P450c17 Deficiency in Brazilian Patients: Biochemical Diagnosis through Progesterone Levels Confirmed by CYP17 Genotyping

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

P450 superfamily: update on new sequences, gene mapping, accession numbers and nomenclature

1996 • 2,895 citations

Cytochromes P450: a success story.

2000 • 863 citations

17-hydroxylation deficiency in man.

1966 • 562 citations

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.

1987 • 449 citations

Cloning and Sequence of the Human Gene for P450cl7 (Steroid 17α-Hydroxylase/17,20 Lyase): Similarity with the Gene for P450c21

1987 • 415 citations

17α-Hydroxylase/17,20-Lyase Deficiency: From Clinical Investigation to Molecular Definition*

1991 • 387 citations

The genetic and functional basis of isolated 17,20–lyase deficiency

1997 • 316 citations

Microsomal cytochrome P-450 from neonatal pig testis: two enzymic activities (17.alpha.-hydroxalase and C17,20 associated with one protein

1981 • 291 citations

RADIOIMMUNOASSAY OF STEROIDS IN BIOLOGICAL MATERIALS

1974 • 263 citations

THE GENETICS, PATHOPHYSIOLOGX, AND MANAGEMENT OF HUMAN DEFICIENCIES OF P450c17

2001 • 248 citations

The regulation of 17,20 lyase activity

1997 • 236 citations

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

1970 • 210 citations

Molecular Modeling of Human P450c17 (17α-Hydroxylase/ 17,20-Lyase): Insights into Reaction Mechanisms and Effects of Mutations

1999 • 183 citations

ASSIGNMENT OF THE GENE FOR ADRENAL P450cl7 (STEROID 17α-HYDR0XYLASE⁄17,20 LYASE) TO HUMAN CHROMOSOME 10.

1986 • 167 citations

Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency.

1993 • 154 citations

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

1991 • 153 citations

Diagnostic Value of Fluorometric Assays in the Evaluation of Precocious Puberty*

1999 • 148 citations

Disorders of steroid 17 alpha-hydroxylase deficiency.

1994 • 144 citations

Disorders of Steroid 17α-Hydroxylase Deficiency

1994 • 139 citations

Missense mutation serine106—-proline causes 17 alpha-hydroxylase deficiency

1991 • 137 citations

Differential Inhibition of 17α-Hydroxylase and 17,20-Lyase Activities by Three Novel Missense CYP17 Mutations Identified in Patients with P450c17 Deficiency

2002 • 120 citations

17α-Hydroxylase/17,20-lyase defects

1995 • 103 citations

Localization of the human CYP17 gene (cytochrome P45017α) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding

1992 • 98 citations

Deletion of a phenylalanine in the N-terminal region of human cytochrome P-45017α results in partial combined 17α-hydroxylase/17,20-lyase deficiency

1989 • 97 citations

Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17?-hydroxylase deficiency

1992 • 83 citations

Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.

1996 • 81 citations

Diagnostic Value of Fluorometric Assays in the Evaluation of Precocious Puberty

1999 • 81 citations

Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.

1993 • 73 citations

Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

1993 • 72 citations

Mutation of Proline 409 to Arginine in the Meander Region of Cytochrome P450c17 Causes Severe 17α-Hydroxylase Deficiency

2001 • 63 citations

Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

1994 • 62 citations

17α-Hydroxylase/17,20-Lyase Deficiency as a Model to Study Enzymatic Activity Regulation: Role of Phosphorylation*

2000 • 56 citations

Male pseudohermaphroditism due to nonsalt-losing 3β-hydroxysteroid dehydrogenase deficiency: Gender role change and absence of gynecomastia at puberty

1987 • 56 citations

Combined 17α-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17α-hydroxylase cytochrome P-450

1988 • 55 citations

Male Pseudohermaphroditism Due to 17a -Hydroxylase Deficiency

1970 • 54 citations

Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.

1996 • 51 citations

Identification of a common molecular basis for combined 17?-hydroxylase/17,20-lyase deficiency in two Mennonite families

1989 • 49 citations

Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496) → Cys, Gln(461) → Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency

1992 • 48 citations

Combined 17α-Hydroxylase/17,20-Lyase Deficiency due to a 7-Basepair Duplication in the N-Terminal Region of the Cytochrome P450_17α(CYP17) Gene*

1990 • 48 citations

Diagnosis and Natural History of 17-Hydroxylase Deficiency in a Newborn Male*

1984 • 44 citations

Combined 17α-Hydroxylase/17,20-Lyase Deficiency Caused by Phe93Cys Mutation in the CYP17 Gene

2002 • 39 citations

Deletion within theCYP17 Gene Together with Insertion of Foreign DNA Is the Cause of Combined Complete 17α-Hydroxylase/17,20-Lyase Deficiency in an Italian Patient

1991 • 39 citations

A complex heterozygous mutation of His373Leu and Asp487–Ser488–Phe489 deletion in human cytochrome P450c17 causes 17α-hydroxylase/17,20-lyase deficiency in three Chinese sisters

2003 • 37 citations

New Compound Heterozygous Mutation in the <i>CYP17</i> Gene in a 46,XY Girl with 17α-Hydroxylase/17,20-Lyase Deficiency

2001 • 35 citations

A 5′-Splice Site Mutation in the Cytochrome P450 Steroid 17α-Hydroxylase Gene in 17α-Hydroxylase Deficiency

1997 • 32 citations

Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene.

1995 • 32 citations

Identification of a novel splicing mutation and 1-bp deletion in the 17α-hydroxylase gene of Japanese patients with 17α-hydroxylase deficiency

1998 • 31 citations

A New Compound Heterozygous Mutation (W17X, 436+5G→T) in the Cytochrome P450c17 Gene Causes 17α-Hydroxylase/17,20-Lyase Deficiency

1998 • 30 citations

Genetic analysis of the cytochrome P‐450c17α (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17α‐hydroxylase deficiency

2001 • 29 citations

Induction of endometrial cycles and ovulation in a woman with combined 17α-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the P45017α gene

2000 • 28 citations

Combined 17α‐hydroxylase/17,20‐lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17α‐hydroxylase gene

1993 • 24 citations

17-α-hydroxylase deficiency in three siblings: short- and long-term studies

1991 • 19 citations

Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA association

1988 • 18 citations

A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 α‐hydroxylase deficiency

1997 • 16 citations

Molecular basis of hypokalemic myopathy caused by 17α-hydroxylase/17,20-lyase deficiency

1998 • 15 citations

Defects in steroidogenic enzymes. Discrepancies between clinical steroid research and molecular biology results

1995 • 14 citations

Probing Structural and Functional Domains of Human P450c17

2000 • 14 citations

Prismatic cases: 17,20-desmolase (17,20-lyase) deficiency.

1996 • 7 citations

Seventeen α-Hydroxylase Deficiency with One Base Pair Deletion of the Cytochrome P450c17 (CYP17) Gene

1996 • 6 citations

Prismatic cases: 17,20-desmolase (17,20-lyase) deficiency

1996 • 3 citations