Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Endocrine Reviews

Volumn 21, Issue 3, 2000, Pages 245-291

  White, Perrin C ^a   Speiser, Phyllis W ^b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b NORTH SHORE UNIVERSITY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; GLUCOCORTICOID; MINERALOCORTICOID; STEROID 21 MONOOXYGENASE;

CONGENITAL ADRENAL HYPERPLASIA; CORRELATION FUNCTION; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENETIC CODE; GENETIC RECOMBINATION; GONADAL DISEASE; HORMONAL THERAPY; HUMAN; MALE; MEIOSIS; NEWBORN; NEWBORN SCREENING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSEUDOGENE; REVIEW; SALT LOSING NEPHRITIS; SEX DIFFERENCE; SODIUM BALANCE; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS;

ADRENAL CORTEX HORMONES; ADRENAL GLANDS; ADRENAL HYPERPLASIA, CONGENITAL; AMINO ACID SEQUENCE; BASE SEQUENCE; FEMALE; GENOTYPE; GLUCOCORTICOIDS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEX DIFFERENTIATION DISORDERS; STEROID 21-HYDROXYLASE; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 0034454269     PISSN: 0163769X     EISSN: None     Source Type: Journal    
DOI: 10.1210/er.21.3.245     Document Type: Review

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255. Adult height in women with early-treated congenital adrenal hyperplasia (21-hydroxylase type): Relation to body mass index in earlier childhood
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257. Bone mineral density and body composition in congenital adrenal hyperplasia
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266. Should we monitor more closely the dosage of 9α-fluorohydrocortisone in salt-losing congenital adrenal hyperplasia?
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273. The use of adrenalectomy as a treatment for congenital adrenal hyperplasia
274. DHEA and the intracrine formation of androgens and estrogens in peripheral target tissues: Its role during aging
275. Dehydroepiandrosterone replacement in women with adrenal insufficiency
276. Prophylactic adrenalectomy of a three-year-old girl with congenital adrenal hyperplasia: Pre- and postoperative studies
277. Congenital adrenal hyperplasia: Molecular genetics and alternative approaches to treatment
278. Survival of steroid 21-hydroxylase-deficient mice without endogenous corticosteroids after neonatal treatment and genetic rescue by transgenesis as a model system for treatment of congenital adrenal hyperplasia in humans
279. Management of intersex: A shifting paradigm
280. A surgeon's response to the intersex controversy
281. Sex reassignment at birth. Long-term review and clinical implications
282. Intersexuality: What should care providers do now
283. Pediatric ethics and the surgical assignment of sex
284. Single-stage feminization genitoplasty
285. Functional results in young women having clitoral reconstruction as infants
286. Repair of the high vagina in girls with severely masculinized anatomy from the adrenogenital syndrome
287. Management of ambiguous genitalia in pseudohermaphrodites: New perspectives on vaginal dilation
288. Vaginal reconstruction after initial construction of the external genitalia in girls with salt-wasting adrenal hyperplasia
