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List of works by Constantine A Stratakis

(111)In-octreotide scintigraphy for identification of metastatic medullary thyroid carcinoma in children and adolescents

scientific article published on 7 December 2011

11-Deoxycortisol may be superior to cortisol in confirming a successful adrenal vein catheterization without cosyntropin: a pilot study.

scientific article published on 27 April 2017

15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas

scientific article published on 25 June 2015

17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia

scientific article

3D Volumetric Measurements of GH Secreting Adenomas Correlate with Baseline Pituitary Function, Initial Surgery Success Rate, and Disease Control

scientific article published on 4 May 2017

8-Cl-Adenosine Inhibits Proliferation and Causes Apoptosis in B-Lymphocytes via Protein Kinase A-Dependent and Independent Effects: Implications for Treatment of Carney Complex-Associated Tumors.

scientific article

8-Cl-adenosine inhibits proliferation and causes apoptosis in B-lymphocytes via protein kinase A-dependent and independent effects: implications for treatment of Carney complex-associated tumors

scientific article published on 22 September 2009

A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds

scientific article published on 7 February 2006

A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex

scientific article published on 23 April 2008

A gender-dependent analysis of Cushing's disease in childhood: pre- and postoperative follow-up.

scientific article published on 2 February 2015

A genetic and molecular update on adrenocortical causes of Cushing syndrome

scientific article published on 11 March 2016

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

scientific article (publication date: July 2006)

A giant? Think of genetics: growth hormone-producing adenomas in the young are almost always the result of genetic defects

scientific article published on 9 June 2015

A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer

scientific article published on 23 November 2011

A mouse model for Carney complex

scientific article published in November 2004

A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations

scientific article

A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension

scientific article

A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site

scientific article

A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report

scientific article published on 28 March 2007

ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma

scientific article

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences

scientific article

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome

scientific article

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad

scientific article

Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes

scientific article

Abstract 2963: Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor

Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations

scientific article published on 18 January 2012

Acute vs chronic exposure to high fat diet leads to distinct regulation of PKA.

scientific article published on 18 April 2017

Adrenal cancer in 2013: Time to individualize treatment for adrenocortical cancer?

scientific article published on 07 January 2014

Adrenal cortex and micro-RNAs: An update

scientific article published on 13 October 2010

Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome

scientific article published on August 2013

Adrenal function in Smith-Lemli-Opitz syndrome.

scientific article published on 11 October 2011

Adrenal histologic findings show no difference in clinical presentation and outcome in primary hyperaldosteronism

scientific article published on 23 October 2012

Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population

scientific article published on December 2006

Adrenal malignant melanoma masquerading as a pheochromocytoma in a patient with a history of a multifocal papillary and medullary thyroid carcinoma.

scientific article published in April 2016

Advances in the Diagnosis, Treatment, and Molecular Genetics of Pituitary Adenomas in Childhood.

scientific article published on February 2009

Alterations of Phosphodiesterases in Adrenocortical Tumors

scientific article

Altered amygdala and hippocampus function in adolescents with hypercortisolemia: a functional magnetic resonance imaging study of Cushing syndrome

scientific article

Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone

scientific article

An aroma of complexity: how the unique genetics of aromatase (CYP19A1) explain diverse phenotypes from hens and hyenas to human gynecomastia, and testicular and other tumors

scientific article published on December 2013

An assessment of petrosal sinus sampling for localization of pituitary microadenomas in children with Cushing disease

scientific article

An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits

scientific article

An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.

scientific article published in March 2018

An unusual presentation of pediatric Cushing disease: recurrent corticotropinoma of the posterior pituitary lobe

scientific article published on June 2010

An update on Cushing syndrome in pediatrics

scientific article published on 9 April 2018

Analysis of ARMC5 expression in human tissues

scientific article

Anterior pituitary adenomas: inherited syndromes, novel genes and molecular pathways

scientific article

Anxiety phenotype in mice that overexpress protein kinase A.

scientific article published on 22 October 2011

Anxiety-like behavior and other consequences of early life stress in mice with increased protein kinase A activity

scientific article published on 3 April 2018

Aortic pulse wave velocity in children with Cushing syndrome: A window into a marker of early cardiovascular disease

Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2.

scientific article

Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families

scientific article

Atypical manifestation of parathyroid carcinoma with late-onset distant metastases

scientific article published on 28 October 2017

Basic molecular techniques for the detection of single nucleotide polymorphisms: genome-wide applications in search for endocrine tumor related genes

scientific article published in January 2009

Benign hormone-secreting adenoma within a larger adrenocortical mass showing intensely increased activity on 18F-FDG PET/CT.

scientific article published on 6 May 2016

Bilateral Adrenal Hyperplasia as a Possible Mechanism for Hyperandrogenism in Women With Polycystic Ovary Syndrome

scientific article published on 23 June 2016

Blood pressure in pediatric patients with Cushing syndrome

scientific article published on 17 March 2009

Body image in adolescents with disorders of steroidogenesis

scientific article

Bone mineral density in children and young adults with neurofibromatosis type 1

scientific article

Bone mineral density in patients with inherited bone marrow failure syndromes

scientific article published on 9 May 2017

CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.

scientific article published on 2 November 2015

CT findings of primary pigmented nodular adrenocortical disease: rare cause of ACTH-independent Cushing syndrome

scientific article published in June 2010

Calcified adrenals associated with perinatal adrenal hemorrhage and adrenal insufficiency

scientific article published in March 2007

Carney Complex, Peutz-Jeghers Syndrome, Cowden Disease, and Bannayan-Zonana Syndrome Share Cutaneous and Endocrine Manifestations, But Not Genetic Loci

Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics

scientific article published on 05 September 2013

Carney complex and other conditions associated with micronodular adrenal hyperplasias

scientific article

Carney complex: A familial lentiginosis predisposing to a variety of tumors

scientific article published on 10 December 2016

Carney complex: an update

scientific article

Carney complex: one more entity with skin and bone manifestations

scientific article published in January 2015

Carney triad can be (rarely) associated with germline succinate dehydrogenase defects

scientific article published on 15 July 2015

Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria

scientific article published on 25 March 2015

Case 1: Poor Growth With Presence of a Pituitary Lesion in an 11-year-old Boy.

scientific article published in January 2017

Cases of Psychiatric Morbidity in Pediatric Patients After Remission of Cushing Syndrome

scientific article published on 29 March 2016

Celecoxib reduces glucocorticoids in vitro and in a mouse model with adrenocortical hyperplasia

scientific article

Celecoxib treatment of fibrous dysplasia (FD) in a human FD cell line and FD-like lesions in mice with protein kinase A (PKA) defects

scientific article published on 4 August 2016

Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas

scientific article

Characterization of GPR101 transcript structure and expression patterns

scientific article published on 9 June 2016

Circadian Plasma Cortisol Measurements Reflect Severity of Hypercortisolemia in Children with Different Etiologies of Endogenous Cushing Syndrome.

scientific article

Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors

scientific article published on 09 June 2009

Clinical and molecular genetics of Carney complex

scientific article

Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors

scientific article published on March 2008

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

scientific article

Clinical and molecular genetics of primary pigmented nodular adrenocortical disease

scientific article

Clinical and molecular genetics of the phosphodiesterases (PDEs).

scientific article published on 05 December 2013

Clinical, Diagnostic, and Treatment Characteristics of -Related Metastatic Pheochromocytoma and Paraganglioma

Coagulation Profile Dynamics in Pediatric Patients with Cushing Syndrome: A Prospective, Observational Comparative Study

scientific article published on 2 August 2016

Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad

scientific article

Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst.

scientific article published in January 2017

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates

scientific article published on 18 April 2016

Comprehensive analysis of LC/MS data using pseudocolor plots

scientific article

Consequences of adrenal venous sampling in primary hyperaldosteronism and predictors of unilateral adrenal disease

scientific article

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome

scientific article published on 26 February 2014

Corticotropinoma as a Component of Carney Complex

scientific article published on 30 May 2017

Cortisol in the Evaluation of Adrenal Insufficiency

scientific article published in August 2016

Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty

scientific article

Cover Image

Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients

scientific article published on 21 November 2016

Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin- independent Cushing syndrome)

scientific article

Cushing syndrome in pediatrics

scientific article

Cushing's syndrome

scientific article (publication date: 29 August 2015)

Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice

scientific article

Cushing's syndrome secondary to isolated micronodular adrenocortical disease (iMAD) associated with rapid onset weight gain and negative abdominal MRI findings in a 3 year old male

scientific article

Cyclic 3',5'-adenosine monophosphate (cAMP) signaling in the anterior pituitary gland in health and disease

scientific article

Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition

scientific article published on 14 June 2013

Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease

scientific article (publication date: June 2002)

Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity?

scientific article published in July 2004

Cyclopes and Giants: From Homer's Odyssey to contemporary genetic diagnosis

scientific article

DNA methylation profiling identifies global methylation differences and markers of adrenocortical tumors

scientific article

Death in pediatric Cushing syndrome is uncommon but still occurs

scientific article

Decreased lymphocytes and increased risk for infection are common in endogenous pediatric Cushing syndrome

scientific article published on 6 December 2017

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

scientific article

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing

scientific article published on 20 December 2013

Depletion of type IA regulatory subunit (RIalpha) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency

scientific article published on 8 September 2006

Detection of adrenocorticotropin-secreting pituitary adenomas by magnetic resonance imaging in children and adolescents with cushing disease

scientific article published on 7 June 2005

Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD).

scientific article

Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics

scientific article published on June 2016

Diagnosis and Management of Hereditary Adrenal Cancer

scientific article published on January 2016

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

scientific article

Diagnostic tests for children who are referred for the investigation of Cushing syndrome

scientific article

Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications

scientific article

Does somatostatin have a role in the regulation of cortisol secretion in primary pigmented nodular adrenocortical disease (ppnad)? a clinical and in vitro investigation

scientific article

Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors

scientific article published in December 2004

E pluribus unum? The main protein kinase A catalytic subunit (PRKACA), a likely oncogene, and cortisol-producing tumors

scientific article published on October 2014

Earlier post-operative hypocortisolemia may predict durable remission from Cushing's disease

scientific article published on 12 January 2018

Ectopic ACTH and CRH Co-secreting Tumor Localized by 68Ga-DOTA-TATE PET/CT

scientific article published on July 2015

Ectopic adrenocorticotropic hormone and corticotropin-releasing hormone co-secreting tumors in children and adolescents causing cushing syndrome: a diagnostic dilemma and how to solve it

scientific article

Ectopic thymus presenting as a thyroid nodule in a patient with the Carney complex

scientific article

Effects of Cushing disease on bone mineral density in a pediatric population

scientific article

Endocrine abnormalities in patients with Fanconi anemia

scientific article

Endocrine disorders in Fanconi anemia: recommendations for screening and treatment

scientific article

Endocrine side effects of broad-acting kinase inhibitors

scientific article

Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes

scientific article

Enlarging hypermetabolic nodule: benign non-functional adrenocortical adenoma

scientific article

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

scientific article published in May 2015

Extensive and largely reversible ischemic cerebral infarctions in a prepubertal child with hypertension and Cushing disease

scientific article published on January 2009

FDG PET/CT Scan and Functional Adrenal Tumors: A Pilot Study for Lateralization

scientific article

Facial Plethora: Modern Technology for Quantifying an Ancient Clinical Sign and Its Use in Cushing Syndrome

scientific article

Facial metrics in children with corticotrophin-producing pituitary adenomas suggest abnormalities in midface development

scientific article

Failure to Thrive in the Context of Carney Complex

scientific article published on 21 November 2017

Familial gastrointestinal stromal tumors and germ-line mutations.

scientific article

Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A).

scientific article

Familial pituitary apoplexy as the only presentation of a novel AIP mutation

scientific article published on 11 September 2013

Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects

scientific article published on 10 March 2016

Flushing in (neuro)endocrinology

scientific article published on 21 November 2016

Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype

scientific article

Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion

scientific article published on 13 June 2016

Functional imaging of SDHx-related head and neck paragangliomas: comparison of 18F-fluorodihydroxyphenylalanine, 18F-fluorodopamine, 18F-fluoro-2-deoxy-D-glucose PET, 123I-metaiodobenzylguanidine scintigraphy, and 111In-pentetreotide scintigraphy

scientific article

Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors

scientific article published on 23 June 2009

Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases

scientific article published on January 2010

Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators

scientific article (publication date: 26 February 2004)

Genetics and the New (Precision) Medicine and Endocrinology: In Medias Res or Ab Initio?

scientific article

Genetics of Cushing's Syndrome

scientific article published in June 2018

Genetics of Diabetes Insipidus

scientific article published on 28 February 2017

Genetics of Hypertension in African Americans and Others of African Descent ⬇️

article

Genetics of adrenal tumors associated with Cushing's syndrome: a new classification for bilateral adrenocortical hyperplasias

scientific article published on November 2007

Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors

scientific article published on 29 May 2007

Genetics of gigantism and acromegaly

scientific article published on 10 August 2016

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

scientific article published on June 2015

Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes.

scientific article published on 2 October 2014

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

scientific article

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation

scientific article

Growth hormone and risk for cardiac tumors in Carney complex

scientific article published on 18 July 2016

Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a+/- mice

scientific article

Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels

scientific article

Harvey Cushing Treated the First Known Patient With Carney Complex

scientific article published on 28 September 2017

Hematopoietic neoplasms in Prkar2a-deficient mice

scientific article

Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation

scientific article

Hereditary syndromes predisposing to endocrine tumors and their skin manifestations

scientific article published on 10 December 2016

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort

scientific article

How does cAMP/protein kinase A signaling lead to tumors in the adrenal cortex and other tissues? ⬇️

scientific article published on November 25, 2010

Hypocalcemia in a patient with osteosarcoma and 22q11.2 deletion syndrome

scientific article published on August 2008

Hypodense nodularity on computed tomography: novel imaging and pathology of micronodular adrenocortical hyperplasia associated with myelolipomatous changes

scientific article

Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures

scientific article

Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours

scientific article

In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay

scientific article

In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex

scientific article published on 28 December 2011

Incidence of Autoimmune and Related Disorders After Resolution of Endogenous Cushing Syndrome in Children

scientific article published on 19 February 2018

Increased glucocorticoid receptor expression in sepsis is related to heat shock proteins, cytokines, and cortisol and is associated with increased mortality

scientific article published on 21 February 2017

Integrated analysis of genome-wide methylation and gene expression shows epigenetic regulation of CYP11B2 in aldosteronomas

scientific article published on 11 December 2013

Integrated genomic analysis of nodular tissue in macronodular adrenocortical hyperplasia: progression of tumorigenesis in a disorder associated with multiple benign lesions

scientific article

Interaction of AIP with protein kinase A (cAMP-dependent protein kinase).

scientific article

Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study.

scientific article published in March 2010

Is IGSF1 involved in human pituitary tumor formation?

scientific article

Isolated Large Cell Calcifying Sertoli Cell Tumor in a Young Boy, not Associated with Peutz-Jeghers Syndrome or Carney Complex.

scientific article

Joy and discovery are inseparable from academic commitment ⬇️

scientific article published on January 21, 2013

Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia

scientific article published on January 2010

KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome

scientific article

KiSS-1/G protein-coupled receptor 54 metastasis suppressor pathway increases myocyte-enriched calcineurin interacting protein 1 expression and chronically inhibits calcineurin activity

scientific article published on 5 July 2005

Kidney Stones as an Underrecognized Clinical Sign in Pediatric Cushing Disease

scientific article published on 15 December 2015

Known VDR polymorphisms are not associated with bone mineral density measures in pediatric Cushing disease

scientific article

Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features

scientific article published on January 2012

Large deletions of the PRKAR1A gene in Carney complex

scientific article published on January 2008

Large pituitary gland with an expanding lesion in the context of neurofibromatosis 1.

scientific article published on 25 October 2017

Large-cell calcifying Sertoli cell tumors of the testes in pediatrics

scientific article

Lipofuscin Accumulation in Cortisol-Producing Adenomas With and Without PRKACA Mutations.

scientific article published on 23 August 2017

Long-Term Outcome of Bilateral Laparoscopic Adrenalectomy Measured by Disease-Specific Questionnaire in a Unique Group of Patients with Cushing's Syndrome.

scientific article published on 13 May 2015

Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions

scientific article published in November 2007

MEN4 and CDKN1B mutations: the latest of the MEN syndromes

scientific article

MON-433 The Spectrum Of Growth Hormone Excess In Carney Complex: Characterizing A Common Finding In A Rare Syndrome.

scientific article

Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation

scientific article

Management of primary aldosteronism in patients with adrenal hemorrhage following adrenal vein sampling: A brief review with illustrative cases

scientific article

Massive neonatal adrenal enlargement due to cytomegaly, persistence of the transient cortex, and hyperplasia of the permanent cortex: findings in Cushing syndrome associated with hemihypertrophy

scientific article

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue

scientific article published in July 2015

Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?

