-
1
-
-
0035028517
-
Steroid 11β-hydroxylase deficiency and related disorders
-
White PC 2001 Steroid 11β-hydroxylase deficiency and related disorders. Endocrinol Metab Clin North Am 30:61-79
-
(2001)
Endocrinol Metab Clin North Am
, vol.30
, pp. 61-79
-
-
White, P.C.1
-
2
-
-
0032696697
-
Disorders of the aldosterone synthase and steroid 11β-hydroxylase deficiencies
-
Peter M, Dubuis JM, Sippell WG 1999 Disorders of the aldosterone synthase and steroid 11β-hydroxylase deficiencies. Horm Res 51:211-222
-
(1999)
Horm Res
, vol.51
, pp. 211-222
-
-
Peter, M.1
Dubuis, J.M.2
Sippell, W.G.3
-
3
-
-
0344084434
-
Inborn errors of adrenal steroidogenesis
-
New MI 2003 Inborn errors of adrenal steroidogenesis. Mol Cell Endocrinol 211:75-83
-
(2003)
Mol Cell Endocrinol
, vol.211
, pp. 75-83
-
-
New, M.I.1
-
4
-
-
0021874705
-
Growth and pubertal development in congenital adrenal hyperplasia due to 11-hydroxylase deficiency
-
Hochberg Z, Schachter Y, Benderly A, Leiberman E, Rosler A 1985 Growth and pubertal development in congenital adrenal hyperplasia due to 11-hydroxylase deficiency. Am J Dis Child 139:771-776
-
(1985)
Am J Dis Child
, vol.139
, pp. 771-776
-
-
Hochberg, Z.1
Schachter, Y.2
Benderly, A.3
Leiberman, E.4
Rosler, A.5
-
5
-
-
0021364266
-
Salt loss in hypertensive form of congenital adrenal hyperplasia (11-hydroxylase deficiency)
-
Zadik Z, Kahana L, Kaufman H, Benderly A, Hochberg Z 1984 Salt loss in hypertensive form of congenital adrenal hyperplasia (11-hydroxylase deficiency). J Clin Endocrinol Metab 58:384-387
-
(1984)
J Clin Endocrinol Metab
, vol.58
, pp. 384-387
-
-
Zadik, Z.1
Kahana, L.2
Kaufman, H.3
Benderly, A.4
Hochberg, Z.5
-
6
-
-
0021677990
-
Salt loss in congenital adrenal hyperplasia due to 11-hydroxylase deficiency
-
Hochberg Z, Benderly A, Zadik Z 1984 Salt loss in congenital adrenal hyperplasia due to 11-hydroxylase deficiency. Arch Dis Child 59:1092-2094
-
(1984)
Arch Dis Child
, vol.59
, pp. 1092-2094
-
-
Hochberg, Z.1
Benderly, A.2
Zadik, Z.3
-
7
-
-
0022578346
-
Requirement of mineralocorticoid in congenital adrenal hyperplasia due to 11-hydroxylase deficiency
-
Hochberg Z, Benderly A, Kahana L, Zadik Z 1986 Requirement of mineralocorticoid in congenital adrenal hyperplasia due to 11-hydroxylase deficiency. J Clin Endocrinol Metab 63:36-40
-
(1986)
J Clin Endocrinol Metab
, vol.63
, pp. 36-40
-
-
Hochberg, Z.1
Benderly, A.2
Kahana, L.3
Zadik, Z.4
-
8
-
-
0027173431
-
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8
-
Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, White PC, Pascoe L 1993 Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci USA 90:4552-4556
-
(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
-
9
-
-
10144250291
-
CYP11B1 mutations causing congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
-
Geley S, Kapelari K, Johrer K, Peter M, Glatzl J, Vierhapper H, Schwarz S, Helmberg A, Sippell WG, White PC, Kofler R 1996 CYP11B1 mutations causing congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. J Clin Endocrinol Metab 81:2896-2901
-
(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
-
10
-
-
0029934477
-
Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene
-
Skinner CA, Rumsby G, Honour JW 1996 Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. J Clin Endocrinol Metab 81:2389-2393
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2389-2393
-
-
Skinner, C.A.1
Rumsby, G.2
Honour, J.W.3
-
11
-
-
