-
1
-
-
0038310289
-
Congenital adrenal hyperplasia and related condition
-
Stanbury IB, Wyngaarden JB, Fredrieksen DS, Goldstein JL (eds). New York, McGraw-Hill
-
NEW ML, DUPONT B, GRUMBACH K, LEVINE LS. Congenital adrenal hyperplasia and related condition. In: Stanbury IB, Wyngaarden JB, Fredrieksen DS, Goldstein JL (eds) The metabolic basis of inherited disease. 5th ed. New York, McGraw-Hill, 1983:973-1000
-
(1983)
The Metabolic Basis of Inherited Disease. 5th Ed.
, pp. 973-1000
-
-
New, M.L.1
Dupont, B.2
Grumbach, K.3
Levine, L.S.4
-
3
-
-
0022219639
-
High frequency of nonclassical steroid 21-hydroxylase deficiency
-
SPEISER PW, DUPONT B, RUBENSTEIN P, PIAZZA A, KASTELAN A, NEW ML. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985, 37:650-657
-
(1985)
Am J Hum Genet
, vol.37
, pp. 650-657
-
-
Speiser, P.W.1
Dupont, B.2
Rubenstein, P.3
Piazza, A.4
Kastelan, A.5
New, M.L.6
-
4
-
-
0027954787
-
Nonclassic adrenal hyperplasia: Current concepts (clinical review 56)
-
AZZIZ R, DEWAILLY P, OWERBACH P. Nonclassic adrenal hyperplasia: current concepts (clinical review 56). J Clin Endocrinol Metab 1994, 78:810-815
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 810-815
-
-
Azziz, R.1
Dewailly, P.2
Owerbach, P.3
-
5
-
-
0026525093
-
Genetic basis of endocrine disease 2: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
WHITE DC, NEW ML. Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1992, 74:6-11
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 6-11
-
-
White, D.C.1
New, M.L.2
-
6
-
-
0028154269
-
Genetics diagnosis and management of 21-hydroxylase deficiency
-
MILLER PW. Genetics, diagnosis and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994, 78:241-246
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 241-246
-
-
Miller, P.W.1
-
7
-
-
0031031621
-
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism
-
KNOCHENBAUER E, CORTET-RUDELLI C, GUNNIGHAM R, CONWAY-MAYERS B, DEWAILLY D, AZZIZ R. Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism. J Clin Endocrinol Metab 1997, 82:479-485
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 479-485
-
-
Knochenbauer, E.1
Cortet-Rudelli, C.2
Gunnigham, R.3
Conway-Mayers, B.4
Dewailly, D.5
Azziz, R.6
-
8
-
-
0023231552
-
Late onset congenital adrenal hyperplasia: A gynecologist's perspective
-
BRODIE B, WENTZ A. Late onset congenital adrenal hyperplasia: a gynecologist's perspective. Fertil Steril 1987, 48:178-188
-
(1987)
Fertil Steril
, vol.48
, pp. 178-188
-
-
Brodie, B.1
Wentz, A.2
-
9
-
-
0022761777
-
Genetics of adrenal steroid 21 hydroxylase deficiency
-
NEW ML, SPEISER PW. Genetics of adrenal steroid 21 hydroxylase deficiency. Endocr Rev 1980, 7:331-349
-
(1980)
Endocr Rev
, vol.7
, pp. 331-349
-
-
New, M.L.1
Speiser, P.W.2
-
10
-
-
0017608193
-
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency)
-
DUPONT B, OBERFIELD SE, SMITHWICK EM, LEE TD, LEVINE LS. Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet ii:1309-1311
-
Lancet
, vol.2
, pp. 1309-1311
-
-
Dupont, B.1
Oberfield, S.E.2
Smithwick, E.M.3
Lee, T.D.4
Levine, L.S.5
-
11
-
-
0021914293
-
Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man
-
WHITE PC, GROSSBERGER D, ONUFER BJ, NEW ML, DUPONT B, STROMINGER JL. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Acad Sci USA 1985, 82:521-525
-
(1985)
Proc Acad Sci USA
, vol.82
, pp. 521-525
-
-
White, P.C.1
Grossberger, D.2
Onufer, B.J.3
New, M.L.4
Dupont, B.5
Strominger, J.L.6
-
12
-
-
0020296241
-
Late onset steroid 21-hydroxylase deficiency: A variant of classical CAH
-
KOHN B, LEVINE LS, POLLACK MS, PANG S, LORENSEN F. Late onset steroid 21-hydroxylase deficiency: a variant of classical CAH. J Clin Endocrinol Metab 1982: 55:817-825
-
(1982)
J Clin Endocrinol Metab
, vol.55
, pp. 817-825
-
-
Kohn, B.1
Levine, L.S.2
Pollack, M.S.3
Pang, S.4
Lorensen, F.5
-
13
-
-
0019191890
-
Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia
-