289. Feminizing genitoplasty for congenital adrenal hyperplasia: What happens at puberty?
290. A new 1-stage procedure for clitorovaginoplasty in severely masculinized female pseudohermaphrodites
291. Early one-stage surgical reconstruction of the extremely high vagina in patients with congenital adrenal hyperplasia
292. A proposed classification of vaginal anomalies and their surgical correction
293. Labial skin-flap vaginoplasty using tissue expanders
294. Anterior sagittal transanorectal approach to the urogenital sinus in adrenogenital syndrome: Preliminary report
295. Congenital adrenal hyperplasia: Long-term results following vaginal reconstruction
296. Longer tem outcome in females with congenital adrenal hyperplasia (CAH): The Cardiff experience
297. Inflammatory bowel disease in children and adolescents: Mental health and family functioning
298. Transient central precocious puberty in non-classic 21-hydroxylase deficiency
299. True precocious puberty complicating congenital adrenal hyperplasia: Treatment with a luteinizing hormone-releasing hormone analog
300. Congenital adrenal hyperplasia complicated by central precocious puberty: Linear growth during infancy and treatment with gonadotropinreleasing hormone analog
301. Adult height in 24 patients treated for growth hormone deficiency and early puberty
302. Final height after combined growth hormone and gonadotrophin-releasing hormone analogue therapy in short healthy children entering into normally timed puberty
303. Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency
304. Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia
305. First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency)
306. Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency
307. Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Update 88 of the French multicentric study
308. Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21-hydroxylase deficiency
309. Prenatal dexamethasone treatment in pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Effect on midgestational amniotic fluid steroid levels
310. Prenatal treatment of congenital adrenal hyperplasia
311. Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia
312. Editorial: Comments about the need for prenatal treatment of congenital adrenal hyperplasia due to 21 hydroxylase deficiency
313. Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
314. The influence of prenatal dexamethasone treatment on urinary excretion of adrenocortical steroids in newborns
315. Study of a kindred with classic congenital adrenal hyperplasia: Diagnostic challenge due to phenotypic variance
316. Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis
317. Prenatal diagnosis and treatment of 21-hydroxylase deficiency
318. Prenatal diagnosis and treatment of adrenogenital syndrome. Prevent virilization of female fetuses
319. Chorionic villus sampling safety. Report of World Health Organization/EURO meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Diseases
320. The steroid hormonal milieu of the undisturbed human fetus and mother at 16-20 weeks gestation
321. Prenatal diagnosis and treatment of congenital adrenal hyperplasia
322. Hydrometrocolpos following prenatal dexamethasone treatment for congenital adrenal hyperplasia (21-hydroxylase deficiency)
323. Neonatal mortality risk in relation to birth weight and gestational age: Update
324. Human foetal palatal corticoid receptors and teratogens for cleft palate
325. Glucocorticoid exposure in utero: New model for adult hypertension
326. Glucocorticoid administration alters nuclear transcription factors in fetal rat brain: Implications for the use of antenatal steroids
327. Effects of early prenatal dexamethasone on the cognitive and behavioral development of young children: Results of a pilot study
328. How safe is longterm prenatal glucocorticoid treatment?
329. Prenatal treatment of congenital adrenal hyperplasia: A commentary
330. Prenatal treatment of congenital adrenal hyperplasia: A promising experimental therapy of unproven safety
331. Maternal side effects of prenatal dexamethasone therapy for fetal congenital adrenal hyperplasia
332. Mothers' reactions to prenatal diagnostic procedures and dexamethasone treatment of congenital adrenal hyperplasia
333. Prenatal diagnosis and treatment of 11β-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia
334. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
335. Studies on the steroid hydroxylation system in adrenal cortex microsomes. Purification and characterization of cytochrome P-450 specific for steroid C-21 hydroxylation
336. Interaction between cytochrome P-450 (P-450C21) and NADPH-cytochrome P-450 reductase from adrenocortical microsomes in a reconstituted system
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348. Membrane topology of the mammalian P450 cytochromes
349. Modeling of mammalian P450 s on basis of P450cam X-ray structure
350. Crystal structure and refinement of cytochrome P450terp at 2.3 A resolution
351. Structure of cytochrome P450eryF involved in erythromycin biosynthesis
352. Coding nucleotide 5′ regulatory and deduced amino acid sequences of P-450BM-3, a single peptide cytochrome P-450: NADPH-P-450 reductase from Bacillus megaterium
353. Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's
354. Molecular modelling of steroidogenic cytochromes P450 from families CYP11, CYP17, CYP19 and CYP21 based on the CYP102 crystal structure
355. A three-dimensional model of aromatase cytochrome P450
356. Molecular modeling of human P450c17 (17α-hydroxylase/17, 20-lyase): Insights into reaction mechanisms and effects of mutations
357. Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Va1281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively
358. Crystal structure of the cytochrome P-450CAM active site mutant Thr252Ala
359. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8
360. Metabolic reactions: Mechanisms of substrate oxygenation
361. Genetics of steroid 21-hydroxylase deficiency
362. Homologous sequences in steroidogenic enzymes, steroid receptors and a steroid binding protein suggest a consensus steroid-binding sequence
363. Identification by site-directed mutagenesis of two lysine residues in cholesterol side chain cleavage cytochrome P450 that are essential for adrenodoxin binding
364. P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5
365. A missense mutation at Ile172 - Asn or Arg356 - Trp causes steroid 21-hydroxylase deficiency
366. A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
367. Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: Identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease
368. Probing the role of lysines and arginines in the catalytic function of cytochrome P450d by site-directed mutagenesis. Interaction with NADPH-cytochrome P450 reductase
369. Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man
370. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man
371. Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication
372. Characterisation of the novel gene G11 lying adjacent to the complement C4A gene in the human major histocompatibility complex
373. Tenascin-X: A novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B
374. Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X
375. Abundant adrenal-specific transcription of the human P450c21A "pseudogene"
376. Difference in transcriptional activity of two homologous CYP21A genes
377. CYP21 pseudogene transcripts are much less abundant than those from the active gene in normal human adrenocortical cells under various conditions in culture
378. Alternate promoters and alternate splicing of human tenascin-X, a gene with 5′ and 3′ ends buried in other genes
379. Bovine steroid 21-hydroxylase: Regulation of biosynthesis
380. Transcriptional regulation of steroid hydroxylase genes by corticotropin
381. An enhancer element and a functional cyclic AMP-dependent protein kinase are required for expression of adrenocortical 21-hydroxylase
382. Protein kinase A, protein kinase C, and Ca(2+)-regulated expression of 21-hydroxylase cytochrome P450 in H295R human adrenocortical cells
383. Constitutive human steroid 21-hydroxylase promoter gene and pseudogene activity in steroidogenic and nonsteroidogenic cells with the luciferase gene as a reporter
384. The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction
385. cAMP-dependent transcription of the human CYP21B (P-450C21) gene requires a cis-regulatory element distinct from the consensus cAMP-regulatory element
386. Evidence that an adrenal-specific nuclear protein regulates the cAMP responsiveness of the human CYP21B (P450C21) gene
387. Purification and characterization of a transcription factor which appears to regulate cAMP responsiveness of the human CYP21B gene
388. A novel tumor necrosis factor-responsive transcription factor which recognizes a regulatory element in hemopoetic growth factor genes
389. Multiple regulatory elements determine adrenocortical expression of steroid 21-hydroxylase
390. The orphan nuclear receptor NGFI-B regulates expression of the gene encoding steroid 21-hydroxylase
391. Adrenocorticotropic hormone regulates the activities of the orphan nuclear receptor Nur77 through modulation of phosphorylation
392. An element regulating adrenal-specific steroid 21-hydroxylase expression is located within the slp gene
393. A dominant control region from the human β-globin locus conferring integration site-independent gene expression
394. Variegated expression of a mouse steroid 21-hydroxylase/βgalactosidase transgene suggests centripetal migration of adrenocortical cells
395. A promoter within intron 35 of the human C4A gene initiates abundant adrenal-specific transcription of a 1 kb RNA: Location of a cryptic CYP21 promoter element?
