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
Mieczysław Szalecki
Endokrynologia Polska
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Clinical and molecular genetics of primary pigmented nodular adrenocortical disease
Fabiano Sandrini
Arquivos Brasileiros de Endocrinologia & Metabologia, 2004
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First Somatic PRKAR1A Defect Associated With Mosaicism for Another PRKAR1A Mutation in a Patient With Cushing Syndrome
Constantine Stratakis
Journal of the Endocrine Society, 2021
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A Large Family with Carney Complex Caused by the S147G PRKAR1A Mutation Shows a Unique Spectrum of Disease Including Adrenocortical Cancer
Constantine Stratakis
The Journal of Clinical Endocrinology & Metabolism, 2012
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APRKAR1AMutation Associated with Primary Pigmented Nodular Adrenocortical Disease in 12 Kindreds
Constantine Stratakis
The Journal of Clinical Endocrinology & Metabolism, 2006
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Somatic PRKACA Mutations: Association With Transition From Pituitary-Dependent to Adrenal-Dependent Cushing Syndrome
Giorgio Arnaldi
The Journal of Clinical Endocrinology & Metabolism, 2019
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Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity
Sotirios Stergiopoulos, Thalia Bei
Cancer research, 2003
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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
Véronique Beauloye
Hormone Research in Paediatrics
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Molecular and Functional Analysis of PRKAR1A and its Locus (17q2224) in Sporadic Adrenocortical Tumors
Fabiano Sandrini
Cancer research, 2003
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Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome
Edra London
Genetics in Medicine, 2020
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Carney complex due to a novel pathogenic variant in the PRKAR1A gene – a case report
Cíntia Castro-Correia
Journal of Pediatric Endocrinology and Metabolism, 2019
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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
chien-te lee
Journal of Steroids & Hormonal Science, 2014
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PRKAR1A-negative familial Cushing's syndrome: two case reports
Normayah Kitan
Journal of medical case reports, 2015
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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
Luciana Brito
Arquivos Brasileiros de Endocrinologia & Metabologia, 2008
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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
Giorgio Arnaldi
The Journal of Clinical Endocrinology & Metabolism, 2014
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Genetics of micronodular adrenal hyperplasia and Carney complex
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
Fabiano Sandrini
The Journal of clinical endocrinology and metabolism, 2006
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Genetic Alterations in Benign Adrenal Tumors
Constantine Stratakis
Biomedicines
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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
Neda Behzadnia
Archives of endocrinology and metabolism, 2021
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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
MARIA CANDIDA BARISSON VILLARES FRAGOSO
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
Christoforos Giatzakis
Nature Genetics, 2006
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Children with Cushing’s syndrome: primary pigmented nodular adrenocortical disease should always be suspected
Suzan Goldman
Pituitary, 2010
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