Lista de obras - Vito Guarnieri - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

Bone involvement in aldosteronism

artículo científico publicado en 2012

CASR gene activating mutations in two families with autosomal dominant hypocalcemia

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2014

Candidate gene study of HOXB1 in autism spectrum disorder

artículo científico publicado el 25 de mayo de 2010

Carboxyl-terminal parathyroid hormone fragments: biologic effects

artículo científico publicado el 1 de julio de 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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms.

artículo científico publicado en 2016

Factors associated with vertebral fracture risk in patients with primary hyperparathyroidism

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

HOXA1 gene variants influence head growth rates in humans

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2010

Sporadic and hereditary primary hyperparathyroidism

artículo científico publicado el 1 de julio de 2011

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

artículo científico publicado en 2006

The microRNA cluster C19MC is deregulated in parathyroid tumours.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Vitamin D status in primary hyperparathyroidism: effect of genetic background.

artículo científico publicado en 2016

Lista de obras de 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

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

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

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

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

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

Bone involvement in aldosteronism

CASR gene activating mutations in two families with autosomal dominant hypocalcemia

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

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

Calcium-sensing receptor and associated diseases.

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

Candidate gene study of HOXB1 in autism spectrum disorder

Carboxyl-terminal parathyroid hormone fragments: biologic effects

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

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

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

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

EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms.

Factors associated with vertebral fracture risk in patients with primary hyperparathyroidism

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

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

HOXA1 gene variants influence head growth rates in humans

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Sporadic and hereditary primary hyperparathyroidism

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

The microRNA cluster C19MC is deregulated in parathyroid tumours.

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

Vitamin D status in primary hyperparathyroidism: effect of genetic background.