(Q24307518)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

GOA release 2020-03-11

olfactory bulb development

1 reference

GOA release 2020-03-11

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Luigi Maione

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Lucie Tosca

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Frederic Brioude

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Gérard Tachdjian

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

2

Corinne Metay

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

5

Bruno Francou

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

11

Audrey Briand-Suleau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

15

Anne Guiochon-Mantel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

author name string

Jerome Bouligand

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Bassim Tou

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Julie Sarfati

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Blandine Esteva

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Sophie Brisset

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Michel Goossens

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

language of work or name

English

0 references

publication date

12 March 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

page(s)

1460-1465

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416012%20AND%20SRC:MED&resulttype=core&format=json

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

25 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Clinical genetics of Kallmann syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Genetics defects in GNRH1: a paradigm of hypothalamic congenital gonadotropin deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Kallmann's syndrome: is it always for life?

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Reversal of idiopathic hypogonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

A new normalizing algorithm for BAC CGH arrays with quality control metrics

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Semaphorins as signals for cell repulsion and invasion.

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Expanding the phenotype and genotype of female GnRH deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

Semaphorin 3A is required for guidance of olfactory axons in mice.

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDES022

7 January 2021