Lista de obras - Domenica Taruscio - Dominio Público Uruguay

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

artículo científico publicado en 2007

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

artículo científico publicado en 2013

A model for the European platform for rare disease registries.

artículo científico publicado en 2013

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

artículo científico publicado en 2002

A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998).

artículo científico publicado en 2002

Alteration of chromosome arm 6p is characteristic of primary mediastinal B-cell lymphoma, as identified by genome-wide allelotyping

Altered microRNA Expression Patterns in Hepatoblastoma Patients

artículo científico publicado en 2009

Birth defects and folates: summary of the Italian workshop (December, 2001).

artículo científico publicado en 2003

Cell Cycle-Dependent Distribution of Telomeres, Centromeres, and Chromosome-Specific Subsatellite Domains in the Interphase Nucleus of Mouse Lymphocytes

scientific article published on 01 March 1993

Centres of Expertise and European Reference Networks: key issues in the field of rare diseases. The EUCERD Recommendations

artículo científico publicado en 2014

Characterization and classification of Rare Disease Registries by using exploratory data analyses

artículo científico publicado en 2014

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

artículo científico publicado en 2005

Classification and codification of rare diseases

article published in 2012

Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease

artículo científico publicado en 2009

Cryptorchidism and hypospadias in the Sicilian district of Ragusa and the use of pesticides

scientific article from 2006

Current status of Italian Registries on inherited bleeding disorders

artículo científico publicado en 2014

Data Quality in Rare Diseases Registries

artículo científico publicado en 2017

Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study ⬇️

artículo científico publicado el 2 de septiembre de 2012

Developing methodology for the creation of clinical practice guidelines for rare diseases: A report from RARE-Bestpractices.

artículo científico publicado en 2015

EQUAL-qual: A European Program for External Quality Assessment of Genomic DNA Extraction and PCR Amplification

artículo científico publicado en 2007

EUROPLAN: a project to support the development of national plans on rare diseases in Europe

artículo científico publicado en 2013

Editorial

European Project for Rare Diseases National Plans Development (EUROPLAN).

artículo científico publicado en 2010

European Reference Networks and Guideline Development and Use: Challenges and Opportunities

article

European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans

artículo científico publicado en 2014

Evaluation of an experimental periodontal ligament for dental implants

scientific article published on 01 July 1991

Expanded Newborn Screening: A Chess Board Motif in Public Health

article

Folic acid and primary prevention of birth defects

artículo científico publicado en 2011

Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective

artículo científico publicado en 2017

Generation and characterization of a human chromosome 9 cosmid library.

artículo científico publicado en 1992

Genetic and physical map of the interferon region on chromosome 9p.

artículo científico publicado en 1992

Haemophilia Centre Certification Systems: optional or optimal choice for healthcare systems?

artículo científico publicado en 2014

Health Systems Sustainability and Rare Diseases

artículo científico publicado en 2017

Health-Related Quality of Life in Patients with Neurofibromatosis Type 1

article

Human Endogenous Retroviral Sequences: Possible Roles in Reproductive Physiopathology1 ⬇️

artículo científico publicado el 1 de octubre de 1998

Human dopamine D5 receptor pseudogenes ⬇️

artículo científico publicado el 30 de diciembre de 1991

Human endogenous retroviruses and environmental endocrine disrupters: a connection worth exploring?

artículo científico publicado en 1998

Identification of key regions and genes important in the pathogenesis of sezary syndrome by combining genomic and expression microarrays

artículo científico publicado en 2009

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

artículo científico publicado en 2017

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research

artículo científico publicado en 2016

In utero exposure to di-(2-ethylhexyl) phthalate affects liver morphology and metabolism in post-natal CD-1 mice

artículo científico publicado en 2010

Increased reactivity of laminin in the basement membranes of capillary walls in AIDS brain cortex

artículo científico publicado en 1991

Initiating an undiagnosed diseases program in the Western Australian public health system

artículo científico publicado en 2017

Integration site preferences of endogenous retroviruses

artículo científico publicado en 1991

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

artículo científico

International conferences on rare diseases: initiatives in commitment, patient care and connections

artículo científico publicado en 2007

Italian Cystic Fibrosis Registry. Report 2011-2014

artículo científico publicado en 2018

Italian Registries on Bleeding Disorders

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

artículo científico publicado en 2017

Malignant histiocytosis (true histiocytic lymphoma) clinicopathological study of 25 cases

artículo científico publicado en 1985

Maternal diet and the risk of hypospadias and cryptorchidism in the offspring

artículo científico publicado en 2008

MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures

artículo científico publicado en 2010

Modeling delay in diagnosis of NF: under reportincg, incidence and prevalence estimates

article

Modeling delay to diagnosis for amyotrophic lateral sclerosis: under reporting and incidence estimates

artículo científico publicado en 2012

Molecular link(s) between hepatoblastoma pathogenesis and exposure to di-(2-ethylhexyl)phthalate: a hypothesis.

