Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.W194*
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PROP1

NM_006261.5:p.W194*

Associated Papers

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

Jullien N et al.

Clinical Endocrinology, 2021

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.

Correa FA et al.

Archives of Endocrinology and Metabolism, 2019

Combined pituitary hormone deficiency: current and future status.

Castinetti F et al.

Journal of Endocrinological Investigation, 2015

[Genetic aspects of growth hormone deficiency].

Reynaud R et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2011

Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.

Pfäffle R et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Identification and analysis of prophet of Pit-1-binding sites in human Pit-1 gene.

Ikeshita N et al.

Endocrinology, 2008

Basic science and clinical research advances in the pituitary transcription factors: Pit-1 and Prop-1.

Kerr J et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2008

[Clinical and genetic aspects of combined pituitary hormone deficiencies].

Castinetti F et al.

Annales D'endocrinologie, 2008

Hypothalamic and pituitary development: novel insights into the aetiology.

Kelberman D et al.

European Journal of Endocrinology, 2007

High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.

Halász Z et al.

Endocrine, 2006

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

Abrão MG et al.

Clinical Endocrinology, 2006

An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.

Reynaud R et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.

Baumann G

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002

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