A case of Aromatase deficiency due to a novel CYP19A1 mutation (Q35098201)

6 August 2017

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A case of Aromatase deficiency due to a novel CYP19A1 mutation (English)

1 reference

6 August 2017

1 reference

Hamish S Scott

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Lucia Gagliardi

1 reference

6 August 2017

Jinghua Feng

series ordinal

1 reference

6 August 2017

David J Torpy

series ordinal

1 reference

6 August 2017

publication date

19 February 2014

1 reference

6 August 2017

published in

BMC Endocrine Disorders

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6 August 2017

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6 August 2017

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Creative Commons Attribution 2.0 Generic

6 August 2017

start time

19 February 2014

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April 2022 Public Data File from Crossref

copyrighted

1 reference

April 2022 Public Data File from Crossref

copyrighted

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cites work

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Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence

9 July 2018

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9 July 2018

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Structural basis for androgen specificity and oestrogen synthesis in human aromatase

9 July 2018

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Variable phenotypes associated with aromatase (CYP19) insufficiency in humans

9 July 2018

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P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia

9 July 2018

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9 July 2018

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Accurate prediction of solvent accessibility using neural networks-based regression.

9 July 2018

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9 July 2018

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Genital findings in the female pseudo-hermaphroditism of the congenital adrenogenital syndrome; morphology, frequency, development and heredity of the different genital forms

9 July 2018

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The ovarian phenotype of the aromatase knockout (ArKO) mouse

9 July 2018

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Aromatase-deficient (ArKO) mice have a phenotype of increased adiposity

9 July 2018

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Increased adipose tissue in male and female estrogen receptor-alpha knockout mice

9 July 2018

1 reference

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Effect of Testosterone and Estradiol in a Man with Aromatase Deficiency

9 July 2018

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Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.

9 July 2018

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Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens

9 July 2018

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Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries

9 July 2018

1 reference

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Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene

9 July 2018

1 reference

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Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man

9 July 2018

1 reference

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Aromatase cytochrome P450, the enzyme responsible for estrogen biosynthesis

9 July 2018

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A three-dimensional model of aromatase cytochrome P450.

9 July 2018

1 reference

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Isolation of a full-length cDNA insert encoding human aromatase system cytochrome P-450 and its expression in nonsteroidogenic cells

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3936939

Structural analysis of the gene encoding human aromatase cytochrome P-450, the enzyme responsible for estrogen biosynthesis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3936939

The administration of pharmacological doses of testosterone or 19-nortestosterone to normal men is not associated with increased insulin secretion or impaired glucose tolerance

9 July 2018

1 reference

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The relative contributions of hepatic and peripheral tissues to insulin resistance in hyperandrogenic women

9 July 2018

1 reference

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Structural characterization of the human estrogen synthetase (aromatase) gene

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3936939

Tissue-specific expression of human P-450AROM. The promoter responsible for expression in adipose tissue is different from that utilized in placenta

9 July 2018

1 reference

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A New Cause of Female Pseudohermaphroditism: Placental Aromatase Deficiency

9 July 2018

1 reference

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Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene

9 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency

21 January 2018

1 reference

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Hypothalamic-Pituitary-Ovarian Axis during Infancy, Early and Late Prepuberty in an Aromatase-Deficient Girl Who Is a Compound Heterocygote for Two New Point Mutations of the CYP19 Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

A novel mutation in the human aromatase gene: insights on the relationship among serum estradiol, longitudinal growth and bone mineral density in an adult man under estrogen replacement treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

Oestradiol replacement treatment and glucose homeostasis in two men with congenital aromatase deficiency: evidence for a role of oestradiol and sex steroids imbalance on insulin sensitivity in men.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

Human aromatase: gene resequencing and functional genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

Progressive development of insulin resistance phenotype in male mice with complete aromatase (CYP19) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

Estrogen replacement reverses the hepatic steatosis phenotype in the male aromatase knockout mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6823-14-16

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3936939

A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom).

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3936939

A novel compound heterozygous mutation of the aromatase gene in an adult man: reinforced evidence on the relationship between congenital oestrogen deficiency, adiposity and the metabolic syndrome

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24552606

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1472-6823-14-16

1 reference

Dimensions Publication ID

6 August 2017

0 references

1 reference

6 August 2017

1 reference