artículo científico publicado en 2008

Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)

artículo científico publicado en 2011

National plans and strategies on rare diseases in Europe

artículo científico publicado el 1 de enero de 2010

National registries of rare diseases in Europe: an overview of the current situation and experiences

artículo científico publicado en 2014

Neoplastic and reactive follicles within B-cell malignant lymphomas. A morphological and immunological study of 30 cases

artículo científico publicado en 1985

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance

artículo científico publicado en 2012

Nonrandom gain of chromosome 7 in central neurocytoma: A chromosomal analysis and fluorescence in situ hybridization study

scientific article published on 01 January 1997

Numerical chromosomal aberrations in thyroid tumors detected by double fluorescence in situ hybridization

artículo científico publicado en 1994

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

artículo científico publicado en 2002

Oxidative stress activation of miR-125b is part of the molecular switch for Hailey-Hailey disease manifestation

artículo científico publicado en 2011

P4 Medicine versus Hippocrates

artículo científico publicado en 2017

Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome

artículo científico publicado en 2016

Patient-physician alliance: from Hippocrates to Post-Genomic Era. Commentary

artículo científico publicado en 2017

Policies on Conflicts of Interest in Health Care Guideline Development: A Cross-Sectional Analysis

artículo científico publicado en 2016

Predictive medicine and biomarkers: the case of rare diseases

Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases

artículo científico publicado en 2017

Primary prevention of congenital anomalies: recommendable, feasible and achievable

artículo científico publicado en 2015

PstI RFLP in the GABA ρ1receptor gene on human chromosome 6q

article

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

article

Quality of life assessment in a sample of patients affected by Prader-Willi syndrome.

artículo científico publicado en 2007

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases.

artículo científico publicado en 2014

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

artículo científico publicado en 2014

Rare Diseases in Europe: from a Wide to a Local Perspective

artículo científico publicado en 2016

Rare disease registries classification and characterization: a data mining approach

artículo científico publicado en 2015

Rare diseases research and practice

artículo científico

Recommendations for Improving the Quality of Rare Disease Registries

Recruitment procedures for descriptive socio-economic studies in rare diseases. The BURQOL-RD project

Reimbursed Price of Orphan Drugs: Current Strategies and Potential Improvements.

artículo científico publicado en 2017

Report of an international survey of molecular genetic testing laboratories

artículo científico publicado en 2007

Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe.

artículo científico publicado en 2016

Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe.

artículo científico publicado en 2016

Social/economic costs and health-related quality of life in patients with cystic fibrosis in Europe.

artículo científico publicado en 2016

Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe

artículo científico publicado en 2016

Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe.

artículo científico publicado en 2016

Social/economic costs and health-related quality of life in patients with histiocytosis in Europe.

artículo científico publicado en 2016

Social/economic costs and health-related quality of life in patients with juvenile idiopathic arthritis in Europe

artículo científico publicado en 2016

Social/economic costs and health-related quality of life in patients with scleroderma in Europe.

artículo científico publicado en 2016

Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe.

artículo científico publicado en 2016

Social/economic costs and quality of life in patients with haemophilia in Europe.

artículo científico publicado en 2016

Strategies for eliciting and synthesizing evidence for guidelines in rare diseases

scientific article published on 28 March 2019

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

Sustainable public health systems for rare diseases

artículo científico publicado en 2017

Tackling the Problem of Rare Diseases in Public Health: The Italian Approach

article

Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy

artículo científico publicado en 2016

The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration

artículo científico publicado en 2014

The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes

scientific article published on 25 November 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 molecular genetic testing: results of the VII round (2010-2011).

artículo científico publicado en 2013

The Italian National Rare Diseases Registry

artículo científico publicado en 2014

The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge Data

artículo científico publicado en 2017

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 pilot external quality assessment program for cystic fibrosis sweat test

artículo científico publicado en 2016

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 Quality of Rare Disease Registries: Evaluation and Characterization.

artículo científico publicado en 2016

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

artículo científico publicado en 2018

The Role of Solidarity(-ies) in Rare Diseases Research.

artículo científico publicado en 2017

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

artículo científico

The Task-force in Europe for Drug Development for the Young (TEDDY) Network of Excellence.

artículo científico publicado en 2009

The current situation and needs of rare disease registries in Europe.

artículo científico publicado en 2013

The human per1 gene: genomic organization and promoter analysis of the first human orthologue of the Drosophila period gene

artículo científico publicado en 2000

The need for worldwide policy and action plans for rare diseases

artículo científico publicado en 2012

The possible role of endocrine disrupting chemicals in the aetiology of cryptorchidism and hypospadias: a population-based case-control study in rural Sicily

artículo científico publicado en 2006

The risk of re-identification versus the need to identify individuals in rare disease research

artículo científico publicado en 2016

The role of microRNAs in the biology of rare diseases

artículo científico publicado en 2011

The social burden and quality of life of patients with haemophilia in Italy

artículo científico publicado en 2014

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

Ultrastructural identification of sulphated glycoconjugates in the Golgi apparatus in human colonic absorptive cells

artículo científico publicado en 1989

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Lista de obras de Domenica Taruscio

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

A model for the European platform for rare disease registries.