396. Mechanism and consequences of the duplication of the human C4/P450c21/gene × locus
397. Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency)
398. Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group
399. Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing
400. Complement C4 allotypes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Further evidence for different allelic variants at the 21-hydroxylase locus
401. Extended MHC haplotypes in 21-hydroxylase-deficiency congenital adrenal hyperplasia: Shared genotypes in unrelated patients
402. The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: Identical class I antigens and class II alleles with at least two crossover sites in the class III region
403. Late onset 21-hydroxylase deficiency and HLA in the Ashkenazi population: A new allele at the 21-hydroxylase locus
404. HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency
405. Frequent deletion and duplication of the steroid 21-hydroxylase genes
406. Rearrangement of 21-hydroxylase genes in disease-associated MHC supra-types
407. Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region
408. Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis
409. Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes
410. Characterization of frequent deletions causing steroid 21- hydroxylase deficiency
411. Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein
412. Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital hyperplasia
413. Evidence for frequent gene conversion in the steroid 21- hydroxylase P-450(C21) gene: Implications for steroid 21- hydroxylase deficiency
414. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: Possible gene conversion products
415. Mutation in the CYP21B gene (Ile-172 - Asn) causes steroid 21-hydroxylase deficiency
416. Nonsense mutation causing steroid 21-hydroxylase deficiency
417. Gene conversion in steroid 21-hydroxylase genes
418. Effects of individual mutations in the P-450(C21) pseudogene on the P450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency
419. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency
420. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestations
421. Analysis of steroid 21-hydroxylase gene mutations in the Spanish population
422. Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency
423. Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles
424. Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): Implications for diagnosis, prognosis and treatment
425. Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms
426. Congenital adrenal hyperplasia. Molecular characterization
427. Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: Identification of possible new mutations and high prevalence of apparent germ-line mutations
428. Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia
429. Salt-wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population
430. 21-Hydroxylase deficiency in Italy: A distinct distribution pattern of CYP21 mutations in a sample from southern Italy
431. Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
432. Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia
433. Functional analysis of mutant P450(C21) genes in COS cell expression system
434. The common 1172N mutation causes conformational change of cytochrome P450c21 revealed by systematic mutation, kinetic, and structural studies
435. Function and membrane topology of wild-type and mutated cytochrome P-450c21
436. Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency
437. Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability
438. A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele
439. R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions
440. Expression and functional study of wild-type and mutant human cytochrome P450c21 in Saccharomyces cerevisiae
441. Expression of human 21-hydroxylase (P450c21) in bacterial and mammalian cells: A system to characterize normal and mutant enzymes
442. Expression of the mdr1 P-glycoprotein gene: A mechanism of escape from glucocorticoid-induced apoptosis
443. Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population
444. Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency
445. Two distinct areas of unequal crossingover within the steroid 21- hydroxylase genes produce absence of CYP21B
446. Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations
447. Polymorphism of the human complement C4 and steroid 21-hydroxylase genes
448. Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes
449. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
450. Restriction maps and restriction fragment length polymorphisms of the human 21-hydroxylase genes
451. Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency
452. Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia
453. Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia
454. P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia
455. Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia
456. Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency
457. 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
458. 21-hydroxylase deficiency: Disease-causing mutations categorized by densitometry Of 21-hydroxylase-specific deoxyribonucleic acid fragments
459. Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency
460. Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A study of 27 families
461. High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia
462. Direct observation of the gene organization of the complement C4 and 21-hydroxylase loci by pulsed field gel electrophoresis
463. Differences in gene copy number carried by different MHC ancestral haplotypes. Quantitation after physical separation of haplotypes by pulsed field gel electrophoresis
464. Visual demonstration of the organization of the human complement C4 and 21-hydroxylase genes by high-resolution fluorescence in situ hybridization
465. Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia
466. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees
467. Prenatal diagnosis of steroid 21-hydroxylase deficiency by the modified polymerase chain reaction to detect splice site mutation in the CYP21 gene
468. The N-terminal hydrophobic domain of P450c21 is required for membrane insertion and enzyme stability
469. Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21)
