-
1
-
-
0029095150
-
Polycystic ovary syndrome
-
Franks S. Polycystic ovary syndrome. N Engl J Med. 333:1995;853-861.
-
(1995)
N Engl J Med
, vol.333
, pp. 853-861
-
-
Franks, S.1
-
2
-
-
0026729957
-
Puberty and polycystic ovarian syndrome: The insulin/insulin-like growth factor I hypothesis
-
Nobels F, Dewailly D. Puberty and polycystic ovarian syndrome: The insulin/insulin-like growth factor I hypothesis. Fertil Steril. 58:1992;655-666.
-
(1992)
Fertil Steril
, vol.58
, pp. 655-666
-
-
Nobels, F.1
Dewailly, D.2
-
3
-
-
85047696604
-
Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion
-
Ehrmann D A, Barnes R B, Rosenfield R L. Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion. Endocrin Rev. 16:1995;322-353.
-
(1995)
Endocrin Rev.
, vol.16
, pp. 322-353
-
-
Ehrmann, D.A.1
Barnes, R.B.2
Rosenfield, R.L.3
-
4
-
-
0027166906
-
Postpubertal outcome in girls diagnosed of premature pubarche during childhood: Increased frequency of functional ovarian hyperandrogenism
-
Ibañez L, Potau N, Virdis R, Zampoli M, Terzi C, Gussinyé M, Carrascosa A, Vicens-Calvert E. Postpubertal outcome in girls diagnosed of premature pubarche during childhood: Increased frequency of functional ovarian hyperandrogenism. J Clin Endocrinol Metab. 76:1993;1599-1603.
-
(1993)
J Clin Endocrinol Metab
, vol.76
, pp. 1599-1603
-
-
Ibañez, L.1
Potau, N.2
Virdis, R.3
Zampoli, M.4
Terzi, C.5
Gussinyé, M.6
Carrascosa, A.7
Vicens-Calvert, E.8
-
5
-
-
0015510016
-
Steroid, follicle-stimulating hormone and luteinizing hormone profiles in identical twins with polycystic ovaries
-
McDonough P G, Mahesh V B, Ellegood J O. Steroid, follicle-stimulating hormone and luteinizing hormone profiles in identical twins with polycystic ovaries. Am J Obstet Gynecol. 113:1972;1072-1076.
-
(1972)
Am J Obstet Gynecol
, vol.113
, pp. 1072-1076
-
-
McDonough, P.G.1
Mahesh, V.B.2
Ellegood, J.O.3
-
6
-
-
0024268235
-
Familial polycystic ovaries: A genetic disease?
-
Hague W M, Adams J, Reeders S T, Peto T EA, Jacobs H S. Familial polycystic ovaries: A genetic disease? Clin Endocrinol. 29:1988;593-605.
-
(1988)
Clin Endocrinol
, vol.29
, pp. 593-605
-
-
Hague, W.M.1
Adams, J.2
Reeders, S.T.3
Peto, T.E.A.4
Jacobs, H.S.5
-
7
-
-
0002125301
-
Elucidating the genetics of polycystic ovary syndrome
-
Boston: Blackwell Scientific. p. 59-69
-
Simpson J L. Elucidating the genetics of polycystic ovary syndrome. Polycystic Ovary Syndrome. 1992;Blackwell Scientific, Boston. p. 59-69.
-
(1992)
Polycystic Ovary Syndrome
-
-
Simpson, J.L.1
-
8
-
-
0028959136
-
The genetics of polycystic ovary syndrome
-
Legro R S. The genetics of polycystic ovary syndrome. Am J Med. 98:1995;9S-16S.
-
(1995)
Am J Med
, vol.98
-
-
Legro, R.S.1
-
9
-
-
0018606011
-
The inheritance of polycystic ovary disease and possible relationship to premature balding
-
Ferriman D, Purdie A W. The inheritance of polycystic ovary disease and possible relationship to premature balding. Clin Endocrinol. 1:1979;291-299.
-
(1979)
Clin Endocrinol
, vol.1
, pp. 291-299
-
-
Ferriman, D.1
Purdie, A.W.2
-
11
-
-
0027196489
-
Evidence for a single gene effect causing polycystic ovaries and male pattern baldness
-
Carey A H, Chan K L, Short F, White D, Williamson R, Franks S. Evidence for a single gene effect causing polycystic ovaries and male pattern baldness. Clin Endocrinol. 38:1993;653-659.
