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Items: 1 to 20 of 174

1.

Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene.

Lavery GG, Ronconi V, Draper N, Rabbitt EH, Lyons V, Chapman KE, Walker EA, McTernan CL, Giacchetti G, Mantero F, Seckl JR, Edwards CR, Connell JM, Hewison M, Stewart PM.

Hypertension. 2003 Aug;42(2):123-9. Epub 2003 Jul 14.

3.

Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess.

Li A, Tedde R, Krozowski ZS, Pala A, Li KX, Shackleton CH, Mantero F, Palermo M, Stewart PM.

Am J Hum Genet. 1998 Aug;63(2):370-9.

4.

Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state.

Li A, Li KX, Marui S, Krozowski ZS, Batista MC, Whorwood CB, Arnhold IJ, Shackleton CH, Mendonca BB, Stewart PM.

J Hypertens. 1997 Dec;15(12 Pt 1):1397-402.

PMID:
9431844
5.

A genetic defect resulting in mild low-renin hypertension.

Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, Krozowski ZS, Shackleton CH, Bradlow L, Wiens T, New MI.

Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):10200-5. Review.

6.

Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.

Nunez BS, Rogerson FM, Mune T, Igarashi Y, Nakagawa Y, Phillipov G, Moudgil A, Travis LB, Palermo M, Shackleton C, White PC.

Hypertension. 1999 Oct;34(4 Pt 1):638-42.

7.

Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess.

Ferrari P, Obeyesekere VR, Li K, Wilson RC, New MI, Funder JW, Krozowski ZS.

Mol Cell Endocrinol. 1996 May 17;119(1):21-4.

PMID:
8793850
8.

Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population.

Quinkler M, Bappal B, Draper N, Atterbury AJ, Lavery GG, Walker EA, DeSilva V, Taylor NF, Hala S, Rajendra N, Stewart PM.

Mol Cell Endocrinol. 2004 Mar 31;217(1-2):143-9.

PMID:
15134813
9.

Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.

Atanasov AG, Ignatova ID, Nashev LG, Dick B, Ferrari P, Frey FJ, Odermatt A.

J Am Soc Nephrol. 2007 Apr;18(4):1262-70. Epub 2007 Feb 21.

10.

The role of the 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension.

Ferrari P, Lovati E, Frey FJ.

J Hypertens. 2000 Mar;18(3):241-8. Review.

PMID:
10726708
11.

Apparent mineralocorticoid excess.

Wilson RC, Nimkarn S, New MI.

Trends Endocrinol Metab. 2001 Apr;12(3):104-11. Review.

PMID:
11306334
12.

Molecular analysis of 11 beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess.

White PC, Mune T, Rogerson FM, Kayes KM, Agarwal AK.

Steroids. 1997 Jan;62(1):83-8. Review.

PMID:
9029720
13.

Apparent mineralocorticoid excess syndrome: an overview.

Palermo M, Quinkler M, Stewart PM.

Arq Bras Endocrinol Metabol. 2004 Oct;48(5):687-96. Epub 2005 Mar 7. Review.

14.

Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.

Kamide K, Kokubo Y, Hanada H, Nagura J, Yang J, Takiuchi S, Tanaka C, Banno M, Miwa Y, Yoshii M, Matayoshi T, Yasuda H, Horio T, Okayama A, Tomoike H, Kawano Y, Miyata T.

Hypertens Res. 2006 Apr;29(4):243-52.

PMID:
16778331
15.

Mutations in the 11 beta-hydroxysteroid dehydrogenase type II enzyme associated with hypertension and possibly stillbirth.

Krozowski ZS, Stewart PM, Obeyesekere VR, Li K, Ferrari P.

Clin Exp Hypertens. 1997 Jul-Aug;19(5-6):519-29.

PMID:
9247735
16.

Genotype-phenotype correlations of mutations and polymorphisms in HSD11B2, the gene encoding the kidney isozyme of 11beta-hydroxysteroid dehydrogenase.

White PC, Agarwal AK, Nunez BS, Giacchetti G, Mantero F, Stewart PM.

Endocr Res. 2000 Nov;26(4):771-80. Review.

PMID:
11196453
17.

Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene.

Coeli FB, Ferraz LF, Lemos-Marini SH, Rigatto SZ, Belangero VM, de-Mello MP.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1277-81.

19.
20.

A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension.

Odermatt A, Dick B, Arnold P, Zaehner T, Plueschke V, Deregibus MN, Repetto H, Frey BM, Frey FJ, Ferrari P.

J Clin Endocrinol Metab. 2001 Mar;86(3):1247-52.

PMID:
11238516
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