(Q35543155)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Moosa Mohammadi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

Berenice Bilharinho Mendonca

2 February 2020

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

Ana Claudia Latronico Xavier

2 February 2020

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

9

Nelly Pitteloud

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Ericka B Trarbach

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Ana Paula Abreu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Heraldo Mendes Garmes

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Maria Tereza M Baptista

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Milena Gurgel Teles

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Elaine M F Costa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

language of work or name

English

0 references

publication date

12 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

3491-3496

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

Fibroblast growth factor signalling: from development to cancer

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

The genetics of idiopathic hypogonadotropic hypogonadism:unraveling the biology of human sexual development.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Genetic insights into human isolated gonadotropin deficiency.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Impaired FGF signaling contributes to cleft lip and palate

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Role of fibroblast growth factor receptors 1 and 2 in the metanephric mesenchyme

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

FGF and FGFR signaling in chondrodysplasias and craniosynostosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Cellular signaling by fibroblast growth factor receptors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Nonsense-mediated mRNA decay: insights into mechanism from the cellular abundance of human Upf1, Upf2, Upf3, and Upf3X proteins

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Inactivation of FGF8 in early mesoderm reveals an essential role in kidney development

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Structure and sequence of human FGF8

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213864

Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia

7 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20463092

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20463092

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2010-0176

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463092%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference