(Q37358955)

English

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production

scientific article published on August 1996

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scholarly article

1 reference

Europe PubMed Central

19 August 2017

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production (English)

1 reference

Europe PubMed Central

19 August 2017

1 reference

based on heuristic

inferred from title

hypogonadotropic hypogonadism

1 reference

based on heuristic

inferred from title

William F. Crowley

5

object named as

W F Crowley

1 reference

Europe PubMed Central

19 August 2017

2

object named as

P Boepple

1 reference

Europe PubMed Central

19 August 2017

author name string

R L Habiby

1

1 reference

Europe PubMed Central

19 August 2017

L Nachtigall

3

1 reference

Europe PubMed Central

19 August 2017

P M Sluss

4

1 reference

Europe PubMed Central

19 August 2017

J L Jameson

6

1 reference

Europe PubMed Central

19 August 2017

language of work or name

0 references

publication date

1 August 1996

1 reference

Europe PubMed Central

19 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

19 August 2017

98

1 reference

Europe PubMed Central

19 August 2017

1055-1062

1 reference

Europe PubMed Central

19 August 2017

4

1 reference

Europe PubMed Central

19 August 2017

Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

The RXR heterodimers and orphan receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Ad4BP regulating steroidogenic P-450 gene is a member of steroid hormone receptor superfamily.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Familial congenital adrenal hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Episodic luteinizing hormone secretion in man. Pulse analysis, clinical interpretation, physiologic mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Clinical review 4: Diagnosis and treatment of isolated gonadotropin-releasing hormone deficiency in men.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Neuroendocrine Control of Human Reproduction in the Male

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Steroidogenic factor I, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

6 September 2017

Gonadotropin-releasing hormone: role of pulsatile secretion in the regulation of reproduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

14 September 2017

Function and distribution of a steroidogenic cell-specific transcription factor, Ad4BP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

14 September 2017

The physiology of gonadotropin-releasing hormone (GnRH) secretion in men and women.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

14 September 2017

Lutropin/choriogonadotropin down-regulates its receptor by both receptor-mediated endocytosis and a cAMP-dependent reduction in receptor mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

28 September 2017

Utility of free alpha-subunit as an alternative neuroendocrine marker of gonadotropin-releasing hormone (GnRH) stimulation of the gonadotroph in the human: evidence from normal and GnRH-deficient men.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

28 September 2017

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

The orphan nuclear receptor, steroidogenic factor-1, regulates the glycoprotein hormone alpha-subunit gene in pituitary gonadotropes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

Congenital adrenal hypoplasia: two new cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

Contrasting effects of subcutaneous pulsatile GnRH therapy in congenital adrenal hypoplasia and Kallmann's syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

Hypogonadism in congenital adrenal hypoplasia: evidence for a hypothalamic origin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

Decreased receptor binding of biologically inactive thyrotropin in central hypothyroidism. Effect of treatment with thyrotropin-releasing hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

Improved measurement of free alpha subunit of glycoprotein hormones by assay with use of a monoclonal antibody

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

Hypothalamic gonadotropin-releasing hormone secretion and follicle-stimulating hormone dynamics during the luteal-follicular transition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

Congenital adrenal hypoplasia and hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

Gonadotrophin deficiency and adrenocortical insufficiency in children: a new syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

26 June 2018

A comparison of 13 different immunometric assay kits for gonadotropins: implications for clinical investigation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

2 September 2018

The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

2 September 2018

The nuclear receptor steroidogenic factor 1 is essential for the formation of the ventromedial hypothalamic nucleus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

2 September 2018

Steroidogenic factor 1 is the essential transcript of the mouse Ftz-F1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

2 September 2018

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

2 September 2018

Applications of a new chemiluminometric thyrotropin assay to subnormal measurement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

2 September 2018

Steroidogenic factor 1 is the essential transcript of the mouse Ftz-F1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507522

2 October 2018

Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8770879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8770879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8770879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prolonged survival without therapy in congenital adrenal hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8770879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuroendocrine-gonadal axis in men: frequent sampling of LH, FSH, and testosterone

1 reference

https://pubmed.ncbi.nlm.nih.gov/8770879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of gonadotropic response to pulsatile gonadotropin-releasing hormone in isolated hypogonadotropic hypogonadism associated to congenital adrenal hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8770879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypothalamic hypogonadism in congenital adrenal hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8770879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI118866

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

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