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

A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998).

Alteration of chromosome arm 6p is characteristic of primary mediastinal B-cell lymphoma, as identified by genome-wide allelotyping

Altered microRNA Expression Patterns in Hepatoblastoma Patients

Birth defects and folates: summary of the Italian workshop (December, 2001).

Cell Cycle-Dependent Distribution of Telomeres, Centromeres, and Chromosome-Specific Subsatellite Domains in the Interphase Nucleus of Mouse Lymphocytes

Centres of Expertise and European Reference Networks: key issues in the field of rare diseases. The EUCERD Recommendations

Characterization and classification of Rare Disease Registries by using exploratory data analyses

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

Classification and codification of rare diseases

Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease

Cryptorchidism and hypospadias in the Sicilian district of Ragusa and the use of pesticides

Current status of Italian Registries on inherited bleeding disorders

Data Quality in Rare Diseases Registries

Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study ⬇️

Developing methodology for the creation of clinical practice guidelines for rare diseases: A report from RARE-Bestpractices.

EQUAL-qual: A European Program for External Quality Assessment of Genomic DNA Extraction and PCR Amplification

EUROPLAN: a project to support the development of national plans on rare diseases in Europe

Editorial

European Project for Rare Diseases National Plans Development (EUROPLAN).

European Reference Networks and Guideline Development and Use: Challenges and Opportunities

European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans

Evaluation of an experimental periodontal ligament for dental implants

Expanded Newborn Screening: A Chess Board Motif in Public Health

Folic acid and primary prevention of birth defects

Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective

Generation and characterization of a human chromosome 9 cosmid library.

Genetic and physical map of the interferon region on chromosome 9p.

Haemophilia Centre Certification Systems: optional or optimal choice for healthcare systems?

Health Systems Sustainability and Rare Diseases

Health-Related Quality of Life in Patients with Neurofibromatosis Type 1

Human Endogenous Retroviral Sequences: Possible Roles in Reproductive Physiopathology1 ⬇️

Human dopamine D5 receptor pseudogenes ⬇️

Human endogenous retroviruses and environmental endocrine disrupters: a connection worth exploring?

Identification of key regions and genes important in the pathogenesis of sezary syndrome by combining genomic and expression microarrays

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research

In utero exposure to di-(2-ethylhexyl) phthalate affects liver morphology and metabolism in post-natal CD-1 mice

Increased reactivity of laminin in the basement membranes of capillary walls in AIDS brain cortex

Initiating an undiagnosed diseases program in the Western Australian public health system

Integration site preferences of endogenous retroviruses

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

International conferences on rare diseases: initiatives in commitment, patient care and connections

Italian Cystic Fibrosis Registry. Report 2011-2014

Italian Registries on Bleeding Disorders

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

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

Malignant histiocytosis (true histiocytic lymphoma) clinicopathological study of 25 cases

Maternal diet and the risk of hypospadias and cryptorchidism in the offspring

MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures

Modeling delay in diagnosis of NF: under reportincg, incidence and prevalence estimates

Modeling delay to diagnosis for amyotrophic lateral sclerosis: under reporting and incidence estimates

Molecular link(s) between hepatoblastoma pathogenesis and exposure to di-(2-ethylhexyl)phthalate: a hypothesis.

Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)

National plans and strategies on rare diseases in Europe

National registries of rare diseases in Europe: an overview of the current situation and experiences

Neoplastic and reactive follicles within B-cell malignant lymphomas. A morphological and immunological study of 30 cases

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance

Nonrandom gain of chromosome 7 in central neurocytoma: A chromosomal analysis and fluorescence in situ hybridization study

Numerical chromosomal aberrations in thyroid tumors detected by double fluorescence in situ hybridization

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

Oxidative stress activation of miR-125b is part of the molecular switch for Hailey-Hailey disease manifestation

P4 Medicine versus Hippocrates

Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome

Patient-physician alliance: from Hippocrates to Post-Genomic Era. Commentary

Policies on Conflicts of Interest in Health Care Guideline Development: A Cross-Sectional Analysis

Predictive medicine and biomarkers: the case of rare diseases

Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases

Primary prevention of congenital anomalies: recommendable, feasible and achievable

PstI RFLP in the GABA ρ1receptor gene on human chromosome 6q

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

Quality of life assessment in a sample of patients affected by Prader-Willi syndrome.

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases.

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

Rare Diseases in Europe: from a Wide to a Local Perspective

Rare disease registries classification and characterization: a data mining approach