(Q37003273)

17 August 2017

1 reference

title

Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (English)

1 reference

17 August 2017

Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (English)

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

congenital adrenal hyperplasia due to 21-hydroxylase deficiency

29 November 2022

main subject

congenital disorder

0 references

0 references

congenital adrenal hyperplasia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1801590

29 November 2022

author name string

Y. Morel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1801590

29 November 2022

W. L. Miller

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1801590

29 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1801590

29 November 2022

publication date

1 January 1991

1 reference

full work available at URL

17 August 2017

http://link.springer.com/content/pdf/10.1007/978-1-4684-5958-6_1

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Advances in human genetics

29 November 2022

published in

1 reference

17 August 2017

20

1 reference

17 August 2017

1-68

1 reference

DNA and RNA analysis of cytochrome P-450 21-hydroxylase: transcriptional activity in congenital adrenal hyperplasia

17 August 2017

1

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Liver mRNA probes disclose two cytochrome P-450 genes duplicated in tandem with the complement C4 loci of the mouse H-2S region

29 November 2022

2

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency

29 November 2022

3

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Gene conversion: some implications for immunoglobulin genes

29 November 2022

5

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Immunochemical studies on electron transport chains involving cytochrome P-450. The role of the iron-sulfur protein, adrenodoxin, in mixed-function oxidation reactions

29 November 2022

6

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The structural basis of the multiple forms of human complement component C4.

29 November 2022

7

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Identification of des-(Gly-Ile)-endozepine as an effector of corticotropin-dependent adrenal steroidogenesis: stimulation of cholesterol delivery is mediated by the peripheral benzodiazepine receptor

29 November 2022

8

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Tissue-specific, cyclic adenosine 3',5'-monophosphate-induced, and phorbol ester-repressed transcription from the human P450c17 promoter in mouse cells

29 November 2022

10

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-beta-hydroxysteroid dehydrogenase deficiency

29 November 2022

13

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B

29 November 2022

14

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

29 November 2022

15

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Extraadrenal formation of a mineralocorticosteroid: deoxycorticosterone and deoxycorticosterone sulfate biosynthesis and metabolism

29 November 2022

17

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Conversion of progesterone to deoxycorticosterone in the human fetus: steroid 21-hydroxylase activity in fetal tissues

29 November 2022

18

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Cloning and structure of the human adrenodoxin gene

29 November 2022

20

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Structure, sequence, chromosomal location, and evolution of the human ferredoxin gene family

29 November 2022

21

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Nucleotide sequence analysis of murine 21-hydroxylase genes: mutations affecting gene expression

29 November 2022

22

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The Incidence of Late-Onset Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency among Hirsute Women*

29 November 2022

23

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease

29 November 2022

25

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)

29 November 2022

26

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Cloning and characterization of the bovine gene for steroid 21-hydroxylase (P-450c21).

29 November 2022

27

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Structure of a bovine gene for P-450c21 (steroid 21-hydroxylase) defines a novel cytochrome P-450 gene family

29 November 2022

28

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta

29 November 2022

29

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues

29 November 2022

30

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Proceedings of the National Academy of Sciences of the United States of America

29 November 2022

32

260

4733

OM Conneely

1984

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

A study of HLA-A, B, DR and Bf bearing haplotypes derived from 304 families resident in the north west of England

29 November 2022

33

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Hormonal regulation of messenger ribonucleic acids for P450scc (cholesterol side-chain cleavage enzyme) and P450c17 (17 alpha-hydroxylase/17,20-lyase) in cultured human fetal adrenal cells

29 November 2022

35

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein

29 November 2022

36

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B

29 November 2022

37

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism

29 November 2022

38

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

An update on the frequency of nonclassic deficiency of adrenal 21-hydroxylase in the Yugoslav population

29 November 2022

39

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis

29 November 2022

40

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Direct observation of the gene organization of the complement C4 and 21-hydroxylase loci by pulsed field gel electrophoresis

29 November 2022

41

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).

29 November 2022

42

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The enzyme activity of bovine adrenocortical cytochrome P-450 producing pregnenolone from cholesterol: kinetic and electrophoretic studies on the reactivity of hydroxycholesterol intermediates

29 November 2022

45

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Intergenic conversion and reiterated genes

29 November 2022

46

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Detection of ras point mutations by polymerase chain reaction using mutation-specific, inosine-containing oligonucleotide primers

29 November 2022

47

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia

29 November 2022

48

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Initiation of recombination

29 November 2022

49

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: comparison with HLA typing in 17 pregnancies at risk for CAH

29 November 2022

51

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study

29 November 2022

52

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Elevated amniotic fluid concentration of 17 α-hydroxyprogesterone in congenital adrenal hyperplasia

29 November 2022

53

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes

29 November 2022

54

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The swine steroid 21-hydroxylase gene (CYP21): cloning and mapping within the swine leucocyte antigen complex

29 November 2022

55

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The study of a French family with two duplicated C4A haplotypes

29 November 2022

56

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Nonsense mutation causing steroid 21-hydroxylase deficiency

29 November 2022

58

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Male Pseudohermaphroditism Consistent with 17,20-Desmolase Deficiency

29 November 2022

60

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

8-Bromoadenosine cyclic 3',5'-phosphate rapidly increases 3-hydroxy-3-methylglutaryl coenzyme A reductase mRNA in human granulosa cells: role of cellular sterol balance in controlling the response to tropic stimulation

29 November 2022

61

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Detection of heterozygous carriers for 21-hydroxylase deficiency by plasma 21-deoxycortisol measurement

29 November 2022

64

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

21-hydroxylase deficiency: disease-causing mutations categorized by densitometry of 21-hydroxylase-specific deoxyribonucleic acid fragments

29 November 2022

66

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

29 November 2022

68

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years.

29 November 2022

69

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

29 November 2022

71

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

29 November 2022

73

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency

29 November 2022

74

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Genetic differences between the salt-wasting, simple virilizing, and nonclassical types of congenital adrenal hyperplasia

29 November 2022

75

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The organization, expression, and evolution of antibody genes and other multigene families

29 November 2022

76

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Expression of human 21-hydroxylase (P450c21) in bacterial and mammalian cells: a system to characterize normal and mutant enzymes

29 November 2022

77

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis

29 November 2022

78

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Gene conversion between duplicated genetic elements in yeast

29 November 2022

79

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Control of steroid synthesis in adrenal fasciculata cells

29 November 2022

80

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia.

29 November 2022

81

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Heterogeneity and linkage of equine C4 and steroid 21-hydroxylase genes

29 November 2022

82

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

ACTH stimulation on cholesterol side chain cleavage activity of adrenocortical mitochondria. Transfer of the stimulus from plasma membrane to mitochondria

29 November 2022

83

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Late-Onset Steroid 21-Hydroxylase Deficiency: A Variant of Classical Congenital Adrenal Hyperplasia*

29 November 2022

85

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies

29 November 2022

88

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.

29 November 2022

91

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency

29 November 2022

92

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

A Previously Undetected MHC Gene with an Unusual Periodic Structure

29 November 2022

93

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The rat 78,000 dalton glucose-regulated protein (GRP78) as a precursor for the rat steroidogenesis-activator polypeptide (SAP): the SAP coding sequence is homologous with the terminal end of GRP78.

29 November 2022

94

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin.

29 November 2022

95

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Cloning and sequence of the human adrenodoxin reductase gene

29 November 2022

96

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Human 3 beta-hydroxysteroid dehydrogenase/delta 5----4isomerase from placenta: expression in nonsteroidogenic cells of a protein that catalyzes the dehydrogenation/isomerization of C21 and C19 steroids

29 November 2022

99

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase

29 November 2022

100

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase deficiency

29 November 2022

102

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes

29 November 2022

103

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Assignment of the gene for adrenal P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase) to human chromosome 10.

29 November 2022

104

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia

29 November 2022

105

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Restriction fragment analysis of duplication of the fourth component of complement (C4A).

29 November 2022

106

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Characterization of two hybrid C4 allotypes (C4A*12andC4B*3) by electrophoretic, serological and restriction fragment length polymorphism analyses

29 November 2022

107

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Extraadrenal steroid 21-hydroxylation is not mediated by P450c21

29 November 2022

108

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Comments about the need for prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

29 November 2022

109

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The Attenuated Form of Congenital Adrenal Hyperplasia as an Allelic Form of 21-Hydroxylase Deficiency*

29 November 2022

110

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Molecular biology of steroid hormone synthesis

29 November 2022

111

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Structure and evolution of the growth hormone gene family

29 November 2022

113

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Molecular and clinical advances in congenital adrenal hyperplasia

29 November 2022

114

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The molecular genetics of 21-hydroxylase deficiency

29 November 2022

115

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Signals for the incorporation and orientation of cytochrome P450 in the endoplasmic reticulum membrane

29 November 2022

116

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The role of transcriptional regulation in steroid hormone biosynthesis

29 November 2022

117

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Human P450scc gene transcription is induced by cyclic AMP and repressed by 12-O-tetradecanoylphorbol-13-acetate and A23187 through independent cis elements

29 November 2022

118

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia

29 November 2022

120

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types

29 November 2022

121

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus

29 November 2022

122

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination

29 November 2022

125

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency

29 November 2022

126

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Gene structure of human cytochrome P-450(SCC), cholesterol desmolase

29 November 2022

129

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

29 November 2022

130

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Microsomal cytochrome P-450 from neonatal pig testis: two enzymatic activities (17 alpha-hydroxylase and c17,20-lyase) associated with one protein

29 November 2022

131

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

P450 genes: structure, evolution, and regulation

29 November 2022

132

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The P450 gene superfamily: recommended nomenclature.

