(Q38297297)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization (English)

1 reference

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10 November 2019

7

1 reference

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10 November 2019

author name string

R Quinton

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

V M Duke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

A Robertson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

J M Kirk

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

G Matfin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

P A de Zoysa

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

G S MacColl

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

H S Jacobs

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

G S Conway

10

1 reference

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10 November 2019

M Besser

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

R G Stanhope

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

P M Bouloux

13

1 reference

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10 November 2019

publication date

1 August 2001

1 reference

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10 November 2019

published in

Clinical Endocrinology

1 reference

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10 November 2019

volume

55

1 reference

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10 November 2019

page(s)

163-174

1 reference

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10 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531922%20AND%20SRC:MED&resulttype=core&format=json

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

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Congenital heart disease associated with sporadic Kallmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

The Kallmann's syndrome variant (KSV) model of the schizophrenias

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Diagnosis of mutations by the PCR double RFLP method (PCR-dRFLP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Incomplete bilateral transverse facial cleft--a previously unreported associated defect of the Kallmann's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Olfactory function in patients with hypogonadotropic hypogonadism: an all-or-none phenomenon?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Kallmann's syndrome: mirror movements associated with bilateral corticospinal tract hypertrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Mirror movements in X-linked Kallmann's syndrome. I. A neurophysiological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Kallmann syndrome in two sisters with other developmental anomalies also affecting their father.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Father-to-son transmission of hypogonadism with anosmia: Kallmann's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Kallman's syndrome with associated cardiovascular and intracranial anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Effect of Purified Luteinizing Hormone Releasing Factor on Normal and Hypogonadotrophic Anosmic Men

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Kallmann's syndrome: is it always for life?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Moebius Syndrome in Kallmann Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Neurologic findings in men with isolated hypogonadotropic hypogonadism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

A leptin missense mutation associated with hypogonadism and morbid obesity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Kallmann syndrome with associated cleft lip and palate: case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Familial spastic paraplegia with Kallmann's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Isolated gonadotropin deficiency in boys: clinical characteristics and growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Restoration of Normal Pituitary Gonadotropin Reserve by Administration of Luteinizing-Hormone-Releasing Hormone in Patients with Hypogonadotropic Hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X

Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01277.X