(Q35869509)

10 August 2017

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia (English)

1 reference

10 August 2017

1 reference

1

1 reference

10 August 2017

6

1 reference

10 August 2017

Chengkang Zhang

16

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Gerasimos P Sykiotis

Gerasimos P Sykiotis

7

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Andrew A Dwyer

Andrew A Dwyer

5

0 references

Moosa Mohammadi

Moosa Mohammadi

19

0 references

Nelly Pitteloud

24

Nelly Pitteloud

1 reference

10 August 2017

13

Lacey Plummer

1 reference

10 August 2017

20

Richard Quinton

1 reference

10 August 2017

21

Yisrael Sidis

1 reference

10 August 2017

17

Qun-Yong Zhou

1 reference

10 August 2017

15

Bihua Feng

1 reference

10 August 2017

23

Mehul T Dattani

1 reference

10 August 2017

18

Huaibin Chen

1 reference

10 August 2017

Magdalena Avbelj

2

1 reference

10 August 2017

Mark J McCabe

3

1 reference

10 August 2017

Christopher J Romero

4

1 reference

10 August 2017

Louise C Gregory

8

1 reference

10 August 2017

Daniel Diaczok

9

1 reference

10 August 2017

Vaitsa Tziaferi

10

1 reference

10 August 2017

Mariet W Elting

11

1 reference

10 August 2017

Raja Padidela

12

1 reference

10 August 2017

Cecilia Martin

14

1 reference

10 August 2017

Sally Radovick

22

1 reference

10 August 2017

language of work or name

English

0 references

publication date

8 February 2012

1 reference

The Journal of Clinical Endocrinology and Metabolism

10 August 2017

1 reference

10 August 2017

97

1 reference

10 August 2017

4

1 reference

10 August 2017

E694-9

1 reference

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Deletion of Otx2 in GnRH neurons results in a mouse model of hypogonadotropic hypogonadism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

A genetic basis for functional hypothalamic amenorrhea

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Genetic regulation of pituitary gland development in human and mouse

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Discovery of transcriptional regulators and signaling pathways in the developing pituitary gland by bioinformatic and genomic approaches

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Induction and specification of cranial placodes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319178

Studies in cranio-encephalic dysraphia. I. Agenesia of the olfactory lobe (lateral telencephaloschisis) and of the callous and anterior commissures (median telencephaloschisis); olfacto-genital dysplasia

14 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22319038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2011-2938

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

22319038

1 reference