(Q49115420)

English

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.

scientific article published in February 2005

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15670191%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15670191%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Timothy Barrett

6

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7 January 2020

author name string

Rainbow LA

1

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7 January 2020

Rees SA

2

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7 January 2020

Shaikh MG

3

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7 January 2020

Shaw NJ

4

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7 January 2020

Cole T

5

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7 January 2020

Kirk JM

7

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7 January 2020

publication date

1 February 2005

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7 January 2020

Clinical Endocrinology

1 reference

Europe PubMed Central

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7 January 2020

62

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7 January 2020

2

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7 January 2020

163-168

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7 January 2020

The molecular basis for developmental disorders of the pituitary gland in man.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Mutations in PROP1 cause familial combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

The spectrum of hypopituitarism caused by PROP1 mutations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Pituitary dwarfism in the R271W Pit-1 gene mutation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Missense mutations of human homeoboxes: A review

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Human Prop-1: cloning, mapping, genomic structure

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Maternal age re septo-optic dysplasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2004.02189.X

21 January 2018

Identifiers

10.1111/J.1365-2265.2004.02189.X

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15670191%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15670191%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

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