LEVINE LS, DUPONT B, LORENSN F, PANG S, POLLACK MS, OBERFIELD S ET AL. Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 1980, 51:1316-1324
-
(1980)
J Clin Endocrinol Metab
, vol.51
, pp. 1316-1324
-
-
Levine, L.S.1
Dupont, B.2
Lorensn, F.3
Pang, S.4
Pollack, M.S.5
Oberfield, S.6
-
14
-
-
0031961227
-
The incidence of 21-hydroxylase deficiency in Greek hyperandrogenic women: Screening and diagnosis
-
TRAKAKIS E, CHRYSSIKOPOULOS A, PHOCAS L, SARANDOAKOU A, RIZOS D, STAVROPOULOS-GIOKAS C. The incidence of 21-hydroxylase deficiency in Greek hyperandrogenic women: screening and diagnosis. Gynecol Endocrinol 1998, 12:89-96
-
(1998)
Gynecol Endocrinol
, vol.12
, pp. 89-96
-
-
Trakakis, E.1
Chryssikopoulos, A.2
Phocas, L.3
Sarandoakou, A.4
Rizos, D.5
Stavropoulos-Giokas, C.6
-
15
-
-
0020622554
-
Prevalence of salt-losing among congenital adrenal hyperplasia patients
-
FIFE D, RAPPAPORT EB. Prevalence of salt-losing among congenital adrenal hyperplasia patients. Clin Endocrinol 1993, 19:259-264
-
(1993)
Clin Endocrinol
, vol.19
, pp. 259-264
-
-
Fife, D.1
Rappaport, E.B.2
-
16
-
-
0020556434
-
Genotyping steroid 21-hydroxylase deficiency: Hormonal references data
-
NEW ML, LORENZEN F, LERNER AJ, KOHN B, OBERFIELD ST, POLLACK MS. Genotyping steroid 21-hydroxylase deficiency: hormonal references data. J Clin Endocrinol Metab 1983, 57:320-334
-
(1983)
J Clin Endocrinol Metab
, vol.57
, pp. 320-334
-
-
New, M.L.1
Lorenzen, F.2
Lerner, A.J.3
Kohn, B.4
Oberfield, S.T.5
Pollack, M.S.6
-
17
-
-
0037634723
-
Congenital adrenal hyperplasia
-
Terasaki PI (ed). UCLA Tissue Typing Laboratory, Los Angeles
-
DUPONT B, POLLACK MS, LEVINE LS, O'NEILL CJ, HAWKINS BR, NEW ML. Congenital adrenal hyperplasia. In: Terasaki PI (ed) Histocompatibility Testing. UCLA Tissue Typing Laboratory, Los Angeles, 1980:693
-
(1980)
Histocompatibility Testing
, pp. 693
-
-
Dupont, B.1
Pollack, M.S.2
Levine, L.S.3
O'Neill, C.J.4
Hawkins, B.R.5
New, M.L.6
-
19
-
-
0023749845
-
Characterization of frequent deletions causing 21-hydroxylase deficiency
-
WHITE PC, VITEN A, DUPONT B, NEW ML. Characterization of frequent deletions causing 21-hydroxylase deficiency. Proc Natl Acad Sci USA 1988, 85:4436-4440
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 4436-4440
-
-
White, P.C.1
Viten, A.2
Dupont, B.3
New, M.L.4
-
20
-
-
0025935967
-
Clinical molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
MORELL Y, MILLER WL. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 1991, 20:1-68
-
(1991)
Adv Hum Genet
, vol.20
, pp. 1-68
-
-
Morell, Y.1
Miller, W.L.2
-
21
-
-
0026604940
-
Salt wasting congenital adrenal hyperplasia: Detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP 21, using the polymerase chain reaction
-
OWERBACH D, BAILLARD AZ, DRAZNIN MB. Salt wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP 21, using the polymerase chain reaction. J Clin Endocrinol Metab 1992, 74:553-558
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 553-558
-
-
Owerbach, D.1
Baillard, A.Z.2
Draznin, M.B.3
-
22
-
-
0023078504
-
Genetics of steroid 21-hydroxylase deficiency
-
WHITE PC. Genetics of steroid 21-hydroxylase deficiency. Rec Prog Horm Res 1987, 43:305-316
-
(1987)
Rec Prog Horm Res
, vol.43
, pp. 305-316
-
-
White, P.C.1
-
25
-
-
0025773734
-
A maturation (Pro 30 -> Leu) in CYP 21 represents a potential non-classic steroid 21-hydroxylase deficiency allele
-
TUSIE-LUNA MT, SPEISER PW, DUMIC M, NEW ML, WHITE PC. A maturation (Pro 30 -> Leu) in CYP 21 represents a potential non-classic steroid 21-hydroxylase deficiency allele. Mol Endocrinol 1999, 5:685-692
-
(1999)
Mol Endocrinol
, vol.5
, pp. 685-692
-
-
Tusie-Luna, M.T.1
Speiser, P.W.2
Dumic, M.3
New, M.L.4
White, P.C.5
-
26
-
-
0026697812
-
Pro-453 -> Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency
-
OWERBACH D, SHERMAN L, BALLARD AL, ASSIZ R. Pro-453 -> Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. Mol Endocrinol 1992, 6:1211-1215
-
(1992)
Mol Endocrinol
, vol.6
, pp. 1211-1215
-
-
Owerbach, D.1
Sherman, L.2
Ballard, A.L.3
Assiz, R.4
|