(Q36282285)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

hypogonadotropic hypogonadism

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Leman Damla Kotan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Eda Mengen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Bilgin Yüksel

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Zeynep Şıklar

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Merih Berberoğlu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Sebila Dökmetaş

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Mehmet Fatih Kılıçlı

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Ayla Güven

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Birgül Kirel

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Nurçin Saka

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Şükran Poyrazoğlu

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Yaşar Cesur

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Murat Doğan

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Samim Özen

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Mehmet Nuri Özbek

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Hüseyin Demirbilek

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

M Burcu Kekil

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Fatih Temiz

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Neslihan Önenli Mungan

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Ali Kemal Topaloğlu

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

5 July 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

Journal of clinical research in pediatric endocrinology

7 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

121-126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations

7 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=3459159

Genetic counseling for isolated GnRH deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

GnRH receptor mutations in isolated gonadotropic deficiency.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Neurokinin B and its receptor in hypogonadotropic hypogonadism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Genetics basis for GnRH-dependent pubertal disorders in humans.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

New genes controlling human reproduction and how you find them

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Genetics of hypogonadotropic hypogonadism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Inactivating KISS1 mutation and hypogonadotropic hypogonadism

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Molecular Genetic Analysis of Normosmic Hypogonadotropic Hypogonadism in a Turkish Population: Identification and Detailed Functional Characterization of a Novel Mutation in the Gonadotropin-Releasing Hormone Receptor Gene

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459159

Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22766261

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Consanguineous marriage in Turkey and its impact on fertility and mortality

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22766261

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22766261

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.4274/JCRPE.725

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

22766261

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22766261%20AND%20SRC:MED&resulttype=core&format=json