(Q34268709)

1 August 2017

title

Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals (English)

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hypogonadotropic hypogonadism

1 August 2017

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Layman LC

1

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1 August 2017

McDonough PG

2

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1 August 2017

Cohen DP

3

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1 August 2017

Maddox M

4

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1 August 2017

Tho SP

5

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1 August 2017

Reindollar RH

6

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1 August 2017

language of work or name

English

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publication date

1 June 2001

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1 August 2017

published in

Fertility and Sterility

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1 August 2017

volume

75

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1 August 2017

issue

6

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1 August 2017

page(s)

1148-1155

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The molecular basis of human hypogonadotropic hypogonadism

1 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0015-0282%2801%2901782-4

Genetics of human hypogonadotropic hypogonadism

7 January 2021

1 reference

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Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction

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

1 reference

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

7 January 2021

1 reference

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

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

https://api.crossref.org/works/10.1016%2FS0015-0282%2801%2901782-4

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

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Mutation analysis of the gonadotropin-releasing hormone receptor gene in idiopathic hypogonadotropic hypogonadism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2801%2901782-4

Chromosomal localization of the gonadotropin-releasing hormone receptor gene to human chromosome 4q13.1-q21.1 and mouse chromosome 5.

7 January 2021

1 reference

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Functional domains of the gonadotropin-releasing hormone receptor.

7 January 2021

1 reference

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Cloning and characterization of the human GnRH receptor

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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Pituitary function in isolated gonadotrophin deficiency

7 January 2021

1 reference

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Studies of endocrine function in "isolated" gonadotropin 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

1 reference

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A leptin missense mutation associated with hypogonadism and morbid obesity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2801%2901782-4

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0015-0282%2801%2901782-4

10.1016/S0015-0282(01)01782-4

7 January 2021

Identifiers

DOI

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1 August 2017

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