29 November 2022

133

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The P450 superfamily: updated listing of all genes and recommended nomenclature for the chromosomal loci

29 November 2022

134

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The P450 superfamily: update on new sequences, gene mapping, and recommended nomenclature

29 November 2022

135

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Cytochrome b5 stimulates purified testicular microsomal cytochrome P-450 (C21 side-chain cleavage)

29 November 2022

143

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification

29 November 2022

145

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Gene organization of haplotypes expressing two different C4A allotypes

29 November 2022

146

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

29 November 2022

147

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Amniotic fluid concentrations of delta 5 and delta 4 steroids in fetuses with congenital adrenal hyperplasia due to 21 hydroxylase deficiency and in anencephalic fetuses

29 November 2022

148

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia

29 November 2022

149

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

29 November 2022

151

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Expression of murine 21-hydroxylase in mouse adrenal glands and in transfected Y1 adrenocortical tumor cells

29 November 2022

152

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis

29 November 2022

153

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Cholesterol side-chain cleavage in the rat adrenal cortex: isolation of a cycloheximide-sensitive activator peptide

29 November 2022

155

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Steroidogenesis-activator polypeptide isolated from a rat Leydig cell tumor

29 November 2022

156

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21

29 November 2022

158

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Homologous sequences in steroidogenic enzymes, steroid receptors and a steroid binding protein suggest a consensus steroid-binding sequence

29 November 2022

159

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing

29 November 2022

161

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Regulation of intramitochondrial cholesterol transfer to side-chain cleavage cytochrome P-450 in rat adrenal gland

29 November 2022

163

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Genetic Recombination: Strand Transfer and Mismatch Repair

29 November 2022

165

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia

29 November 2022

169

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia

29 November 2022

170

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Abnormal sex differentiation

29 November 2022

171

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Expression of bovine cytochrome P450c17 cDNA in Saccharomyces cerevisiae.

29 November 2022

172

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Identification of multiple HTF-island associated genes in the human major histocompatibility complex class III region

29 November 2022

173

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Bgl II restriction fragment length polymorphism of human complement C4A gene coincides with BF*F allele of factor B

29 November 2022

175

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants

29 November 2022

176

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Effect of ACTH on cholesterol dynamics in rat adrenal tissue.

29 November 2022

178

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Cholesterol side-chain cleavage, cytochrome P450, and the control of steroidogenesis

29 November 2022

179

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.

29 November 2022

180

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

29 November 2022

181

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Evidence for dissociation between adrenarche and gonadarche: studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence

29 November 2022

182

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Synteny mapping of the genes for 21 steroid hydroxylase, alpha A crystallin, and class I bovine leukocyte antigen in cattle

29 November 2022

183

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.

29 November 2022

184

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues

29 November 2022

185

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Molecular characterization of a Leydig cell tumor presenting as congenital adrenal hyperplasia

29 November 2022

186

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25

29 November 2022

187

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Structure of the human RD gene: a highly conserved gene in the class III region of the major histocompatibility complex

29 November 2022

188

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1

29 November 2022

190

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).

29 November 2022

191

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase

29 November 2022

192

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

A new cluster of genes within the human major histocompatibility complex

29 November 2022

193

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?

29 November 2022

195

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Molecular pathology of congenital adrenal hyperplasia

29 November 2022

196

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Prenatal diagnosis of congenital adrenal hyperplasia

29 November 2022

197

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The double-strand-break repair model for recombination

29 November 2022

199

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and steroid 5----4-ene-isomerase: purification from mitochondria and kinetic profiles, biophysical characterization of the purified mitochondrial and microsomal enzymes

29 November 2022

201

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Human gene encoding the 78,000-dalton glucose-regulated protein and its pseudogene: structure, conservation, and regulation

29 November 2022

202

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Extensive deletions and insertions in different MHC supratypes detected by pusled field gel electrophoresis

29 November 2022

203

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Effect of hypophysectomy and corticotropin replacement on sterol ester hydrolase activity from rat adrenal gland

29 November 2022

205

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Developmental expression of genes for the stereoidogenic enzymes P450scc (20,22-desmolase), P450c17 (17 alpha-hydroxylase/17,20-lyase), and P450c21 (21-hydroxylase) in the human fetus.

29 November 2022

208

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Coordinate tropic hormone regulation of mRNAs for insulin-like growth factor II and the cholesterol side-chain-cleavage enzyme, P450scc [corrected], in human steroidogenic tissues

29 November 2022

209

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Hormonal regulation of P450scc (20,22-desmolase) and P450c17 (17 alpha-hydroxylase/17,20-lyase) in cultured human granulosa cells

29 November 2022

210

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation

29 November 2022

212

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

29 November 2022

213

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Structure of human steroid 21-hydroxylase genes

29 November 2022

214

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

29 November 2022

215

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively

29 November 2022

216

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Expression and functional study of wild-type and mutant human cytochrome P450c21 in Saccharomyces cerevisiae

29 November 2022

217

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

The Regulation of Intracellular Transport of Cholesterol in Bovine Adrenal Cells: Purification of a Novel Protein

29 November 2022

221

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinants: application to the study of C4 null alleles

29 November 2022

222

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity.

29 November 2022

223

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism

29 November 2022

224

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Expression of bovine 17 alpha-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells

29 November 2022

225

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

29 November 2022

Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1801590

29 November 2022

1 reference