(Q78167394)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9988386%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

review article

1 reference

title

Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9988386%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

author name string

L C Layman

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9988386%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

language of work or name

English

0 references

publication date

1 February 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9988386%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

published in

Fertility and Sterility

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9988386%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

volume

71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9988386%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9988386%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

page(s)

201-218

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9988386%20AND%20SRC:MED&resulttype=core&format=json

Isolation of the gene and hypothalamic cDNA for the common precursor of gonadotropin-releasing hormone and prolactin release-inhibiting factor in human and rat

11 December 2019

cites work

1 reference

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Identification of a major up-stream transcription start site for the human progonadotropin-releasing hormone gene used in reproductive tissues and cell lines

7 January 2021

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Brain grafts reverse hypogonadism of gonadotropin releasing hormone deficiency.

7 January 2021

1 reference

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A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the hpg mouse

7 January 2021

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The hypogonadal mouse: reproductive functions restored by gene therapy

7 January 2021

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Normal structure of the gonadotropin-releasing hormone (GnRH) gene in patients with GnRH deficiency and idiopathic hypogonadotropic hypogonadism

7 January 2021

1 reference

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

7 January 2021

1 reference

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Normal Sequence of the Gonadotropin-Releasing Hormone Gene in Patients with Idiopathic Hypogonadotropic Hypogonadism1

7 January 2021

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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

7 January 2021

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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

7 January 2021

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

7 January 2021

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Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome

7 January 2021

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Priming effect of luteinizing hormone releasing hormone in the hypogonadal mouse.

7 January 2021

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Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting

7 January 2021

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Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo.

7 January 2021

1 reference

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KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development.

7 January 2021

1 reference

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An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

7 January 2021

1 reference

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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

7 January 2021

1 reference

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Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production

7 January 2021

1 reference

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Diagnosis of X-linked Adrenal Hypoplasia Congenita by Mutation Analysis of the DAX1 Gene

7 January 2021

1 reference

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Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita

7 January 2021

1 reference

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DAX1 mutations map to putative structural domains in a deduced three-dimensional model

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

Cloning and characterization of the human GnRH receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

Cloning, sequencing, and expression of human gonadotropin releasing hormone (GnRH) receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

Functional domains of the gonadotropin-releasing hormone receptor.

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

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

7 January 2021

1 reference

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Isolation and characterization of the human chorionic gonadotropin beta subunit (CG beta) gene cluster: regulation of transcriptionally active CG beta gene by cyclic AMP

7 January 2021

1 reference

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DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11

7 January 2021

1 reference

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Evolution of the genes for the beta subunits of human chorionic gonadotropin and luteinizing hormone

7 January 2021

1 reference

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Human follicle-stimulating hormone beta-subunit gene encodes multiple messenger ribonucleic acids

7 January 2021

1 reference

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Targeted disruption of the pituitary glycoprotein hormone alpha-subunit produces hypogonadal and hypothyroid mice.

7 January 2021

1 reference

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Identification of restriction-fragment length polymorphisms for the human chorionic gonadotropin-beta/luteinizing hormone-beta gene cluster

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

Human chorionic gonadotrophin-beta gene sequences in women with disorders of HCG production

7 January 2021

1 reference

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Hypogonadism Caused by a Single Amino Acid Substitution in the β Subunit of Luteinizing Hormone

7 January 2021

1 reference

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Screening of the mutations in luteinizing hormone beta-subunit in patients with menstrual disorders

7 January 2021

1 reference

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Worldwide frequency of a common genetic variant of luteinizing hormone: an international collaborative research. International Collaborative Research Group

7 January 2021

1 reference

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Identification of seven novel mutations in LH beta-subunit gene by SSCP.

7 January 2021

1 reference

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A new molecular variant of luteinizing hormone associated with female infertility

7 January 2021

1 reference

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The detection of Hind III restriction-fragment length polymorphisms using a deoxyribonucleic acid probe for the beta subunit of follicle-stimulating hormone

7 January 2021

1 reference

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Follicle-stimulating hormone beta gene structure in premature ovarian failure

7 January 2021

1 reference

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

7 January 2021

1 reference

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Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene

7 January 2021

1 reference

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

7 January 2021

1 reference

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Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone

7 January 2021

1 reference

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A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

7 January 2021

1 reference

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Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty

7 January 2021

1 reference

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A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

The follicle-stimulating hormone receptor gene is polymorphic in premature ovarian failure and normal controls.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2898%2900431-2

10.1016/S0015-0282(98)00431-2

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9988386%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

1 reference