(Q35659075)

9 August 2017

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations (English)

1 reference

9 August 2017

20

Frederic Austerlitz

1 reference

9 August 2017

Karolina Kot

7

0 references

Manuel C. Lemos

object named as

Manuel C Lemos

9

0 references

Jan Lebl

object named as

Jan Lebl

21

0 references

Ondrej Cinek

17

object named as

Cinek O

1 reference

9 August 2017

1

Petra Dusatkova

1 reference

9 August 2017

12

Barbora Obermannova

1 reference

9 August 2017

11

Ruta Navardauskaite

1 reference

9 August 2017

16

Rasa Verkauskiene

1 reference

9 August 2017

18

Werner F Blum

1 reference

9 August 2017

Roland Pfäffle

2

1 reference

9 August 2017

Milton R Brown

3

1 reference

9 August 2017

Natallia Akulevich

4

1 reference

9 August 2017

Ivo J P Arnhold

5

1 reference

9 August 2017

Maria A Kalina

6

1 reference

9 August 2017

Ciril Krzisnik

8

1 reference

9 August 2017

Jana Malikova

10

1 reference

9 August 2017

Zuzana Pribilincova

13

1 reference

9 August 2017

Agnes Sallai

14

1 reference

9 August 2017

Gordana Stipancic

15

1 reference

9 August 2017

John S Parks

19

1 reference

9 August 2017

language of work or name

English

0 references

publication date

10 June 2015

1 reference

European Journal of Human Genetics

9 August 2017

1 reference

9 August 2017

24

1 reference

9 August 2017

3

1 reference

9 August 2017

415-420

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.126

9 August 2017

0 references

cites work

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone 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=4755373

A second-generation combined linkage physical map of the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

Haploview: analysis and visualization of LD and haplotype maps

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

Detecting population growth, selection and inherited fertility from haplotypic data in humans

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

The spectrum of hypopituitarism caused by PROP1 mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

A New Statistical Method for Haplotype Reconstruction from Population Data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone 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=4755373

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

The PROP1 2-base pair deletion is a common cause of combined pituitary hormone 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=4755373

Mutations in PROP1 cause familial combined pituitary hormone 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=4755373

Estimating the age of alleles by use of intraallelic variability

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone 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=4755373

Integrating common and rare genetic variation in diverse human populations

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

Longevity of the hypopituitary patients from the island Krk: a follow-up study.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

DMLE+: Bayesian linkage disequilibrium gene mapping.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755373

Ancestral mutations may cause a significant proportion of GCK-MODY

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.126

A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26059845

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Simple repeat DNA is not replicated simply

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26059845

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26059845

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.126

1 reference

9 August 2017

1 reference

9 August 2017

1 reference