Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome. (Q51029666)

7 July 2018

4 references

3 June 2020

23 July 2020

10 September 2020

6 November 2020

1 reference

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome. (English)

1 reference

7 July 2018

G protein-coupled receptor

main subject

2 references

31 July 2019

10 September 2020

proto-oncogene proteins

1 reference

2 August 2019

4 references

3 June 2020

23 July 2020

10 September 2020

6 November 2020

1 reference

12 September 2019

2 references

14 September 2019

6 November 2020

1 reference

10 October 2019

1 reference

15 December 2019

genetic predisposition to disease

3 references

23 July 2020

10 September 2020

1 reference

Shana E McCormack

1

1 reference

7 July 2018

Dong Li

2

1 reference

7 July 2018

Yeon Joo Kim

3

1 reference

7 July 2018

Ji Young Lee

4

1 reference

7 July 2018

Soo-Hyun Kim

5

1 reference

7 July 2018

Robert Rapaport

6

1 reference

7 July 2018

Michael A Levine

7

1 reference

7 July 2018

language of work or name

English

0 references

publication date

1 July 2017

16 references

7 July 2018

The Journal of Clinical Endocrinology and Metabolism

24 March 2019

25 April 2019

20 June 2019

30 June 2019

31 July 2019

2 August 2019

12 September 2019

14 September 2019

10 October 2019

15 December 2019

18 December 2019

3 June 2020

23 July 2020

10 September 2020

6 November 2020

16 references

7 July 2018

24 March 2019

25 April 2019

20 June 2019

30 June 2019

31 July 2019

2 August 2019

12 September 2019

14 September 2019

10 October 2019

15 December 2019

18 December 2019

3 June 2020

23 July 2020

10 September 2020

6 November 2020

102

1 reference

7 July 2018

page(s)

2501-2507

1 reference

7 July 2018

issue

7

1 reference

7 July 2018

Creative Commons Attribution 4.0 International

copyright license

15 references

24 March 2019

25 April 2019

20 June 2019

30 June 2019

31 July 2019

2 August 2019

12 September 2019

14 September 2019

10 October 2019

15 December 2019

18 December 2019

3 June 2020

23 July 2020

10 September 2020

describes a project that uses

6 November 2020

copyright status

copyrighted

0 references

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5505202/fullTextXML

inferred from PubMed Central ID database lookup

on focus list of Wikimedia project

ScienceSource

0 references

cites work

Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

DIDA: A curated and annotated digenic diseases database.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Genetic causes of pituitary hormone deficiencies

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Digenic inheritance in medical genetics

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Predicting functional effect of human missense mutations using PolyPhen-2.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Magnetic resonance imaging in the diagnosis of growth hormone deficiency.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5505202

Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28453858

12 December 2020

inferred from PubMed ID database lookup

[Hypotheses concerning dimerism and non-penetrance.]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28453858

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1210/JC.2017-00332

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fvi4juez7jam3eanxsfzg5soxa

30 July 2022

release_fvi4juez7jam3eanxsfzg5soxa

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fvi4juez7jam3eanxsfzg5soxa

30 July 2022

https://api.fatcat.wiki/v0/release/fvi4juez7jam3eanxsfzg5soxa

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/fvi4juez7jam3eanxsfzg5soxa

1 reference

30 July 2022