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List of works by Gianluca Occhi

A constitutive active MAPK/ERK pathway due to BRAFV600E positively regulates AHR pathway in PTC.

scientific article published on 16 September 2015

A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype

scientific article published on 19 April 2016

A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.

scientific article

A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy

scientific article published on 17 November 2018

AHR over-expression in papillary thyroid carcinoma: clinical and molecular assessments in a series of Italian acromegalic patients with a long-term follow-up

scientific article

Acromegaly Is More Severe in Patients With AHR or AIP Gene Variants Living in Highly Polluted Areas.

scientific article published on 10 March 2016

Activation of the dopamine receptor type-2 (DRD2) promoter by 9-cis retinoic acid in a cellular model of Cushing's disease mediates the inhibition of cell proliferation and ACTH secretion without a complete corticotroph-to-melanotroph transdifferent

scientific article

Adrenal nodules in patients with Cushing's disease: prevalence, clinical significance and follow-up

scientific article published on 16 November 2010

An analysis of different therapeutic options in patients with Cushing's syndrome due to bilateral macronodular adrenal hyperplasia: a single-centre experience

scientific article published on 27 March 2015

Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.

scientific article published on 27 January 2016

Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes

scientific article published on 01 January 2003

Assessment of glucocorticoid therapy with salivary cortisol in secondary adrenal insufficiency

scientific article published on 3 October 2012

Characterization of a novel human gene containing ANK repeats and ARM domains.

scientific article published in May 2004

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.

scientific article

Gonadotropin secreting pituitary adenoma associated with erythrocytosis: case report and literature review.

scientific article

Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy

scientific article published on 28 July 2015

Identification and characterization of heart-specific splicing of human neurexin 3 mRNA (NRXN3).

scientific article

In vivo delivery of naked antisense oligos in aged mdx mice: analysis of dystrophin restoration in skeletal and cardiac muscle.

scientific article published on 3 July 2008

Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients

scientific article published in October 2017

New insight into the hypercoagulability of Cushing's syndrome

scientific article published on 08 February 2011

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

scientific article published on 5 May 2010

Paradoxical GH increase during OGTT is associated to first-generation somatostatin analogs responsiveness in acromegaly

scientific article published on 01 March 2019

Performance of four models for eye color prediction in an Italian population sample

scientific article published on 11 March 2019

Performance of salivary cortisol in the diagnosis of Cushing's syndrome, adrenal incidentaloma, and adrenal insufficiency

scientific article published on 01 June 2013

Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia

scientific article

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1

article

Silent gonadotroph pituitary neuroendocrine tumor in a patient with tuberous sclerosis complex: evaluation of a possible molecular link

scientific article published on 23 August 2018

Somatostatin analogues increase AIP expression in somatotropinomas, irrespective of Gsp mutations.

scientific article published on 16 September 2013

Temozolomide and pasireotide treatment for aggressive pituitary adenoma: expertise at a tertiary care center

scientific article

The GIP/GIPR axis is functionally linked to GH-secretion increase in a significant proportion of gsp- somatotropinomas.

scientific article published on 8 February 2017

The Glucose-Dependent Insulinotropic Polypeptide Receptor is Overexpressed Amongst GNAS1 Mutation-Negative Somatotropinomas and Drives Growth Hormone (GH)-Promoter Activity in GH3 Cells

scientific article published on July 1, 2011

The pathogenic role of the GIP/GIPR axis in human endocrine tumors: emerging clinical mechanisms beyond diabetes

scientific article published on 01 March 2020

The usefulness of combined biochemical tests in the diagnosis of Cushing's disease with negative pituitary magnetic resonance imaging

scientific article published on 01 February 2007

Venous thromboembolism in patients with Cushing's syndrome: need of a careful investigation of the prothrombotic risk profile.

scientific article published in June 2013