(Q35783009)

English

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia

scientific article published on 12 September 2006

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia (English)

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

1 reference

based on heuristic

inferred from title

object named as

Nathan R Hill

3

0 references

John C. Achermann

object named as

John C Achermann

6

0 references

Gerard S Conway

2

object named as

Gerard S Conway

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Mehul T Dattani

4

object named as

Mehul T Dattani

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

author name string

Lin Lin

1

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Peter C Hindmarsh

5

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

language of work or name

0 references

publication date

12 September 2006

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

The Journal of Clinical Endocrinology and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

91

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

5117-5121

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Gonadotropin-releasing hormone receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

12 July 2018

The GPR54 gene as a regulator of puberty

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

12 July 2018

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

12 July 2018

Genetic causes of human reproductive disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

12 July 2018

Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

12 July 2018

The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

12 July 2018

A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

12 July 2018

Variations in the Pattern of Pubertal Changes in Boys

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

12 July 2018

Two common naturally occurring mutations in the human gonadotropin-releasing hormone (GnRH) receptor have differential effects on gonadotropin gene expression and on GnRH-mediated signal transduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

25 September 2018

Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

25 September 2018

Receptor-misrouting: an unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

25 September 2018

Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

25 September 2018

The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

25 September 2018

Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865483

25 September 2018

Changes in gonadotrophin secretion during childhood and puberty

1 reference

https://pubmed.ncbi.nlm.nih.gov/16968799

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/16968799

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16968799

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/16968799

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/JC.2006-0807

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

ResearchGate publication ID

0 references

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