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Results 1 to 25 of 358

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Genetic mapping of the 21-hydroxylase locus: estimation of small recombination frequenciesASTON, C. E; SHERMAN, S. L; MORTON, N. E et al.American journal of human genetics. 1988, Vol 43, Num 3, pp 304-310, issn 0002-9297Article

Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiencyKATSUMATA, Noriyuki; SHINAGAWA, Takashi; HORIKAWA, Reiko et al.Metabolism, clinical and experimental. 2010, Vol 59, Num 11, pp 1628-1632, issn 0026-0495, 5 p.Article

Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia)KARAVITI, L. P; MERCADO, A. B; MERCADO, M. B et al.Journal of steroid biochemistry and molecular biology. 1992, Vol 41, Num 3-8, pp 445-451, issn 0960-0760Conference Paper

A case of first trimester prenatal diagnosis of 21-hydroxylase deficiency with human complement C4 cDNA probeNAKURA, J; MIKI, T; NISHIKAWA, K et al.Endocrinologia japonica. 1990, Vol 37, Num 5, pp 615-618, issn 0013-7219, 4 p.Article

Immunohistochemical demonstration of steroid C-21 hydroxylase in normal and neaoplastic salivary glandsSASANO, H; OHKUBO, T; SASANO, N et al.Cancer. 1988, Vol 61, Num 4, pp 750-753, issn 0008-543XArticle

Further evidence that there is more than one adrenal 21-hydroxylase systemFRANKLIN, S. O; LIEBERMAN, S; GREENFIELD, N. J et al.Journal of steroid biochemistry. 1987, Vol 28, Num 6, pp 749-757, issn 0022-4731Article

Conseil génétique et conduite à tenir avant, pendant et après la grossesse en cas de bloc surrénalien en 21-hydroxylaseTARDY, Véronique; MOREL, Yves.MTE. Médecine thérapeutique endocrinologie. 2004, Vol 6, Num 5-6, pp 281-286, issn 1295-9359, 6 p.Article

HLA family study in a group of Greek women with non-classical 21-hydroxylase deficiencyTERTIPI, A; PAPAGRIGORIOU, L; KALDRIMIDIS, P et al.Hormone and metabolic research. 1993, Vol 25, Num 8, issn 0018-5043, p. 453Article

The hypothalamic-pituitary-adrenal axis in partial (late-onset) 21-hydroxylase deficiencyFEUILLAN, P; PANG, S; SCHÜRMEYER, T et al.The Journal of clinical endocrinology and metabolism. 1988, Vol 67, Num 1, pp 154-160, issn 0021-972XArticle

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion productsHIGASHI, Y; TANAE, A; INOUE, H et al.Proceedings of the National Academy of Sciences of the United States of America. 1988, Vol 85, Num 20, pp 7486-7490, issn 0027-8424Article

A new marker for early diagnosis of 21-hydroxylase deficiency: 3β,16α,17α-trihydroxy-5α-pregnane-7,20-dioneCHRISTAKOUDI, Sofia; COWAN, David A; TAYLOR, Norman F et al.Journal of steroid biochemistry and molecular biology. 2010, Vol 121, Num 3-5, pp 574-581, issn 0960-0760, 8 p.Article

The human complement C4B/steroid 21-hydroxylase (CYP21) and complement C4A/21-hydroxylase pseudogene (CYP21P) intergenic sequences : comparison and identification of possible regulatory elementsDONOHOUE, P. A; COLLINS, M. M.Biochemical and biophysical research communications (Print). 1992, Vol 186, Num 1, pp 256-262, issn 0006-291XArticle

Hiperplasia adrenal congénita secundaria a deficiencia de 21-hidroxilasa = Congenital adrenal hyperplasia secondary to 21-hydroxylase deficiencyRODRIGUEZ-LEON, G. A; BAUTISTA-ROJAS, J. J; DORANTES-ALVAREZ, L. M et al.Boletín Médico del Hospital Infantil de México (Ed. española). 1990, Vol 47, Num 8, pp 562-566, issn 0539-6115, 5 p.Article

