Lista de obras - Giovanna Floridia - Dominio Público Uruguay

A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N

artículo científico publicado en 2003

A neocentromere in the DAZ region of the human Y chromosome

article

A new polymorphism in the flanking region of human VAMP2 and hPer1 genes.

artículo científico publicado en 2002

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

artículo científico publicado en 1997

Chromosomal alterations detected by comparative genomic hybridization in nonfunctioning endocrine pancreatic tumors

artículo científico publicado en 2005

Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels

scientific article published on 01 January 1995

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

artículo científico publicado en 1993

Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring.

artículo científico publicado en 2016

From Experimental Technique to Clinical Practice: Which Pathway in Transplant Surgery?

scientific article published on 30 June 2018

Italian external quality assessment program for cystic fibrosis sweat chloride test: a 2015 and 2016 results comparison

artículo científico publicado en 2017

Many paths to the top of the mountain: diverse evolutionary solutions to centromere structure.

artículo científico publicado en 2000

Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

scholarly article by Sabina Gainotti et al published 21 September 2018 in International Journal of Environmental Research and Public Health

Organ Transplantation From Nonstandard Risk Donors: Midway Between Rigid and Flexible Rules

scientific article published on 09 October 2019

Organization and integration sites in the human genome of endogenous retroviral sequences belonging to HERV-E family

artículo científico publicado en 2002

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

article

Streptococcus Suis: A Potential Risk Factor for Salivary Gland Tumors?

The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality?

scientific article published on 04 May 2020

The Italian External Quality Assessment Scheme for Fragile X Syndrome: The Results of a 5-Year Survey

article

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity

artículo científico publicado en 2007

The Italian National Centre for Rare Diseases: where research and public health translate into action

artículo científico publicado en 2014

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

artículo científico publicado en 2018

The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

artículo científico publicado en 2013

The Italian external quality assessment scheme in classical cytogenetics: four years of activity.

artículo científico publicado en 2008

The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience

artículo científico publicado en 2010

The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey

artículo científico publicado en 2009

The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte.

artículo científico publicado en 1992

Three cases of rare salivary gland tumours: a molecular study of TP53, CDKN2A/ARF, RAS, BRAF, PTEN, MAPK2 and EGFR genes

artículo científico publicado en 2011

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

artículo científico publicado en 1993

Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis

artículo científico publicado en 2017

Vulnerability and ethical issues faced by general practitioners during the COVID-19 pandemic in Italy: some reflections and lessons learned

scientific article published in 2021

Lista de obras de Giovanna Floridia

A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N

A neocentromere in the DAZ region of the human Y chromosome

A new polymorphism in the flanking region of human VAMP2 and hPer1 genes.

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

Chromosomal alterations detected by comparative genomic hybridization in nonfunctioning endocrine pancreatic tumors

Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring.

From Experimental Technique to Clinical Practice: Which Pathway in Transplant Surgery?

Italian external quality assessment program for cystic fibrosis sweat chloride test: a 2015 and 2016 results comparison

Many paths to the top of the mountain: diverse evolutionary solutions to centromere structure.

Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

Organ Transplantation From Nonstandard Risk Donors: Midway Between Rigid and Flexible Rules

Organization and integration sites in the human genome of endogenous retroviral sequences belonging to HERV-E family

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

Streptococcus Suis: A Potential Risk Factor for Salivary Gland Tumors?

The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality?

The Italian External Quality Assessment Scheme for Fragile X Syndrome: The Results of a 5-Year Survey

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity

The Italian National Centre for Rare Diseases: where research and public health translate into action

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

The Italian external quality assessment scheme in classical cytogenetics: four years of activity.

The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience

The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey

The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte.

Three cases of rare salivary gland tumours: a molecular study of TP53, CDKN2A/ARF, RAS, BRAF, PTEN, MAPK2 and EGFR genes

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis

Vulnerability and ethical issues faced by general practitioners during the COVID-19 pandemic in Italy: some reflections and lessons learned