A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease (original) (raw)

Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) — case reports with literature review

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Clinical and molecular genetics of primary pigmented nodular adrenocortical disease

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APRKAR1AMutation Associated with Primary Pigmented Nodular Adrenocortical Disease in 12 Kindreds

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Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series

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Primary pigmented nodular adrenocortical disease could be one of more common causes of endogenous Cushing's syndrome in children

Anita Uroić

2005

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atualiza��o Clinical and Molecular Genetics of Primary Pigmented Nodular Adrenocortical Disease

Fabiano Sandrini

2004

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Heterogeneous Clinical Manifestations of Cushing’s Syndrome in a Family with Primary Pigmented Nodular Adrenocortical Disease

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Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X

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Novel Somatic Mutations in the Catalytic Subunit of the Protein Kinase A as a Cause of Adrenal Cushing's Syndrome: A European Multicentric Study

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Nuria Valdés

La Presse Médicale, 2018

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17Q22-24 Chromosomal Losses and Alterations of Protein Kinase a Subunit Expression and Activity in Adrenocorticotropin-Independent Macronodular Adrenal Hyperplasia

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CASE REPORT Open Access PRKAR1A-negative familial Cushing’s syndrome: two case reports

Normayah Kitan

2016

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A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma

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Cushing's Syndrome and Fetal Features Resurgence in Adrenal Cortex–Specific Prkar1a Knockout Mice

Vincent Sapin

PLoS Genetics, 2010

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Primary pigmented nodular adrenocortical disease and Cushing's syndrome

Constantine Stratakis

Arquivos brasileiros de endocrinologia e metabologia, 2007

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Cushing’s Syndrome Secondary to Adrenocorticotropin-Independent Macronodular Adrenocortical Hyperplasia due to Activating Mutations ofGNAS1Gene

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The Journal of Clinical Endocrinology & Metabolism, 2003

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A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

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Children with Cushing’s syndrome: primary pigmented nodular adrenocortical disease should always be suspected

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