(Q40566976)

English

New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype

scientific article published on October 2003

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

author name string

Souzan Salemi

1

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Amélie Besson

2

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Andrée Eblé

3

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Sabina Gallati

4

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Roland W Pfäffle

5

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Primus E Mullis

6

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

publication date

1 October 2003

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Growth Hormone & I G F Research

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

13

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

264-268

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Genealogy of the Anterior Pituitary Gland: Tracing a Family Tree.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Transcription factors in pituitary development

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Pituitary dwarfism in the R271W Pit-1 gene mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital hypothyroidism in a young man with growth hormone, thyrotropin, and prolactin deficiencies

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism. Possible functionality of the PIT-1 C-terminus

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Consensus Guidelines for the Diagnosis and Treatment of Growth Hormone (GH) Deficiency in Childhood and Adolescence: Summary Statement of the GH Research Society

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

In Vivo Mutational Analysis of the DNA Binding Domain of the Tissue-specific Transcription Factor, Pit-1

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of Pit-1 in the gene expression of growth hormone, prolactin, and thyrotropin

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-6374%2803%2900015-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1096-6374(03)00015-7

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q40566976&oldid=2070231997"