(Q37385199)

20 August 2017

A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor (English)

1 reference

20 August 2017

1 reference

Beau I

1

1 reference

20 August 2017

Touraine P

2

1 reference

20 August 2017

Meduri G

3

1 reference

20 August 2017

Gougeon A

4

1 reference

20 August 2017

Desroches A

5

1 reference

20 August 2017

Matuchansky C

6

1 reference

20 August 2017

Milgrom E

7

1 reference

20 August 2017

Kuttenn F

8

1 reference

20 August 2017

Misrahi M

9

1 reference

20 August 2017

language of work or name

English

0 references

publication date

1 October 1998

1 reference

Journal of Clinical Investigation

20 August 2017

1 reference

20 August 2017

102

1 reference

20 August 2017

7

1 reference

20 August 2017

1352-1359

1 reference

The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Regulation of ovarian follicular development in primates: facts and hypotheses

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

The structure and organization of the human follicle-stimulating hormone receptor (FSHR) gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Assessment of fracture risk and its application to screening for postmenopausal osteoporosis: synopsis of a WHO report. WHO Study Group

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

An internal deletion in the cytoplasmic tail reverses the apical localization of human NGF receptor in transfected MDCK cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Current concepts of the roles of follicle stimulating hormone and luteinizing hormone in folliculogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Review of 59 patients with hypergonadotrophic amenorrhoea.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Luteinizing hormone/human chorionic gonadotropin receptors in breast cancer.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Basolateral localization and transcytosis of gonadotropin and thyrotropin receptors expressed in Madin-Darby canine kidney cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Luteinizing hormone receptor mutations and sex differentiation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

The lutropin/choriogonadotropin receptor ... 4 years later

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Anti-human FSH receptor monoclonal antibodies: immunochemical and immunocytochemical characterization of the receptor.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Intracellular retention of mutant gonadotropin receptors results in loss of hormone binding activity of the follitropin receptor but not of the lutropin/choriogonadotropin receptor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Recombinant human follicle stimulating hormone (r-hFSH; Gonal-F) versus highly purified urinary FSH (Metrodin HP): results of a randomized comparative study in women undergoing assisted reproductive techniques.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Immunochemical studies on cytochrome P-450 in adrenal microsomes

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Expression of aromatase cytochrome P-450 in premenopausal and postmenopausal human ovaries: an immunocytochemical study.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Immunohistochemical localization of 17 alpha-hydroxylase/C17-20 lyase and aromatase cytochrome P-450 in the human ovary during the menstrual cycle

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508982

Measurement of dimeric inhibin B throughout the human menstrual cycle

2 September 2018

1 reference

12 December 2020

Comparison of cellular distribution of LH receptors and steroidogenic enzymes in the porcine ovary

1 reference

12 December 2020

Four families with loss of function mutations of the thyrotropin receptor

1 reference

12 December 2020

Amenorrhoea associated with increased production of gonadotrophins and a morphologically normal ovarian follicular apparatus

1 reference

12 December 2020

Pregnancy following the "insensitive ovary syndrome"

1 reference

12 December 2020

Steroidogenesis by recombined follicular cells from the human ovary in vitro

1 reference

12 December 2020

An enzyme-linked immunosorbent assay for quantitation of aromatase cytochrome P-450

1 reference

12 December 2020

Light microscopic immunocytochemical localization of 3 beta-hydroxy-5-ene-steroid dehydrogenase/delta 5-delta 4-isomerase in the gonads and adrenal glands of the guinea pig

1 reference

12 December 2020

Noninvasive diagnosis of resistant ovary syndrome by ultrasonography

1 reference

12 December 2020

Premature ovarian failure

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI3795

1 reference

20 August 2017

1 reference

20 August 2017

1 reference