-
(1993)
Clin Endocrinol
, vol.38
, pp. 653-659
-
-
Carey, A.H.1
Chan, K.L.2
Short, F.3
White, D.4
Williamson, R.5
Franks, S.6
-
12
-
-
0031049755
-
Association of the steroid synthesis geneCYP11a
-
Gharani N, Waterworth D M, Batty S, White D, Gilling-Smith C, Conway G S, McCarthy M, Franks S, Williamson R. Association of the steroid synthesis geneCYP11a. Hum Molec Genet. 6:1997;397-402.
-
(1997)
Hum Molec Genet
, vol.6
, pp. 397-402
-
-
Gharani, N.1
Waterworth, D.M.2
Batty, S.3
White, D.4
Gilling-Smith, C.5
Conway, G.S.6
McCarthy, M.7
Franks, S.8
Williamson, R.9
-
13
-
-
0030895556
-
Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome
-
Waterworth D M, Bennett S T, Gharani N, McCarthy M I, Hague S, Batty S, Conway G S, White D, Todd J A, Franks S, Williamson R. Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet. 349:1997;986-990.
-
(1997)
Lancet
, vol.349
, pp. 986-990
-
-
Waterworth, D.M.1
Bennett, S.T.2
Gharani, N.3
McCarthy, M.I.4
Hague, S.5
Batty, S.6
Conway, G.S.7
White, D.8
Todd, J.A.9
Franks, S.10
Williamson, R.11
-
14
-
-
16044372273
-
5′ polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries
-
Gharani N, Waterworth D M, Williamson R, Franks S. 5′ polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries. J Clin Endocrinol Metab. 81:1996;4174.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4174
-
-
Gharani, N.1
Waterworth, D.M.2
Williamson, R.3
Franks, S.4
-
15
-
-
0010569644
-
No mutations identified in CYP17 gene in patients with symptoms of hyperandrogenism
-
S, F, Witchel, P, A, Lee, M, Suda-Hartman, E, P, Hoffman, 1997, No mutations identified in CYP17 gene in patients with symptoms of hyperandrogenism. Endocrine Society Annual Meeting.
-
(1997)
Endocrine Society Annual Meeting
-
-
Witchel, S.F.1
Lee, P.A.2
Suda-Hartman, M.3
Hoffman, E.P.4
-
17
-
-
0042901202
-
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
-
Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene. Proc Natl Acad Sci USA. 83:1986;2841-2845.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 2841-2845
-
-
Higashi, Y.1
Yoshioka, H.2
Yamane, M.3
Gotoh, O.4
Fujii-Kuriyama, Y.5
-
18
-
-
0025753960
-
Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency
-
Higashi Y, Hiromasa T, Tanae A, Miki T, Nakura J, Kondo T, Ohura T, Ogawa E, Nakayama K, Fujii-Kuriyama Y. Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency. J Biochem. 109:1991;638-644.
-
(1991)
J Biochem
, vol.109
, pp. 638-644
-
-
Higashi, Y.1
Hiromasa, T.2
Tanae, A.3
Miki, T.4
Nakura, J.5
Kondo, T.6
Ohura, T.7
Ogawa, E.8
Nakayama, K.9
Fujii-Kuriyama, Y.10
-
19
-
-
0025935967
-
Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Morel Y, Miller W L. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet. 20:1991;1-68.
-
(1991)
Adv Hum Genet
, vol.20
, pp. 1-68
-
-
Morel, Y.1
Miller, W.L.2
-
20
-
-
0022509951
-
Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?
-
Knorr D, Bidlingmaier F, Höller W, Kuhnle U, Meiler B, Nachman A. Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children? Acta Endocrin Suppl. 279:1986;284-287.
-
(1986)
Acta Endocrin Suppl
, vol.279
, pp. 284-287
-
-
Knorr, D.1
Bidlingmaier, F.2
Höller, W.3
Kuhnle, U.4
Meiler, B.5
Nachman, A.6
-
21
-
-
0028949603
-
Molecular abnormalities of the 21-hydroxylase gene in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation
-
Azziz R, Owerbach D. Molecular abnormalities of the 21-hydroxylase gene in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation. Am J Obstet Gynecol. 172:1995;914-918.
-
(1995)
Am J Obstet Gynecol
, vol.172
, pp. 914-918
-
-
Azziz, R.1
Owerbach, D.2
-
22
-
-
0028916315
-
Phenotype/genotype correlations in 21-hydroxylase deficiency
-
Siegel S F, Lee P A, Rudert W A, Swinyard M, Trucco M. Phenotype/genotype correlations in 21-hydroxylase deficiency. Adolesc Pediatr Gynecol. 8:1995;9-16.
