(Q28553212)

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The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

8

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7 March 2020

author name string

Vivian Oliveira Moura-Massari

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Flávia Siqueira Cunha

2

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Larissa Garcia Gomes

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Diogo Bugano Diniz Gomes

4

1 reference

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7 March 2020

José Antônio Miguel Marcondes

5

1 reference

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7 March 2020

Guiomar Madureira

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Berenice Bilharinho de Mendonca

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

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5 February 2016

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7 March 2020

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

11

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

e0148548

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

copyright license

Creative Commons Attribution 4.0 International

5 February 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Androgen receptor CAG repeat polymorphism and epigenetic influence among the south Indian women with Polycystic Ovary Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

19 March 2017

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

19 March 2017

Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

19 March 2017

The CAG repeat polymorphism in the androgen receptor gene modifies the risk for hypospadias in Caucasians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

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=4744051

29 September 2017

Association of androgen receptor CAG repeat polymorphism and polycystic ovary syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

Evaluation and treatment of hirsutism in premenopausal women: an endocrine society clinical practice guideline.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing 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=4744051

29 September 2017

Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

Variants in the 5alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

An update 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=4744051

29 September 2017

Practical management of the intersex infant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

Androgen action on human skin -- from basic research to clinical significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

Clinical assessment of body hair growth in women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

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=4744051

29 September 2017

V89L polymorphism of type-2, 5-alpha reductase enzyme gene predicts prostate cancer presence and progression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

Polymorphic CAG and GGN repeat lengths in the androgen receptor gene and prostate cancer risk: a population-based case-control study in China

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

The CAG repeat within the androgen receptor gene and its relationship to prostate cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

Clitoral size in normal women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

29 September 2017

CAG repeat polymorphism in androgen receptor gene is not directly associated with polycystic ovary syndrome but influences serum testosterone levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

3 June 2018

Androgen receptor gene CAG repeat polymorphism in the development of ovarian hyperandrogenism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

3 June 2018

Allelic frequencies of six polymorphic markers for risk of prostate cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

3 June 2018

Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

3 June 2018

Genotype of Yupik Eskimos 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=4744051

3 June 2018

Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporadic prostate cancer risk: a meta-analysis

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

Hypospadias risk and polymorphism in SRD5A2 and CYP17 genes: case-control study among Indian children

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

Could the leukocyte x chromosome inactivation pattern be extrapolated to hair bulbs?

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

Association of V89L SRD5A2 polymorphism with prostate cancer development in a Japanese population

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

The role of sex hormone-binding globulin and androgen receptor gene variants in the development of polycystic ovary syndrome.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

CAG polymorphic repeat length in androgen receptor gene combined with pretreatment serum testosterone level as prognostic factor in patients with metastatic prostate cancer

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

21-Hydroxylase–deficient nonclassic adrenal hyperplasia is a progressive disorder: A multicenter study

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

Is reduced CAG repeat length in androgen receptor gene associated with risk of prostate cancer in Indian population?

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0148548

21 January 2018

The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

27 November 2018

Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744051

27 November 2018

Androgen receptor gene CAG repeat polymorphism and X-chromosome inactivation in children with premature adrenarche

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trinucleotide (CAG) repeat polymorphisms in the androgen receptor gene: molecular markers of risk for male infertility

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

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/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue specificity of X-chromosome inactivation patterns

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/26848581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0148548

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

2016PLoSO..1148548M

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26848581%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

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