(Q57675041)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24522099%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism (English)

1 reference

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7 March 2020

1 reference

hypogonadotropic hypogonadism

1 reference

7

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7 March 2020

Johanna Tommiska

8

1 reference

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7 March 2020

6

Nelly Pitteloud

1 reference

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7 March 2020

author name string

Johanna Känsäkoski

1

1 reference

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7 March 2020

Rainer Fagerholm

2

1 reference

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7 March 2020

Eeva-Maria Laitinen

3

1 reference

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7 March 2020

Kirsi Vaaralahti

4

1 reference

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7 March 2020

Peter Hackman

5

1 reference

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7 March 2020

language of work or name

English

0 references

publication date

12 February 2014

1 reference

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7 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24522099%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

75

1 reference

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7 March 2020

issue

5

1 reference

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7 March 2020

page(s)

641-644

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https://scigraph.springernature.com/pub.10.1038/pr.2014.23

7 March 2020

exact match

0 references

cites work

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Dysregulation of Semaphorin7A/β1-integrin signaling leads to defective GnRH-1 cell migration, abnormal gonadal development and altered fertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Semaphorin 7A promotes axon outgrowth through integrins and MAPKs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Suppression of β1-integrin in gonadotropin-releasing hormone cells disrupts migration and axonal extension resulting in severe reproductive alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Signalling by semaphorin receptors: cell guidance and beyond.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Integrins: bidirectional, allosteric signaling machines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

The GPR54 gene as a regulator of puberty

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Bone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.23

21 January 2018

Identifiers

DOI

10.1038/PR.2014.23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24522099%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference