Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. - Wikidata - wikimedia - TriplyDB

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

http://www.wikidata.org/entity/Q35956583

about

Androgen receptor repeat length polymorphism associated with male-to-female transsexualism Genetic counseling in direct-to-consumer exome sequencing: a case report.Aromatase and estrogen receptor α deficiency.A case of Aromatase deficiency due to a novel CYP19A1 mutation.Aromatase (CYP19) gene variants influence ovarian response to standard gonadotrophin stimulation.Molecular mechanisms of external genitalia development The ovarian response to standard gonadotrophin stimulation depends on FSHR, SHBG and CYP19 gene synergism A potential mechanism for the sexual dimorphism in the onset of puberty and incidence of idiopathic central precocious puberty in children: sex-specific kisspeptin as an integrator of puberty signals.Alterations in sensitivity to estrogen, dihydrotestosterone, and xenogens in B-lymphocytes from children with autism spectrum disorder and their unaffected twins/siblings A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans.Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)Defects of steroidogenesis.Skin steroidogenesis in health and disease.Gestational Hyperandrogenism in Developmental Programming.Differential expression of mRNA aromatase in ejaculated spermatozoa from infertile men in relation to either asthenozoospermia or teratozoospermia.An aroma of complexity: how the unique genetics of aromatase (CYP19A1) explain diverse phenotypes from hens and hyenas to human gynecomastia, and testicular and other tumors.Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.CYP19 gene variants affect the assisted reproduction outcome of women with polycystic ovary syndrome.The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.

P2860

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P2860

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

http://www.wikidata.org/entity/Q35956583

description

2006 nî lūn-bûn

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

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Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

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type

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Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

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Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

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prefLabel

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

@ast

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

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P1433

The Journal of Clinical Endocrinology and Metabolism

P1476

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

@en

P2093

Christine P Burren

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Jamal Raza

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Lin Lin

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Mehul T Dattani

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Oya Ercan

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Richard J Auchus

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Sarah M Creighton

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P2860

Characterization of mice deficient in aromatase (ArKO) because of targeted disruption of the cyp19 gene

Estrogen: consequences and implications of human mutations in synthesis and action.

Postnatal sex reversal of the ovaries in mice lacking estrogen receptors alpha and beta.

Aromatase--a brief overview.

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

Effect of testosterone and estradiol in a man with aromatase deficiency.

A comparison of letrozole and tamoxifen in postmenopausal women with early breast cancer.

Of mice and men: the evolving phenotype of aromatase deficiency.

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

Aromatase inhibitors in the treatment of breast cancer.

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982-990

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10.1210/JC.2006-1181

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John C. Achermann

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