(Q43176450)

15 November 2017

0 references

Clinical genetic testing for Kallmann syndrome (English)

1 reference

15 November 2017

Lawrence C Layman

1

1 reference

PMC publication ID

3644595

15 November 2017

language of work or name

English

0 references

publication date

1 May 2013

1 reference

The Journal of Clinical Endocrinology and Metabolism

15 November 2017

1 reference

15 November 2017

98

1 reference

15 November 2017

5

1 reference

15 November 2017

1860-1862

1 reference

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes

15 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

The genetic basis of female reproductive disorders: etiology and clinical testing

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

Identification of HESX1 mutations in Kallmann syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

Exome sequencing makes medical genomics a reality

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644595

1 December 2018

Identifiers

DOI

10.1210/JC.2013-1624

1 reference

15 November 2017

1 reference

PMC publication ID

3644595

15 November 2017

PubMed publication ID

23650337

1 reference

PMC publication ID

3644595