(Q42144322)

English

A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype

scientific article published on February 1996

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype (English)

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

precocious puberty

1 reference

based on heuristic

inferred from title

author name string

Evans BA

1

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Bowen DJ

2

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Smith PJ

3

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Clayton PE

4

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Gregory JW

5

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

language of work or name

0 references

publication date

1 February 1996

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

33

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

2

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

143-147

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Gonadotropin-Independent Familial Sexual Precocity with Premature Leydig and Germinal Cell Maturation (Familial Testotoxicosis): Effects of a Potent Luteinizing Hormone-Releasing Factor Agonist and Medroxyprogesterone Acetate Therapy in Four Cases*

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Cloning and sequencing of human LH/hCG receptor cDNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Structure of the luteinizing hormone receptor gene and multiple exons of the coding sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Constitutively active mutants of rhodopsin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

In vitro mutagenesis and the search for structure-function relationships among G protein-coupled receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051841

29 May 2018

Puberty without gonadotropins. A unique mechanism of sexual development

1 reference

https://pubmed.ncbi.nlm.nih.gov/8929952

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.2.143

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

ResearchGate publication ID

0 references

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