Associated Papers
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 2023
Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.
Martínez de LaPiscina I et al.
European Journal of Endocrinology, 2021
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Screening for AIP gene mutations in a Han Chinese pituitary adenoma cohort followed by LOH analysis.
Cai F et al.
European Journal of Endocrinology, 2013
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.
Cuny T et al.
European Journal of Endocrinology, 2013
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
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.
Tichomirowa MA et al.
European Journal of Endocrinology, 2011
Familial isolated pituitary adenomas: from genetics to therapy.
Guaraldi F et al.
Clinical and Translational Science, 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
[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
Large genomic deletions in AIP in pituitary adenoma predisposition.
Georgitsi M et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Characteristics of familial isolated pituitary adenomas.
Daly AF et al.
Expert Review of Endocrinology & Metabolism, 2007
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
Cazabat L et al.
European Journal of Endocrinology, 2007
AIP gene in pituitary adenoma predisposition.
Vahteristo P et al.
Expert Review of Endocrinology & 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