(Q33682471)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24628548%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3 (English)

1 reference

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10 March 2020

1 reference

15

1 reference

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Berenice Bilharinho Mendonca

10 March 2020

19

1 reference

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10 March 2020

Sonir R Antonini

21

1 reference

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Ana Claudia Latronico Xavier

10 March 2020

23

1 reference

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10 March 2020

author name string

Delanie B Macedo

1

1 reference

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10 March 2020

Ana Paula Abreu

2

1 reference

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10 March 2020

Ana Claudia S Reis

3

1 reference

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10 March 2020

Luciana R Montenegro

4

1 reference

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10 March 2020

Andrew Dauber

5

1 reference

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10 March 2020

Daiane Beneduzzi

6

1 reference

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10 March 2020

Priscilla Cukier

7

1 reference

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10 March 2020

Leticia F G Silveira

8

1 reference

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10 March 2020

Milena G Teles

9

1 reference

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10 March 2020

Rona S Carroll

10

1 reference

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10 March 2020

Gil Guerra Junior

11

1 reference

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10 March 2020

Guilherme Guaragna Filho

12

1 reference

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10 March 2020

Zoran Gucev

13

1 reference

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10 March 2020

Ivo J P Arnhold

14

1 reference

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10 March 2020

Ayrton C Moreira

16

1 reference

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10 March 2020

Carlos Eduardo Martinelli

17

1 reference

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10 March 2020

Joel N Hirschhorn

18

1 reference

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10 March 2020

Vinicius N Brito

20

1 reference

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10 March 2020

Ursula B Kaiser

22

1 reference

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10 March 2020

language of work or name

English

0 references

publication date

14 March 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24628548%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

10 March 2020

published in

1 reference

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10 March 2020

volume

99

1 reference

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10 March 2020

issue

6

1 reference

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10 March 2020

page(s)

E1097-103

1 reference

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Central precocious puberty caused by mutations in the imprinted gene MKRN3.

10 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=4037732

Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

A potential mechanism for the sexual dimorphism in the onset of puberty and incidence of idiopathic central precocious puberty in children: sex-specific kisspeptin as an integrator of puberty signals.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Pubertal timing and growth influences cardiometabolic risk factors in adult males and females

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Mutations of the KISS1 gene in disorders of puberty

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Age at menarche and risk of type 2 diabetes: results from 2 large prospective cohort studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Clinical practice. Precocious puberty

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

The neuroendocrinology of human puberty revisited

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Management and outcome of central precocious puberty

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Central precocious puberty in a girl with Prader-Willi syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

30 October 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=4037732

The kisspeptin system of the human hypothalamus: sexual dimorphism and relationship with gonadotropin-releasing hormone and neurokinin B neurons.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Early age at menarche associated with cardiovascular disease and mortality

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Association between age at menarche and risk of diabetes in adults: results from the EPIC-Norfolk cohort study

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Idiopathic central precocious puberty in 28 boys.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

GPR54 polymorphisms in Chinese girls with central precocious puberty.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Prevalence and incidence of precocious pubertal development in Denmark: an epidemiologic study based on national registries.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037732

Precocious puberty: who has it? Who should be treated?

30 October 2018

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

Diagnostic value of fluorometric assays in the evaluation of precocious puberty

1 reference

12 December 2020

Parental legacy determines methylation and expression of an autosomal transgene: a molecular mechanism for parental imprinting

1 reference

12 December 2020

Normal ranges for immunochemiluminometric gonadotropin assays

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2013-3126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24628548%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24628548%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

24628548

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24628548%20AND%20SRC:MED&resulttype=core&format=json