scientific article published in October 2017

Metabolism and skin diseases

scientific article

Metabolome profiling by HRMAS NMR spectroscopy of pheochromocytomas and paragangliomas detects SDH deficiency: clinical and pathophysiological implications

scientific article

Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations

scientific article published on 3 October 2011

MicroRNA signature in massive macronodular adrenocortical disease and implications for adrenocortical tumourigenesis

scientific article

MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling

scientific article

Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysio

scientific article

Molecular genetics of the cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesis

scientific article published on April 2007

Mouse Prkar1a haploinsufficiency leads to an increase in tumors in the Trp53+/- or Rb1+/- backgrounds and chemically induced skin papillomas by dysregulation of the cell cycle and Wnt signaling

scientific article

Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years

scientific article published on 09 October 2018

Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update

scientific article

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas

scientific article published on 31 October 2007

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes

scientific article published on 17 March 2009

Myxoma of the ear lobe in a 23-month-old girl with Carney complex

scientific article published on September 2011

Neuroendocrine ACTH-producing tumor of the thymus--experience with 12 patients over 25 years

scientific article

New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors

scientific article

New genetic insights in familial hyperaldosteronism

scientific article

Normalized early post-operative cortisol and ACTH values predict nonremission after surgery for Cushing's disease

scientific article

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome

scientific article

OR24-6 Non-syndromic Cushing's Disease Due To CDKN1B Mutations: Novel Mutations And Phenotypic Features In A Large Pediatric Cohort.

scientific article published on 30 April 2019

OR31-6 Insulin Sensitivity and Pancreatic Beta-Cell Function in Patients with Primary Aldosteronism.

scientific article

Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia

scientific article published on June 2008

PDE 2015: cAMP Signaling, Protein Kinase A (PKA) and Phosphodiesterases (PDEs): How Genetics Changed the Way We Look at One of the Most Studied Signaling Pathways

scientific article published on 20 April 2017

PKA inhibits WNT signalling in adrenal cortex zonation and prevents malignant tumour development

scientific article published on 14 September 2016

PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex

scientific article published on 28 March 2006

Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association

scientific article (publication date: November 2011)

Pathology and molecular genetics of the pituitary gland in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex).

scientific article published in January 2004

Patterns of thyroid hormone levels in pediatric medullary thyroid carcinoma patients on vandetanib therapy

scientific article published on 16 February 2015

Pediatric Cushing disease: disparities in disease severity and outcomes in the Hispanic and African-American populations

scientific article published on 19 April 2017

Persistent Diabetes Mellitus Postadrenalectomy in Neonatal McCune-Albright Syndrome

scientific article published on 21 November 2017

Phosphodiesterase 11A (PDE11A) Genetic Variants May Increase Susceptibility to Prostatic Cancer.

scientific article

Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors

scientific article

Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors

scientific article

Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer

scientific article

Phosphodiesterase 8B and cyclic AMP signaling in the adrenal cortex

scientific article published on 14 May 2015

Phosphodiesterase function and endocrine cells: links to human disease and roles in tumor development and treatment

scientific article published on 31 October 2011

Phosphodiesterase sequence variants may predispose to prostate cancer

scientific article published on 15 May 2015

Pituitary abnormalities in patients with Fanconi anaemia

scientific article

Pituitary gigantism: update on molecular biology and management

scientific article published on 14 November 2015

Pituitary pathology in Carney complex patients

scientific article

Pituitary stalk lesion in a 13-year-old female ⬇️

scientific article published on March 2014

Pituitary tumors in childhood: update of diagnosis, treatment and molecular genetics

scientific article published on April 2008

Post-operative growth is different in various forms of pediatric Cushing's syndrome

scientific article

Postoperative Diabetes Insipidus and Hyponatremia in Children after Transsphenoidal Surgery for Adrenocorticotropin Hormone and Growth Hormone Secreting Adenomas

scientific article published on 30 January 2018

Postoperative testing to predict recurrent Cushing disease in children

scientific article

Potential utility of FLAIR in MRI-negative Cushing's disease.

