-
1
-
-
33645103135
-
Consanguinity: Implications for practice, research, and policy
-
Teebi AS, El-Shanti HI. Consanguinity: Implications for practice, research, and policy. Lancet 2006;367:970-1.
-
(2006)
Lancet
, vol.367
, pp. 970-971
-
-
Teebi, A.S.1
El-Shanti, H.I.2
-
2
-
-
0031046241
-
11beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess
-
White PC, Mune T, Agarwal AK. 11beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev 1997;18:135-56.
-
(1997)
Endocr Rev
, vol.18
, pp. 135-156
-
-
White, P.C.1
Mune, T.2
Agarwal, A.K.3
-
3
-
-
27744445759
-
Mendelian forms of human hypertension and mechanisms of disease
-
Luft FC. Mendelian forms of human hypertension and mechanisms of disease. Clin Med Res 2003;1:291-300.
-
(2003)
Clin Med Res
, vol.1
, pp. 291-300
-
-
Luft, F.C.1
-
4
-
-
33750697604
-
Apparent mineralocorticoid excess: Report of six new cases and extensive personal experience
-
Morineau G, Sulmont V, Salomon R, Fiquet-Kempf B, Jeunamaitre X, Nicod J, et al. Apparent mineralocorticoid excess: Report of six new cases and extensive personal experience. J Am Soc Nephrol 2006;17:3176-84.
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 3176-3184
-
-
Morineau, G.1
Sulmont, V.2
Salomon, R.3
Fiquet-Kempf, B.4
Jeunamaitre, X.5
Nicod, J.6
-
5
-
-
0028034209
-
Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme
-
Albiston AL, Obeyesekere VR, Smith RE, Krozowski ZS. Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme. Mol Cell Endocrinol 1994;105:R11-7.
-
(1994)
Mol Cell Endocrinol
, vol.105
, pp. R11-R17
-
-
Albiston, A.L.1
Obeyesekere, V.R.2
Smith, R.E.3
Krozowski, Z.S.4
-
6
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, et al. Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 1989;245:1059-65.
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.3
Drumm, M.L.4
Melmer, G.5
Dean, M.6
-
7
-
-
0030444810
-
Exclusion of corticosterone from epithelial mineralocorticoid receptors is insufficient for selectivity of aldosterone action: In vivo binding studies
-
Funder J, Myles K. Exclusion of corticosterone from epithelial mineralocorticoid receptors is insufficient for selectivity of aldosterone action: In vivo binding studies. Endocrinology 1996;137:5264-8.
-
(1996)
Endocrinology
, vol.137
, pp. 5264-5268
-
-
Funder, J.1
Myles, K.2
-
8
-
-
84872922814
-
Apparent mineralocorticoid excess syndrome: Report of one family with three affected children
-
Al-Harbi T, Al-Shaikh A. Apparent mineralocorticoid excess syndrome: Report of one family with three affected children. J Pediatr Endocrinol Metab 2012;25:1083-8.
-
(2012)
J Pediatr Endocrinol Metab
, vol.25
, pp. 1083-1088
-
-
Al-Harbi, T.1
Al-Shaikh, A.2
-
10
-
-
0034109607
-
Genotype and phenotype in cystic fibrosis
-
Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67:1170-33.
-
(2000)
Respiration
, vol.67
, pp. 1170-1233
-
-
Zielenski, J.1
-
11
-
-
0027530474
-
Dysfunction of the placental glucocorticoid barrier: Link between fetal environmental and hypertension?
-
Edwards CR Benediktsson R, Lindsay RS, Seckl JR. Dysfunction of the placental glucocorticoid barrier: Link between fetal environmental and hypertension? Lancet 1993;341:355-7.
-
(1993)
Lancet
, vol.341
, pp. 355-357
-
-
Edwards, C.R.1
Benediktsson, R.2
Lindsay, R.S.3
Seckl, J.R.4
-
12
-
-
84865511140
-
Failure to down regulate the epithelial sodium channel causes salts sensitivity in hsd11b2 heterozygote mice
-
Craigie E, Evans LC, Mullins JJ, Bailey MA. Failure to down regulate the epithelial sodium channel causes salts sensitivity in hsd11b2 heterozygote mice. Hypertension 2012;60:684-90.
-
(2012)
Hypertension
, vol.60
, pp. 684-690
-
-
Craigie, E.1
Evans, L.C.2
Mullins, J.J.3
Bailey, M.A.4
-
13
-
-
79957909024
-
Apparent mineralocorticoid excess: Time of manifestation and complications despite treatment
-
Knops NB, Monnens LA, Lenders JW, Levtchenko EN. Apparent mineralocorticoid excess: Time of manifestation and complications despite treatment. Pediatrics 2011;127:e1610-4.
-
(2011)
Pediatrics
, vol.127
, pp. e1610-e1614
-
-
Knops, N.B.1
Monnens, L.A.2
Lenders, J.W.3
Levtchenko, E.N.4
-
14
-
-
20244385677
-
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population
-
Quinkler M, Bappal B, Draper N, Atterbury AJ, Lavery GG, Walker EA, et al. Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. Mol Cell Endocrinol 2004;217:143-9.
-
(2004)
Mol Cell Endocrinol
, vol.217
, pp. 143-149
-
-
Quinkler, M.1
Bappal, B.2
Draper, N.3
Atterbury, A.J.4
Lavery, G.G.5
Walker, E.A.6
-
15
-
-
84919968379
-
Mineralocorticoid Selectivity: Role of 11 βhSD2 and Other Mechanism
-
Paolo F, Zygmunt K. Mineralocorticoid Selectivity: Role of 11 βHSD2 and Other Mechanism. Kidney Int 2000;57:1374-81.
-
(2000)
Kidney Int
, vol.57
, pp. 1374-1381
-
-
Paolo, F.1
Zygmunt, K.2
-
16
-
-
23844516967
-
11beta-Hydroxysteroid dehydrogenase and the pre-receptor regulation of corticosteroid hormone action
-
Draper N, Stewart PM. 11beta-Hydroxysteroid dehydrogenase and the pre-receptor regulation of corticosteroid hormone action. J Endocrinol 2005;186:251-71.
-
(2005)
J Endocrinol
, vol.186
, pp. 251-271
-
-
Draper, N.1
Stewart, P.M.2
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