A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty (Q34099955)

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English	A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty	scientific article

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty (English)

1 reference

Europe PubMed Central

31 July 2017

author name string

Armando Arroyo

1

1 reference

Europe PubMed Central

31 July 2017

Flavia Pernasetti

2

1 reference

Europe PubMed Central

31 July 2017

Vyacheslav V Vasilyev

3

1 reference

Europe PubMed Central

31 July 2017

Paula Amato

4

1 reference

Europe PubMed Central

31 July 2017

Samuel S C Yen

5

1 reference

Europe PubMed Central

31 July 2017

Pamela L Mellon

6

1 reference

Europe PubMed Central

31 July 2017

publication date

1 August 2002

1 reference

Europe PubMed Central

31 July 2017

Clinical Endocrinology

1 reference

Europe PubMed Central

31 July 2017

57

1 reference

Europe PubMed Central

31 July 2017

2

1 reference

Europe PubMed Central

31 July 2017

283-291

1 reference

Europe PubMed Central

31 July 2017

Central precocious puberty: clinical and laboratory features

1 reference

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5 July 2018

CDC growth charts: United States

1 reference

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5 July 2018

Structure and function of the type 1 insulin-like growth factor receptor.

1 reference

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5 July 2018

Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Aromatase in aging women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Heritable disorders of pituitary development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

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

1 reference

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5 July 2018

Overexpression of insulin-like growth factor-1 attenuates the myocyte renin-angiotensin system in transgenic mice

1 reference

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5 July 2018

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Insulin-like growth factor I-mediated activation of the transcription factor cAMP response element-binding protein in PC12 cells. Involvement of p38 mitogen-activated protein kinase-mediated pathway.

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5 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Pediatric endocrinology update: an overview. The essential roles of estrogens in pubertal growth, epiphyseal fusion and bone turnover: lessons from mutations in the genes for aromatase and the estrogen receptor

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Mutations in PROP1 cause familial combined pituitary hormone deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism

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5 July 2018

Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

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Factors predicting the response to growth hormone (GH) therapy in prepubertal children with GH deficiency

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Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man

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Growth hormone (GH) insensitivity due to primary GH receptor deficiency

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5 July 2018

Race- and sex-specific reference data for triceps and subscapular skinfolds and weight/stature

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5 July 2018

The influence of gonadal function and the effect of gonadal suppression treatment on final height in growth hormone (GH)-treated GH-deficient children

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Height of normal pituitary gland on MR imaging: age and sex differentiation

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5 July 2018

Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material

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5 July 2018

The effect of pubertal delay on adult height in men with isolated hypogonadotropic hypogonadism

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2932477

5 July 2018

Human Prop-1: cloning, mapping, genomic structure

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https://api.crossref.org/works/10.1046%2FJ.1365-2265.2002.01550.X

21 January 2018

Body Mass Index in Growth Hormone Deficient Children before and during Growth Hormone Treatment

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Use and interpretation of anthropometric indicators of nutritional status. WHO Working Group

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28 October 2018

Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene

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https://pubmed.ncbi.nlm.nih.gov/12153609

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Standardized Percentile Curves of Body-Mass Index for Children and Adolescents

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https://pubmed.ncbi.nlm.nih.gov/12153609

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Growth pattern and age at menarche of obese girls in a transitional society

1 reference

https://pubmed.ncbi.nlm.nih.gov/12153609

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A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/12153609

12 December 2020

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Longitudinal anthropometric measurements in patients with growth hormone deficiency. Effect of human growth hormone treatment

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https://pubmed.ncbi.nlm.nih.gov/12153609

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Identifiers

10.1046/J.1365-2265.2002.01550.X

1 reference

Europe PubMed Central

31 July 2017

release_vfxguvs7ifg4jgojrojiqj5gbu

1 reference

https://api.fatcat.wiki/v0/release/vfxguvs7ifg4jgojrojiqj5gbu

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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