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List of works by Francesca Schiavi

18F-DOPA PET/CT in the evaluation of hereditary SDH-deficiency paraganglioma-pheochromocytoma syndromes

scientific article published in January 2014

A registry-based study of thyroid paraganglioma: histological and genetic characteristics

scientific article published on 16 January 2015

ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.

scientific article published on 8 October 2015

An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.

scientific article

Are we overestimating the penetrance of mutations in SDHB?

scientific article published in June 2010

Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

scientific article published on 2 January 2007

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

scientific article published on 13 April 2015

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

scientific article

Clinical and genetic aspects of phaeochromocytoma

scientific article

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out

scientific article published on 7 April 2009

Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas

scientific article

Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

scientific article

Concurrent pheochromocytoma and cortical carcinoma of the adrenal gland

scientific article published on 28 October 2010

DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers

scientific article published on 30 March 2015

Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions

scientific article

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

scientific article (publication date: 19 June 2011)

Familial nonsyndromic pheochromocytoma

scientific article published in August 2006

First steps to define murine amniotic fluid stem cell microenvironment.

scientific article

Functional Consequences of Succinate Dehydrogenase Mutations ⬇️

scientific article published on July 1, 2011

Functional and in silico assessment of MAX variants of unknown significance

scientific article

Genetics of pheochromocytomas and paragangliomas

scientific article published on December 2010

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

scientific article published on 10 April 2007

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

scientific article

Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways

scientific article published on 24 June 2013

Is genetic screening indicated in apparently sporadic pheochromocytomas and paragangliomas?

scientific article published on 01 December 2011

Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency

scientific article

Long-term prognosis of patients with pediatric pheochromocytoma.

scientific article published on 16 December 2013

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

scientific article published on 27 March 2012

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

scientific article published on 15 April 2014

Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas

scientific article published on 01 August 2006

Parathyroid scintigraphy in renal hyperparathyroidism: the added diagnostic value of SPECT and SPECT/CT.

scientific article

Peptide receptor radionuclide therapy (PRRT) with 177Lu-DOTATATE in individuals with neck or mediastinal paraganglioma (PGL)

scientific article published on 07 May 2012

Peptide receptor radionuclide therapy in a case of multiple spinal canal and cranial paragangliomas

scientific article published on 13 December 2010

Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1.

scientific article

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

scientific article

Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors

scientific article published on 10 May 2018

Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.

scientific article

Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas

scientific article

Role of SDHAF2 and SDHD in von Hippel–Lindau Associated Pheochromocytomas

Role of ultrasound and color Doppler imaging in the detection of carotid paragangliomas.

scientific article

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

scientific article published in December 2010

Surgical versus conservative management for subclinical Cushing syndrome in adrenal incidentalomas: a prospective randomized study

scientific article

The M235T polymorphism of the angiotensinogen gene in women with polycystic ovary syndrome

scientific article published in November 2005

The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression

scientific article published on 28 March 2012

The pheochromocytoma and paraganglioma syndrome: founder effects and the PGL 1 syndrome

scientific article published on 14 March 2009

The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors

scientific article published on 4 September 2009

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations

scientific article published on 22 April 2015

Von Hippel-Lindau disease: an evaluation of natural history and functional disability

scientific article published on 12 January 2016

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