-
6
-
-
0011152707
-
-
Biglieri EG, Edwards CRW, Funder JW, Mantero F, Saruta T, Scoggins BA, Takeda R, Vallotton MB, eds. Ares-Serona Symposium. Low-Renin Hypertension of Childhood. Tokyo: Raven Press
-
(1989)
, pp. 323-343
-
-
New, M.I.1
Nemery, R.L.2
Chow, D.M.3
Kaufman, E.D.4
Stoner, E.5
Zerah, M.6
Crawford, C.7
Speiser, P.W.8
-
7
-
-
0006562397
-
Characterization of urinary steroids in adrenal hyperplasia: Isolation of metabolites of cortisol, compound S, and deoxycorticosterone from a normotensive patient with adrenogenital syndrome
-
(1960)
J Clin Invest
, vol.39
, pp. 364-377
-
-
Gandy, H.M.1
Keutmann, E.H.2
Izzo, A.J.3
-
9
-
-
0006612719
-
Die beta-Ketolischen Cortisol und Corticosteronmetaboliten sowie die 11-Oxy-und 11-Desoxy-17-ketosteroide im Urin von Kindern
-
(1970)
Acta Endocrinol
, vol.59
, Issue.SUPPL. 134
, pp. 9-112
-
-
Blunck, W.1
-
13
-
-
0031788038
-
Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3996-4001
-
-
Mulatero, P.1
Curnow, K.M.2
Aupetit-Faisant, B.3
Foekling, M.4
Gomez-Sanchez, C.5
Veglio, F.6
Jeunemaitre, X.7
Corvol, P.8
Pascoe, L.9
-
16
-
-
0025361449
-
First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency)
-
(1990)
J Clin Endocrinol Metab
, vol.70
, pp. 838-848
-
-
Speiser, P.W.1
Laforgia, N.2
Kato, K.3
Pareira, J.4
Khan, R.5
Yang, S.Y.6
Whorwood, C.7
White, P.C.8
Elias, S.9
Schriock, E.10
Schriock, E.11
Simpson, J.L.12
Taslimi, M.13
Najjar, J.14
May, S.15
Mills, G.16
Crawford, C.17
New, M.I.18
-
19
-
-
0027173431
-
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 4552-4556
-
-
Curnow, K.M.1
Slutsker, L.2
Vitek, J.3
Cole, T.4
Speiser, P.W.5
New, M.I.6
White, P.C.7
Pascoe, L.8
-
20
-
-
10144250291
-
CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2896-2901
-
-
Geley, S.1
Kapelari, K.2
Johrer, K.3
Peter, M.4
Glatzl, J.5
Vierhapper, H.6
Schwarz, S.7
Helmberg, A.8
Sippell, W.G.9
White, P.C.10
Kofler, R.11
-
22
-
-
0033305323
-
Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 3129-3134
-
-
Cerame, B.I.1
Newfield, R.S.2
Pascoe, L.3
Curnow, K.M.4
Nimkarn, S.5
Roe, T.F.6
New, M.I.7
Wilson, R.C.8
-
26
-
-
0018598286
-
A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol
-
(1979)
J Clin Endocrinol Metab
, vol.49
, pp. 757-764
-
-
Ulick, S.1
Levine, L.S.2
Gunczler, P.3
Zanconato, G.4
Ramirez, L.C.5
Rauh, W.6
Rösler, A.7
Bradlow, H.L.8
New, M.I.9
-
27
-
-
13144265720
-
A genetic defect resulting in mild low-renin hypertension
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 10200-10205
-
-
Wilson, R.C.1
Dave-Sharma, S.2
Wei, J.3
Obeyesekere, V.R.4
Li, K.5
Ferrari, P.6
Krozowski, Z.S.7
Shackleton, C.H.L.8
Bradlow, L.9
Wiens, T.10
New, M.I.11
-
31
-
-
7844240856
-
Extensive personal experience: Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 2244-2254
-
-
Dave-Sharma, S.1
Wilson, R.C.2
Harbison, M.D.3
Newfield, R.4
Razzaghy-Azar, M.5
Krozowski, Z.6
Funder, J.W.7
Shackleton, C.H.L.8
Bradlow, H.L.9
Wei, J.10
Hertecant, J.11
Moran, A.12
Neiberger, R.E.13
Balfe, J.W.14
Fattah, A.15
Daneman, D.16
Akkurt, H.I.17
DeSantis, C.18
New, M.I.19
-
32
-
-
0023792158
-
Purification and characterization of the corticosteroid 11 beta-dehydrogenase component of the rat liver 11 beta-hydroxysteroid dehydrogenase complex
-
(1988)
Endocrinology
, vol.123
, pp. 2390-2398
-
-
Lakshmi, V.1
Monder, C.2
-
37
-
-
0029060080
-
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 2263-2266
-
-
Wilson, R.C.1
Krozowski, Z.S.2
Li, K.3
Obeyesekere, V.R.4
Razzaghy-Azar, M.5
Harbison, M.D.6
Wei, J.Q.7
Shackleton, C.H.L.8
Funder, J.W.9
New, M.I.10
-
38
-
-
0028785017
-
Several homozygous mutations in the gene for 11β-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 3145-3150
-
-
Wilson, R.C.1
Harbison, M.D.2
Krozowski, Z.S.3
Funder, J.W.4
Shackleton, C.H.L.5
Hanauske-Able, H.M.6
Wei, J.Q.7
Hertecant, J.8
Moran, A.9
Neiberger, R.E.10
Balfe, J.W.11
Fattah, A.12
Daneman, D.13
Licholai, T.14
New, M.I.15
-
41
-
-
0030833094
-
A new compound heterozygous mutation in the 11 β-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 4054-4058
-
-
Kitanaka, S.1
Katsumata, N.2
Tanae, A.3
Hibi, I.4
Takeyama, K.5
Fuse, H.6
Kato, S.7
Tanaka, T.8
-
42
-
-
6844237653
-
Apparent mineralocorticoid excess in a Brazilian kindred: Hypertension in the heterozygote state
-
(1997)
J Hypertens
, vol.15
, pp. 1397-1402
-
-
Li, A.1
Li, K.X.Z.2
Marui, S.3
Krozowski, Z.S.4
Batista, M.C.5
Whorwood, C.B.6
Amhold, I.J.P.7
Shackleton, C.H.L.8
Mendonca, B.B.9
Stewart, P.M.10
-
43
-
-
0032231654
-
Molecular basis for hypertension in the "type 11 variant" of apparent mineralocorticoid excess
-
(1998)
Am J Hum Genet
, vol.63
, pp. 370-379
-
-
Li, A.1
Tedde, R.2
Krozowski, Z.S.3
Pala, A.4
Li, K.X.5
Shackleton, C.H.6
Mantero, F.7
Palermo, M.8
Stewart, P.M.9
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