(Q36836029)

English

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort

scientific article published on 21 January 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

congenital disorder

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congenital adrenal hyperplasia due to 21-hydroxylase deficiency

0 references

1 reference

based on heuristic

inferred from title

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

object named as

Nils Krone

1

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Stefanie Hahner

object named as

Stefanie Hahner

7

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object named as

James Hodson

4

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object named as

Thang S Han

10

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object named as

Wiebke Arlt

16

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United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)

17

object named as

United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)

1 reference

Europe PubMed Central

16 August 2017

PMC publication ID

Debbie S Willis

3

object named as

Debbie S Willis

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Europe PubMed Central

16 August 2017

PMC publication ID

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object named as

Silvia Parajes

1 reference

Europe PubMed Central

16 August 2017

PMC publication ID

author name string

Ian T Rose

2

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Europe PubMed Central

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16 August 2017

Sarah H Wild

5

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Europe PubMed Central

PMC publication ID

16 August 2017

Emma J Doherty

6

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Roland H Stimson

9

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Paul V Carroll

11

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Gerry S Conway

12

1 reference

Europe PubMed Central

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16 August 2017

Brian R Walker

13

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Europe PubMed Central

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16 August 2017

Fiona MacDonald

14

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Europe PubMed Central

PMC publication ID

16 August 2017

Richard J Ross

15

1 reference

Europe PubMed Central

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16 August 2017

language of work or name

0 references

publication date

21 January 2013

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

The Journal of Clinical Endocrinology and Metabolism

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

98

1 reference

Europe PubMed Central

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16 August 2017

2

1 reference

Europe PubMed Central

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16 August 2017

E346-54

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Genetics of congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Adult consequences of congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Impaired subjective health status in 256 patients with adrenal insufficiency on standard therapy based on cross-sectional analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

What causes low rates of child-bearing in congenital adrenal hyperplasia?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

29 September 2017

Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

5 September 2018

Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

5 September 2018

Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

5 September 2018

Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

5 September 2018

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

5 September 2018

Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

5 September 2018

Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

5 September 2018

Long-term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

5 September 2018

Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

4 December 2018

Type of Mutation and Surgical Procedure Affect Long-Term Quality of Life for Women with Congenital Adrenal Hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651585

4 December 2018

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

1 reference

https://pubmed.ncbi.nlm.nih.gov/23337727

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions

1 reference

https://pubmed.ncbi.nlm.nih.gov/23337727

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23337727

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees

1 reference

https://pubmed.ncbi.nlm.nih.gov/23337727

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/23337727

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23337727

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate

1 reference

https://pubmed.ncbi.nlm.nih.gov/23337727

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life

1 reference

https://pubmed.ncbi.nlm.nih.gov/23337727

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

What Causes Low Rates of Child-Bearing in Congenital Adrenal Hyperplasia?

1 reference

https://pubmed.ncbi.nlm.nih.gov/23337727

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/JC.2012-3343

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

ResearchGate publication ID

0 references

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