scientific article

Primary Aldosteronism and ARMC5 Variants

scientific article published on 30 March 2015

Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndrome

scientific article

Primary pigmented nodular adrenocortical disease and Cushing's syndrome

scientific article

Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A

scientific article published on 05 February 2007

Primary pigmented nodular adrenocortical disease: paradoxical responses of cortisol secretion to dexamethasone occur in vitro and are associated with increased expression of the glucocorticoid receptor

scientific article published in August 2003

Prkar1a gene knockout in the pancreas leads to neuroendocrine tumorigenesis

scientific article published in November 2016

Prologue to the volume: Endocrine tumors and their genetics, a perspective ⬇️

scientific article published on June 1, 2010

Protein Kinase A and Anxiety-Related Behaviors: A Mini-Review

scientific article

Protein kinase A and chromosomal stability

scientific article

Protein kinase A and tumorigenicity: the example of micronodular adrenocortical hyperplasia and Carney complex

scientific article published in November 2002

Protein kinase A defects and cortisol-producing adrenal tumors

scientific article

Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors

scientific article

Protein kinase A regulates caspase-1 via Ets-1 in bone stromal cell-derived lesions: a link between cyclic AMP and pro-inflammatory pathways in osteoblast progenitors

scientific article published on 11 October 2010

Protein kinase A signaling: "cross-talk" with other pathways in endocrine cells

scientific article

Protein kinase A-independent inhibition of proliferation and induction of apoptosis in human thyroid cancer cells by 8-Cl-adenosine

scientific article

Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2.

scientific article

Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene

scientific article

Pseudotumor cerebri after surgical remission of Cushing's disease

scientific article

Puberty and plexiform neurofibroma tumor growth in patients with neurofibromatosis type I.

scientific article published on 08 December 2013

Quality of life in children and adolescents 1-year after cure of Cushing syndrome: a prospective study

scientific article published on 17 December 2008

RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer

scientific article published on April 2008

Rare and unusual endocrine cancer syndromes with mutated genes

scientific article

Rare inactivating PDE11A variants associated with testicular germ cell tumors

scientific article published on December 2015

Recovery of the hypothalamic-pituitary-adrenal axis in children and adolescents after surgical cure of Cushing's disease

scientific article published on 7 March 2012

Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented

scientific article

Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome

scientific article

Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer

scientific article published in October 2002

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome

scientific article

Reversible posterior encephalopathy syndrome associated with micronodular adrenocortical disease and Cushing syndrome

scientific article

Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation

scientific article published in September 2005

Role of Phosphodiesterases on the Function of Aryl Hydrocarbon Receptor-Interacting Protein (AIP) in the Pituitary Gland and on the Evaluation of AIP Gene Variants

scientific article

Role of nonselective cation channels in spontaneous and protein kinase A-stimulated calcium signaling in pituitary cells

scientific article

SAT-350 Comparative Proteomic Analysis of Various Forms of Bilateral Adrenocortical Hyperplasia.

scientific article published on 30 April 2019

SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors

scientific article

SPECT and 18F-FDG PET/CT imaging of multiple paragangliomas and a growth hormone-producing pituitary adenoma as phenotypes from a novel succinate dehydrogenase subunit D mutation

scientific article published in January 2014

Schmorl Nodes Can Cause Increased 68Ga DOTATATE Activity on PET/CT, Mimicking Metastasis in Patients With Neuroendocrine Malignancy

scientific article published on 11 November 2015

Screening for GPR101 defects in pediatric pituitary corticotropinomas

scientific article

Selective loss of MEG3 expression and intergenic differentially methylated region hypermethylation in the MEG3/DLK1 locus in human clinically nonfunctioning pituitary adenomas

scientific journal article

Sequence analysis of the PRKAR1A gene in sporadic somatotroph and other pituitary tumours

scientific article published in October 2002

Serial analysis of gene expression in adrenocortical hyperplasia caused by a germline PRKAR1A mutation

scientific article published on 8 November 2005

Severe obesity confounds the interpretation of low-dose dexamethasone test combined with the administration of ovine corticotrophin-releasing hormone in childhood Cushing syndrome

scientific article published on 26 August 2008

Short stature in partially corrected X-linked severe combined immunodeficiency--suboptimal response to growth hormone

scientific article

Skeletal maturation in children with Cushing syndrome is not consistently delayed: the role of corticotropin, obesity, and steroid hormones, and the effect of surgical cure

scientific article published on 10 January 2014

Skin manifestations of Cushing's syndrome

scientific article published on 10 December 2016

Skin steroidogenesis in health and disease

scientific article

Snapin mediates incretin action and augments glucose-dependent insulin secretion

scientific article

Solid tumors associated with multiple endocrine neoplasias

scientific article

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

scientific article

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease

scientific article published on 12 May 2017

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

scientific article

Stromal, fibrous, and fatty gastrointestinal tumors in a patient with a PDGFRA gene mutation

scientific article (publication date: September 2008)

