Search filters

List of works by Vito Guarnieri

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

article

A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome

scientific article published on 12 August 2014

A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria

scientific article

A rare S33C mutation of CTNNB1 encoding β-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort

article

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism

scientific article (publication date: 15 February 2004)

Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor

scientific article published in November 2004

Bone involvement in aldosteronism

scientific article published on 01 October 2012

CASR gene activating mutations in two families with autosomal dominant hypocalcemia

scientific article

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort

article by Vito Guarnieri et al published 18 September 2012 in Cellular Oncology

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years

scientific article published on 17 February 2010

Calcium-sensing receptor and associated diseases.

scientific article published on 07 October 2009

Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population

scientific article

Candidate gene study of HOXB1 in autism spectrum disorder

scientific article published on 25 May 2010

Carboxyl-terminal parathyroid hormone fragments: biologic effects

scientific article published on July 1, 2011

Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes

scientific article

Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.

scientific article

Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.

scientific article

Differential expression of microRNAs in human parathyroid carcinomas compared with normal parathyroid tissue

scientific article

EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms.

scientific article

Factors associated with vertebral fracture risk in patients with primary hyperparathyroidism

scientific article published on 25 June 2014

Filamin A is reduced and contributes to the CASR sensitivity in human parathyroid tumors.

scientific article published on 21 November 2016

Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer

scientific article published in June 2011

HOXA1 gene variants influence head growth rates in humans

scientific article published in April 2007

Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management.

scientific article published in June 2005

Hepatitis delta virus induces specific DNA methylation processes in Huh-7 liver cancer cells

scientific article published on 21 March 2013

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene

scientific article

Identification of two novel mutations and of a novel critical region in the KRIT1 gene

scientific article published on 17 October 2006

Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts

scientific article

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

scientific article

Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis

article

Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions.

scientific article

Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism

article

Primary Hyperparathyroidism and the Presence of Kidney Stones Are Associated with Different Haplotypes of the Calcium-Sensing Receptor

scientific article published on 03 October 2006

Primary hyperparathyroidism and Klinefelter's syndrome in a young man.

scientific article

Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma

scientific article published on 27 April 2020

Re: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations

scientific article published on 01 November 2008

Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene

article

Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR

scientific article

Sporadic and hereditary primary hyperparathyroidism

scientific article published on July 1, 2011

Supratentorial cerebral cavernous malformations: clinical, surgical, and genetic involvement.

scientific article

The microRNA cluster C19MC is deregulated in parathyroid tumours.

scientific article published on 26 July 2012

Tumour-associated fibroblasts contribute to neoangiogenesis in human parathyroid neoplasia.

scientific article published on 16 December 2014

Vitamin D status in primary hyperparathyroidism: effect of genetic background

scientific article published on 6 May 2016

Paulina is supported by:

About Paulina

Help