Miyazaki, K.6
|