0034524490
-
Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
-
Chabre O, Portrat-Doyen S, Vivier J, Morel Y, Defaye G 2000 Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Endocr Res 26:797-801
-
(2000)
Endocr Res
, vol.26
, pp. 797-801
-
-
Chabre, O.1
Portrat-Doyen, S.2
Vivier, J.3
Morel, Y.4
Defaye, G.5
-
12
-
-
0031790708
-
Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency
-
Merke DP, Tajima T, Chhabra A, Barnes K, Mancilla E, Baron J, Cutler Jr GB 1998 Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency. J Clin Endocrinol Metab 83:270-273
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 270-273
-
-
Merke, D.P.1
Tajima, T.2
Chhabra, A.3
Barnes, K.4
Mancilla, E.5
Baron, J.6
Cutler Jr., G.B.7
-
13
-
-
0345167033
-
A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11β-hydroxylase form of congenital adrenal hyperplasia
-
Kuribayashi I, Massa G, van den Tooren-de Groot HK, Oostdijk W, Wit JM, Shizuta Y 2003 A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11β-hydroxylase form of congenital adrenal hyperplasia. Endocr Res 29:377-381
-
(2003)
Endocr Res
, vol.29
, pp. 377-381
-
-
Kuribayashi, I.1
Massa, G.2
Van Den Tooren-de Groot, H.K.3
Oostdijk, W.4
Wit, J.M.5
Shizuta, Y.6
-
14
-
-
0141746303
-
Mutations in CYP11B1 gene: Phenotype-genotype correlations
-
Zhu YS, Cordero JJ, Can S, Cai LQ, You X, Herrera C, DeFillo-Ricart M, Shackleton C, Imperato-McGinley J 2003 Mutations in CYP11B1 gene: phenotype-genotype correlations. Am J Med Genet 122A:193-200
-
(2003)
Am J Med Genet
, vol.122 A
, pp. 193-200
-
-
Zhu, Y.S.1
Cordero, J.J.2
Can, S.3
Cai, L.Q.4
You, X.5
Herrera, C.6
DeFillo-Ricart, M.7
Shackleton, C.8
Imperato-McGinley, J.9
-
15
-
-
0020698346
-
Clinical and biochemical variability of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: A study of 25 patients
-
Zachmann M, Tassinari D, Prader A 1983 Clinical and biochemical variability of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a study of 25 patients. J Clin Endocrinol Metab 56:222-229
-
(1983)
J Clin Endocrinol Metab
, vol.56
, pp. 222-229
-
-
Zachmann, M.1
Tassinari, D.2
Prader, A.3
-
16
-
-
0026591712
-
High frequency of congenital adrenal hyperplasia (classic 11β-hydroxylase deficiency) among Jews from Morocco
-
Rosler A, Leiberman E, Cohen T 1992 High frequency of congenital adrenal hyperplasia (classic 11β-hydroxylase deficiency) among Jews from Morocco. Am J Med Genet 42:827-834
-
(1992)
Am J Med Genet
, vol.42
, pp. 827-834
-
-
Rosler, A.1
Leiberman, E.2
Cohen, T.3
-
18
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
19
-
-
0035865977
-
Caudal dysplasia sequence with penile enlargement: Case report and a potential pathogenic hypothesis
-
Makhoul IR, Aviram-Goldring A, Paperna T, Sujov P, Rienstein S, Smolkin T, Epelman M, Gershoni-Baruch R 2001 Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis. Am J Med Genet 99:54-58
-
(2001)
Am J Med Genet
, vol.99
, pp. 54-58
-
-
Makhoul, I.R.1
Aviram-Goldring, A.2
Paperna, T.3
Sujov, P.4
Rienstein, S.5
Smolkin, T.6
Epelman, M.7
Gershoni-Baruch, R.8
-
20
-
-
0027521102
-
Mutations in human 11β-hydroxylase genes: 11β-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran
-
Rosler A, White PC 1993 Mutations in human 11β-hydroxylase genes: 11β-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran. J Steroid Biochem Mol Biol 45:99-106
-
(1993)
J Steroid Biochem Mol Biol
, vol.45
, pp. 99-106
-
-
Rosler, A.1
White, P.C.2
|