-
(1995)
Adolesc Pediatr Gynecol
, vol.8
, pp. 9-16
-
-
Siegel, S.F.1
Lee, P.A.2
Rudert, W.A.3
Swinyard, M.4
Trucco, M.5
-
23
-
-
0028276106
-
Molecular diagnosis of 21-hydroxylase deficiency: Detection of four mutations on a single gel
-
Siegel S F, Hoffman E P, Trucco M. Molecular diagnosis of 21-hydroxylase deficiency: Detection of four mutations on a single gel. Biochem Med Metab Biol. 51:1994;66-73.
-
(1994)
Biochem Med Metab Biol
, vol.51
, pp. 66-73
-
-
Siegel, S.F.1
Hoffman, E.P.2
Trucco, M.3
-
24
-
-
0030030695
-
Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency
-
Witchel S S, Lee P A, Trucco M. Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency. Am J Med Genet. 61:1996;2-9.
-
(1996)
Am J Med Genet
, vol.61
, pp. 2-9
-
-
Witchel, S.S.1
Lee, P.A.2
Trucco, M.3
-
25
-
-
0030666148
-
Newborn screening for 21-hydroxylase deficiency: Results of CYP21 molecular genetic analysis
-
Witchel S F, Nayak S, Suda-Hartman M, Lee P A. Newborn screening for 21-hydroxylase deficiency: Results of CYP21 molecular genetic analysis. J Pediatr. 131:1997;328-331.
-
(1997)
J Pediatr
, vol.131
, pp. 328-331
-
-
Witchel, S.F.1
Nayak, S.2
Suda-Hartman, M.3
Lee, P.A.4
-
27
-
-
0010574528
-
Correlation of ACTH stimulated 17-hydroxyprogesterone (17-OHP) levels in heterozygotes with molecular genotype
-
S, Siegel-Witchel, P, A, Lee, M, Trucco, E, P, Hoffman, 1995, Correlation of ACTH stimulated 17-hydroxyprogesterone (17-OHP) levels in heterozygotes with molecular genotype. Endocrine Society Annual Meeting.
-
(1995)
Endocrine Society Annual Meeting
-
-
Siegel-Witchel, S.1
Lee, P.A.2
Trucco, M.3
Hoffman, E.P.4
-
28
-
-
0030838040
-
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
S, F, Witchel, P, A, Lee, M, Suda-Hartman, M, Trucco, E, P, Hoffman, Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J Clin Endocrinol Metab, 82, 2097, 2101.
-
J Clin Endocrinol Metab
, vol.82
, pp. 2097
-
-
Witchel, S.F.1
Lee, P.A.2
Suda-Hartman, M.3
Trucco, M.4
Hoffman, E.P.5
-
29
-
-
0011944522
-
Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: Possible gene conversion products
-
Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA. 85:1988;7486-7490.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 7486-7490
-
-
Higashi, Y.1
Tanae, A.2
Inoue, H.3
Hiromasa, T.4
Fujii-Kuriyama, Y.5
-
31
-
-
0026020826
-
Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency
-
Mornet E, Crété P, Kuttenn F, Raux-Demay M-C, Boué J, White P C, Boué A. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet. 48:1991;79-88.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 79-88
-
-
Mornet, E.1
Crété, P.2
Kuttenn, F.3
Raux-Demay, M.-C.4
Boué, J.5
White, P.C.6
Boué, A.7
-
32
-
-
0026604940
-
Salt-wasting congenital adrenal hyperplasia: Detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction
-
Owerbach D, Ballard A L, Draznin M B. Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction. J Clin Endocrinol Metab. 74:1992;553-558.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 553-558
-
-
Owerbach, D.1
Ballard, A.L.2
Draznin, M.B.3
-
33
-
-
0028154269
-
Clinical Review 54. Genetics, diagnosis, and management of 21-hydroxylase deficiency
-
Miller W L. Clinical Review 54. Genetics, diagnosis, and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab. 78:1994;241-246.
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 241-246
-
-
Miller, W.L.1
-
34
-
-
0028208951
-
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
-
Wedell A, Thilén A, Ritzén E M, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab. 78:1994;1145-1152.
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 1145-1152
-
-
Wedell, A.1
Thilén, A.2
Ritzén, E.M.3
Stengler, B.4
Luthman, H.5
-
36
-
-
0010572075
-
Nonclassical forms of 21-hydroxylase deficiency revisited by molecular biology
-
V, Tardy, J, C, Carel, M, G, Forest, M, Nicolino, M, Pugeat, M, C, Raux-Demay, Y, Morel, 1996, Nonclassical forms of 21-hydroxylase deficiency revisited by molecular biology. Endocrine Society/ICE Meeting.