Transcriptional pattern of 21-hydroxylase gene (P-450C21) during embryonic development, before, and after birth in mice as determined by in situ hybridizationRASCHELLA, G; SMETS, G; CLAEYS, A et al.The Journal of histochemistry and cytochemistry. 1989, Vol 37, Num 5, pp 751-756, issn 0022-1554, 6 p.Article

Quel est votre diagnostic? = What's diagnosis? A case of 21. Hydroxylase deficiencyBOSQUET, F; LORDEREAU, I.Concours médical (Paris). 1989, Vol 111, Num 13, pp 1109-1111, issn 0010-5309, 3 p.Article

Workshop on screening for congenital adrenal hyperplasia (steroid 21-hydroxylase deficiency)ADDISON, G. M.Journal of inherited metabolic disease. 1986, Vol 9, pp 111-114, issn 0141-8955, Suppl. 1Article

Some characteristics of human adrenal microsomal 21-hydroxylase activityGORDON, M. T; ANDERSON, D. C; MITCHELL, R et al.Journal of steroid biochemistry. 1985, Vol 23, Num 1, pp 67-72, issn 0022-4731Article

Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 3. Characterization, using GC―MS and GC―MS/MS, of androstanes and androstenesCHRISTAKOUDI, Sofia; COWAN, David A; TAYLOR, Norman F et al.Steroids. 2012, Vol 77, Num 13, pp 1487-1501, issn 0039-128X, 15 p.Article

Plasma 21-deoxycortisol : comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunossay using 125iodineFIET, J; BOUDI, A; GITON, F et al.Journal of steroid biochemistry and molecular biology. 2000, Vol 72, Num 1-2, pp 55-60, issn 0960-0760Article

Rapid screening method for detecting mutations in the 21-hydroxylase geneORIOLA, J; PLENSA, I; MACHUCA, I et al.Clinical chemistry (Baltimore, Md.). 1997, Vol 43, Num 4, pp 557-561, issn 0009-9147Article

Molecular diagnosis of 21-hydroxylase deficiency : detection of four mutations on a single gelSIEGEL, S. F; HOFFMAN, E. P; TRUCCO, M et al.Biochemical medicine and metabolic biology. 1994, Vol 51, Num 1, pp 66-73, issn 0885-4505Article

Autoimmune Addison's disease : evidence for a role of steroid 21-hydroxylase autoantibodies in adrenal insufficiencyFURMANIAK, J; KOMINAMI, S; ASAWA, T et al.The Journal of clinical endocrinology and metabolism. 1994, Vol 79, Num 5, pp 1517-1521, issn 0021-972XArticle

Enzyme-linked immunosorbent assay (ELISA) method for screening of non-classical steroid 21-hydroxylase deficiencyUESHIBA, H; ZERAH, M; NEW, M. I et al.Hormone and metabolic research. 1994, Vol 26, Num 1, pp 43-45, issn 0018-5043Conference Paper

Expression of the Addisonian autoantigen in human adrenal tumorsWINQVIST, O; RASTAD, J; TIBELL, A. K et al.Autoimmunity (Print). 1993, Vol 16, Num 3, pp 173-180, issn 0891-6934Article

Hiperplasia suprarrenal congénita de expresión tardía por bloqueo parcial de 21 hidroxilasa en el varón = Hyperplasie surrénale congénitale d'expression tardive par blocage partiel de la 21 hydroxylase chez le mâle = Congenital adrenal hyperplasia of late expression in a male by partial blocking of the 21 hydroxylaseTERAN DAVILA, J; FEBRES BALESTRINI, F.Gaceta medica de Caracas. 1989, Vol 97, Num 4-6, pp 125-131, issn 0367-4762Article

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