470. Malfolded cytochrome P-450(M1) localized in unusual membrane structures of the endoplasmic reticulum in cultured animal cells
471. Signals for the incorporation and orientation of cytochrome P450 in the endoplasmic reticulum membrane
472. Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency
473. Steroid 21-hydroxylase deficiency: Three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations
474. An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia
475. Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia
476. Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency
477. Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia
478. Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese
479. E380D: A novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency
480. Steroid 21-hydroxylase deficiency: Two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
481. A novel missense mutation, GLY524SER, in Brazilian patients with 21-hydroxylase deficiency
482. Steroid 21-hydroxylase (P450c21): A new allele and spread of mutations through the pseudogene
483. A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family
484. A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online
485. Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations in brief no. 218. Online
486. Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations
487. Exon 7 Ncol restriction site within CYP21B (steroid 21- hydroxylase) is a normal polymorphism
488. Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency
489. Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in a proband during subsequent prenatal diagnosis by HLA typing and DNA analysis
490. A de novo pathological point mutation at the 21-hydroxylase locus: Implications for gene conversion in the human genome
491. Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms
492. BCL2 oncogene translocation is mediated by a chi-like consensus
493. Characterization of single-nucleotide polymorphisms in coding regions of human genes
494. Single-nucleotide polymorphisms in intron 2 of CYP21P: Evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia
495. Profiling steroid hormones in amniotic fluid of midpregnancy by routine stable isotope dilution/gas chromatography-mass spectrometry: Reference values and concentrations in fetuses at risk for 21-hydroxylase deficiency
496. Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia
497. The use of gamma interferon to increase HLA antigen expression on cultured amniotic cells used for the prenatal diagnosis of 21- hydroxylase deficiency
498. Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia
499. Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C- 21OH
500. Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone de-termination and DNA probes
501. Prenatal diagnosis of 21-hydroxylase deficiency by RFLP analysis of the 21-hydroxylase, complement C4, and HLA class II genes
502. Direct analysis of CYP21B genes in 21 hydroxylase deficiency using polymerase chain reaction amplification
503. Salt-wasting congenital adrenal hyperplasia: Detection and characterization of mutations in the steroid 21-hydroxylase gene. CYP21, using the polymerase chain reaction
504. Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction
505. Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
506. Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene
507. Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot
508. Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency
509. Correlation between genetic lesions of the CYP21B gene and the clinical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Report of a large study of 355 CAH chromosomes
510. Structure and expression of the CYP21 (P450c21, steroid 21-hydroxylase) gene with respect to its deficiency
511. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia
512. Rapid screening method for detecting mutations in the 21-hydroxylase gene
513. Conventional molecular diagnosis of steroid 21-hydroxylase deficiency using mismatched primers and polymerase chain reaction
514. Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia
515. Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism
516. Molecular diagnosis of 21-hydroxylase deficiency: Detection of four mutations on a single gel
517. Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene
518. Prenatal diagnosis of steroid 21-hydroxylase deficiency by analysis of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) profiles
519. Rapid identification of deoxyribonucleic acid sequence differences in cytochrome P-450 21-hydroxylase (CYP21) genes with denaturing gradient gel blots
520. Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21
521. Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene
522. Rapid detection of 21-hydroxylase deficiency mutations by allele-specific in vitro amplification and capillary zone electrophoresis
523. Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction
524. Resequencing and mutational analysis using oligonucleotide microarrays
525. Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing
526. Microsatellite markers in the indirect analysis of the steroid 21-hydroxylase gene
527. Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: Good correlation in a well defined population
528. Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid 21-hydroxylase
529. Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
530. Non-expression of a common mutation in the 21-hydroxylase gene: Implications for prenatal diagnosis and carrier testing
531. Characterization of mutations on the rare duplicated C4/CYP21 haplotype
532. High frequencies of human genetic diseases: Founder effect with genetic drift or selection?
533. Strong balancing selection at HLA loci: Evidence from segregation in South Amerindian families
534. HLA and HIV-1: Heterozygote advantage and B*35-Cw*04 disadvantage
535. Extended HLA/complement allele haplotypes: Evidence for T/t-like complex in man
536. New insights into the t-complex and control of sperm function
537. Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
538. 21-Hydroxylase heterozygotism and immune regulation
539. Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996
540. Characterization of the consequence of a novel Glu-380 to Asp mutation by expression of functional P450c21 in Escherichia coli
541. Intersex states