-
(1996)
Endocrine Society/ICE Meeting
-
-
Tardy, V.1
Carel, J.C.2
Forest, M.G.3
Nicolino, M.4
Pugeat, M.5
Raux-Demay, M.C.6
Morel, Y.7
-
37
-
-
0016723840
-
Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia
-
Lee P A, Gareis F J. Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia. J Clin Endocrinol Metab. 41:1975;415-418.
-
(1975)
J Clin Endocrinol Metab
, vol.41
, pp. 415-418
-
-
Lee, P.A.1
Gareis, F.J.2
-
38
-
-
0017505484
-
Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone
-
Krensky A M, Bongiovanni A M, Marino J, Parks J, Tenore A. Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone. J Pediatr. 90:1977;930-933.
-
(1977)
J Pediatr
, vol.90
, pp. 930-933
-
-
Krensky, A.M.1
Bongiovanni, A.M.2
Marino, J.3
Parks, J.4
Tenore, A.5
-
39
-
-
0020556434
-
Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data
-
New M I, Lorenzen F, Lerner A J, Kohn B, Oberfield S E, Pollack M S, Dupont B, Stoner E, Levy D J, Pang S, Levine L S. Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data. J Clin Endocrinol Metab. 57:1983;320-326.
-
(1983)
J Clin Endocrinol Metab
, vol.57
, pp. 320-326
-
-
New, M.I.1
Lorenzen, F.2
Lerner, A.J.3
Kohn, B.4
Oberfield, S.E.5
Pollack, M.S.6
Dupont, B.7
Stoner, E.8
Levy, D.J.9
Pang, S.10
Levine, L.S.11
-
40
-
-
8044252582
-
High prevalence of carriers for steroid 21-hydroxylase deficiency in females with post-adolescent acne
-
J, W, Honour, G, Rumsby, P, Holownia, L, Ostlere, M, HA, Rustin, 1994, High prevalence of carriers for steroid 21-hydroxylase deficiency in females with post-adolescent acne. 76th Annual Meeting of the Endocrine Society.
-
(1994)
76th Annual Meeting of the Endocrine Society
-
-
Honour, J.W.1
Rumsby, G.2
Holownia, P.3
Ostlere, L.4
Rustin, M.H.A.5
-
41
-
-
0031031621
-
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism
-
Knochenhauer E S, Cortet-Rudelli C, Cunningham R D, Conway-Meyers B A, Dewailly D, Azziz R. Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism. J Clin Endocrinol Metab. 82:1997;479-485.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 479-485
-
-
Knochenhauer, E.S.1
Cortet-Rudelli, C.2
Cunningham, R.D.3
Conway-Meyers, B.A.4
Dewailly, D.5
Azziz, R.6
-
42
-
-
0025355589
-
Mutations in the insulin receptor gene in insulin-resistant patients
-
Taylor S I, Kadowaki T, Kadowaki H, Accili D, Cama A, McKeon C. Mutations in the insulin receptor gene in insulin-resistant patients. Diabetes Care. 13:1990;257-279.
-
(1990)
Diabetes Care
, vol.13
, pp. 257-279
-
-
Taylor, S.I.1
Kadowaki, T.2
Kadowaki, H.3
Accili, D.4
Cama, A.5
McKeon, C.6
-
43
-
-
0029893417
-
A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling. Evidence from transfection studies
-
Almind K, Inoue G, Pedersen O, Kahn C R. A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling. Evidence from transfection studies. J Clin Invest. 97:1996;2569-2575.
-
(1996)
J Clin Invest
, vol.97
, pp. 2569-2575
-
-
Almind, K.1
Inoue, G.2
Pedersen, O.3
Kahn, C.R.4
-
44
-
-
0026574154
-
Women with polycystic ovary syndrome wedge resected in 1956 to 1965: A long term follow up focusing on natural history and circulating hormones
-
Dahlgren E, Johansson S, Lindstedt G, Knutsson F, Odén A, Janson P O, Mattson L-A, Crona N, Lundberg P A. Women with polycystic ovary syndrome wedge resected in 1956 to 1965: A long term follow up focusing on natural history and circulating hormones. Fertil Steril. 57:1992;505-513.
-
(1992)
Fertil Steril
, vol.57
, pp. 505-513
-
-
Dahlgren, E.1
Johansson, S.2
Lindstedt, G.3
Knutsson, F.4
Odén, A.5
Janson, P.O.6
Mattson, L.-A.7
Crona, N.8
Lundberg, P.A.9
|