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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico

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

artículo científico publicado en 2006

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

artículo científico publicado en 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.

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2015

A genetic and molecular update on adrenocortical causes of Cushing syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

A mouse model for Carney complex

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico

Adrenal cortex and micro-RNAs: An update

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Adrenal function in Smith-Lemli-Opitz syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Alterations of Phosphodiesterases in Adrenocortical Tumors

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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 ⬇️

artículo científico publicado el 1 de diciembre de 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

An update on Cushing syndrome in pediatrics

artículo científico publicado en 2018

Analysis of ARMC5 expression in human tissues

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Anxiety phenotype in mice that overexpress protein kinase A.

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Atypical manifestation of parathyroid carcinoma with late-onset distant metastases

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Blood pressure in pediatric patients with Cushing syndrome

artículo científico publicado en 2009

Body image in adolescents with disorders of steroidogenesis

artículo científico publicado en 2008

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

artículo científico publicado en 2012

Bone mineral density in patients with inherited bone marrow failure syndromes

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Calcified adrenals associated with perinatal adrenal hemorrhage and adrenal insufficiency

artículo científico publicado en 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

artículo científico publicado en 2013

Carney complex and other conditions associated with micronodular adrenal hyperplasias

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Carney complex: an update

artículo científico publicado en 2015

Carney complex: one more entity with skin and bone manifestations

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas

artículo científico publicado en 2017

Characterization of GPR101 transcript structure and expression patterns

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Clinical and molecular genetics of Carney complex

artículo científico publicado en 2003

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

artículo científico publicado en 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.

artículo científico publicado en 2007

Clinical and molecular genetics of primary pigmented nodular adrenocortical disease

artículo científico publicado en 2004

Clinical and molecular genetics of the phosphodiesterases (PDEs).

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates

artículo científico publicado en 2016

Comprehensive analysis of LC/MS data using pseudocolor plots

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Corticotropinoma as a Component of Carney Complex

artículo científico publicado en 2017

Cortisol in the Evaluation of Adrenal Insufficiency

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Cushing syndrome in pediatrics

artículo científico publicado en 2012

Cushing's syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Death in pediatric Cushing syndrome is uncommon but still occurs

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics

artículo científico publicado en 2016

Diagnosis and Management of Hereditary Adrenal Cancer

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Endocrine abnormalities in patients with Fanconi anemia

artículo científico publicado en 2007

Endocrine disorders in Fanconi anemia: recommendations for screening and treatment

artículo científico publicado en 2015

Endocrine side effects of broad-acting kinase inhibitors

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Enlarging hypermetabolic nodule: benign non-functional adrenocortical adenoma

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Failure to Thrive in the Context of Carney Complex

artículo científico publicado en 2017

Familial gastrointestinal stromal tumors and germ-line mutations

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Flushing in (neuro)endocrinology

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2017

Genetics of Cushing's Syndrome

artículo científico publicado en 2018

Genetics of Diabetes Insipidus

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Genetics of gigantism and acromegaly

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation

artículo científico publicado en 2014

Growth hormone and risk for cardiac tumors in Carney complex

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Harvey Cushing Treated the First Known Patient With Carney Complex

artículo científico publicado en 2017

Hematopoietic neoplasms in Prkar2a-deficient mice

artículo científico publicado en 2015

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

artículo científico publicado en 2005

Hereditary syndromes predisposing to endocrine tumors and their skin manifestations

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado el 25 de noviembre de 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Is IGSF1 involved in human pituitary tumor formation?

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Joy and discovery are inseparable from academic commitment ⬇️

artículo científico publicado el 21 de enero de 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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

Kidney Stones as an Underrecognized Clinical Sign in Pediatric Cushing Disease

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Large deletions of the PRKAR1A gene in Carney complex

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

MEN4 and CDKN1B mutations: the latest of the MEN syndromes

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Metabolism and skin diseases

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2010

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

New genetic insights in familial hyperaldosteronism

artículo científico publicado en 2002

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

artículo científico publicado en 2017

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 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).

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Persistent Diabetes Mellitus Postadrenalectomy in Neonatal McCune-Albright Syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Phosphodiesterase 8B and cyclic AMP signaling in the adrenal cortex

artículo científico

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

artículo científico publicado en 2011

Phosphodiesterase sequence variants may predispose to prostate cancer

artículo científico publicado en 2015

Pituitary abnormalities in patients with Fanconi anaemia

artículo científico publicado en 2015

Pituitary gigantism: update on molecular biology and management

artículo científico publicado en 2015

Pituitary pathology in Carney complex patients

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Postoperative testing to predict recurrent Cushing disease in children

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Primary Aldosteronism and ARMC5 Variants

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Primary pigmented nodular adrenocortical disease and Cushing's syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2003

Prkar1a gene knockout in the pancreas leads to neuroendocrine tumorigenesis

artículo científico publicado en 2016

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

artículo científico publicado el 1 de junio de 2010

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

artículo científico publicado en 2016

Protein kinase A and chromosomal stability

artículo científico publicado en 2002

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

artículo científico publicado en 2002

Protein kinase A defects and cortisol-producing adrenal tumors

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2002

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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene

artículo científico publicado en 2016

Pseudotumor cerebri after surgical remission of Cushing's disease

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Rare and unusual endocrine cancer syndromes with mutated genes

artículo científico publicado en 2010

Rare inactivating PDE11A variants associated with testicular germ cell tumors

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Screening for GPR101 defects in pediatric pituitary corticotropinomas

artículo científico publicado en 2016

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

artículo científico publicado en 2002

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Skin manifestations of Cushing's syndrome

artículo científico publicado en 2016

Skin steroidogenesis in health and disease

artículo científico publicado en 2016

Snapin mediates incretin action and augments glucose-dependent insulin secretion

artículo científico publicado en 2011

Solid tumors associated with multiple endocrine neoplasias

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor

artículo científico publicado en 2013

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

The Role of Protein Kinase A in Anxiety Behaviors

artículo científico publicado en 2016

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

artículo científico publicado en 2018

The cAMP pathway and the control of adrenocortical development and growth

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Unraveling the molecular basis of micronodular adrenal hyperplasia

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Virilizing ovarian stromal tumor in a young woman with Carney complex

artículo científico publicado en 2011

Vitamin B12 deficiency in an adolescent girl with polycystic ovarian syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2011

X-linked acrogigantism syndrome: clinical profile and therapeutic responses

artículo científico publicado en 2015

ZNF367 inhibits cancer progression and is targeted by miR-195

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado el 26 de febrero de 2013

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

artículo científico publicado en 2014

“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 ⬇️

artículo científico publicado el 1 de mayo de 2012

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