(Q34348835)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Central precocious puberty caused by mutations in the imprinted gene MKRN3 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

Berenice Bilharinho Mendonca

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

Ana Claudia Latronico Xavier

2 March 2020

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Ana Paula Abreu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Andrew Dauber

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Delanie B Macedo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Sekoni D Noel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Vinicius N Brito

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

John C Gill

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Priscilla Cukier

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Iain R Thompson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Victor M Navarro

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Priscila C Gagliardi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Tânia Rodrigues

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Cristiane Kochi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Carlos Alberto Longui

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Dominique Beckers

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Francis de Zegher

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Luciana R Montenegro

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Rona S Carroll

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Joel N Hirschhorn

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Ursula B Kaiser

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

language of work or name

English

0 references

publication date

5 June 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

The New England Journal of Medicine

2 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

volume

368

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

issue

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

page(s)

2467-2475

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder

2 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Increased neurokinin B (Tac2) expression in the mouse arcuate nucleus is an early marker of pubertal onset with differential sensitivity to sex steroid-negative feedback than Kiss1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

The vertebrate makorin ubiquitin ligase gene family has been shaped by large-scale duplication and retroposition from an ancestral gonad-specific, maternal-effect gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Interactions between kisspeptin and neurokinin B in the control of GnRH secretion in the female rat.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Reproductive hormone-dependent and -independent contributions to developmental changes in kisspeptin in GnRH-deficient hypogonadal mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Mutations of the KISS1 gene in disorders of puberty

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Regulation of gonadotropin-releasing hormone secretion by kisspeptin/dynorphin/neurokinin B neurons in the arcuate nucleus of the mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

What controls the timing of puberty? An update on progress from genetic investigation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Prevalence of decreased visual acuity among preschool-aged children in an American urban population: the Baltimore Pediatric Eye Disease Study, methods, and results

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

A GPR54-activating mutation in a patient with central precocious puberty.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Public health implications of altered puberty timing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Gene expression profiling of hypothalamic hamartomas: a search for genes associated with central precocious puberty

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Neurobiological mechanisms of puberty in higher primates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

The GPR54 gene as a regulator of puberty

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends, and changes after migration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Genetic approaches to stature, pubertal timing, and other complex traits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Variation in the timing of puberty: clinical spectrum and genetic investigation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Neurobiological mechanisms of the onset of puberty in primates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Analysis of gonadotropin-releasing hormone gene structure in families with familial central precocious puberty and idiopathic hypogonadotropic hypogonadism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

6 July 2018

Prader-Willi syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

GPR54 polymorphisms in Chinese girls with central precocious puberty.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Novel paternally expressed intergenic transcripts at the mouse Prader-Willi/Angelman Syndrome locus

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

The ancient source of a distinct gene family encoding proteins featuring RING and C(3)H zinc-finger motifs with abundant expression in developing brain and nervous system

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadism

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808195

Familial central precocious puberty suggests autosomal dominant inheritance

27 October 2018

1 reference

12 December 2020

1 reference

12 December 2020

The Rate of Growth and Maturing of Twins

1 reference

12 December 2020

Normal ranges for immunochemiluminometric gonadotropin assays

1 reference

12 December 2020

An association study between the genetic polymorphisms within GnRHI, LHβ and FSHβ genes and central precocious puberty in Chinese girls

1 reference

12 December 2020

Identifiers

DOI

10.1056/NEJMOA1302160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23738509%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference