Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.Q239*
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AIP

NM_003977.4:p.Q239*

Associated Papers

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Beckers A et al.

Endocrine Reviews, 2013

Familial isolated pituitary adenomas: an emerging clinical entity.

Martucci F et al.

Journal of Endocrinological Investigation, 2012

Familial isolated pituitary adenomas: from genetics to therapy.

Guaraldi F et al.

Clinical and Translational Science, 2011

Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review.

Personnier C et al.

Hormone Research in Paediatrics, 2011

AIP gene and familial isolated pituitary adenomas.

Ozfirat Z et al.

Molecular and Cellular Endocrinology, 2010

Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma.

Cain JW et al.

Expert Review of Endocrinology & Metabolism, 2010

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.

Igreja S et al.

Human Mutation, 2010

[Genetics of familial pituitary adenomas].

Beckers A et al.

Bulletin De L'academie Nationale De Medecine, 2009

Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas.

Cazabat L et al.

Hormone Research, 2009

Characteristics of familial isolated pituitary adenomas.

Daly AF et al.

Expert Review of Endocrinology & Metabolism, 2007

The clinical, pathological, and genetic features of familial isolated pituitary adenomas.

Beckers A et al.

European Journal of Endocrinology, 2007

AIP gene in pituitary adenoma predisposition.

Vahteristo P et al.

Expert Review of Endocrinology & Metabolism, 2007

Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.

Daly AF et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas.

Barlier A et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update.

Karhu A et al.

Human Molecular Genetics, 2007

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA

Hormone Research, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."