Studies of mice with cyclic AMP-dependent protein kinase (PKA) defects reveal the critical role of PKA's catalytic subunits in anxiety

scientific article published on 15 March 2016

Successful Treatment of Estrogen Excess in Primary Bilateral Macronodular Adrenocortical Hyperplasia with Leuprolide Acetate

scientific article published on 28 November 2017

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

scientific article published on 14 December 2011

Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome

scientific article

Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects?

scientific article published on 30 October 2012

Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl

scientific article

Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor

scientific article

Superiority of 68Ga-DOTATATE over 18F-FDG and anatomic imaging in the detection of succinate dehydrogenase mutation (SDHx )-related pheochromocytoma and paraganglioma in the pediatric population.

scientific article published on 4 December 2017

Talc Pleurodesis With Intense 18F-FDG Activity But No 68Ga-DOTA-TATE Activity on PET/CT.

scientific article

Targeted deletion of Prkar1a reveals a role for protein kinase A in mesenchymal-to-epithelial transition

scientific article

The Catalytic Subunit of PKA Affects Energy Balance and Catecholaminergic Activity

article

The Effects of SOM230 on Cell Proliferation and Adrenocorticotropin Secretion in Human Corticotroph Pituitary Adenomas

The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease

scientific article published on 5 May 2015

The Role of Protein Kinase A in Anxiety Behaviors

scientific article published on 4 March 2016

The Spectrum of Thyroid Gland Pathology in Carney Complex: The Importance of Follicular Carcinoma

scientific article published in May 2018

The cAMP pathway and the control of adrenocortical development and growth

scientific article published on 15 October 2011

The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation

scientific article

The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations

scientific article published on 16 July 2014

The glucocorticoid receptor and its expression in the anterior pituitary and the adrenal cortex: a source of variation in hypothalamic-pituitary-adrenal axis function; implications for pituitary and adrenal tumors

scientific article published on November 2011

The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits

scientific article published on 21 April 2009

The postoperative basal cortisol and CRH tests for prediction of long-term remission from Cushing's disease after transsphenoidal surgery

scientific article

The size of the primary tumor and age at initial diagnosis are independent predictors of the metastatic behavior and survival of patients with SDHB-related pheochromocytoma and paraganglioma: a retrospective cohort study

scientific article

The transcriptome that mediates increased cyclic adenosine monophosphate signaling in PRKAR1A defects and other settings

scientific article published on July 2011

The use of positron emission tomography-computed tomography scan in the evaluation of a patient with Carney complex

scientific article published on August 2008

Ultra-structural identification of interstitial cells of Cajal in the zebrafish Danio rerio

scientific article published on 25 May 2012

Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma

scientific article

Unraveling the molecular basis of micronodular adrenal hyperplasia

scientific article published on June 2008

Use of aromatase inhibitors in large cell calcifying sertoli cell tumors: effects on gynecomastia, growth velocity, and bone age

scientific article

Virilizing ovarian stromal tumor in a young woman with Carney complex

scientific article

Vitamin B12 deficiency in an adolescent girl with polycystic ovarian syndrome

scientific article

What is the best criterion for the interpretation of adrenal vein sample results in patients with primary hyperaldosteronism?

scientific article

X-linked acrogigantism syndrome: clinical profile and therapeutic responses

scientific article

ZNF367 inhibits cancer progression and is targeted by miR-195

scientific article

ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion

scientific article

cAMP/PKA signaling defects in tumors: Genetics and tissue-specific pluripotential cell-derived lesions in human and mouse ⬇️

scientific article published on February 26, 2013

mTOR pathway is activated by PKA in adrenocortical cells and participates in vivo to apoptosis resistance in primary pigmented nodular adrenocortical disease (PPNAD).

scientific article

“Patients Can Have as Many Gene Variants as They Damn Well Please”: Why Contemporary Genetics Presents Us Daily with a Version of Hickam's Dictum ⬇️

scientific article published on May 1, 2012

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