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List of works by Domenica Taruscio

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

scientific article published on 21 February 2007

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

scientific article published on 08 May 2013

A model for the European platform for rare disease registries.

scientific article published in January 2013

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

scientific article published in October 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).

scientific article

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

scientific article

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

scientific article published in June 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

scientific article

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

scientific article published on 11 November 2014

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

scientific article

Classification and codification of rare diseases

article published in 2012

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

scientific article

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

scientific article

Data Quality in Rare Diseases Registries

scientific article published in January 2017

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

scientific article published on September 2, 2012

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

scientific article published on 29 September 2015

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

scientific article published on 01 July 2007

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

scientific article published in January 2013

Editorial

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

scientific article published on 19 October 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

scientific article published on 3 April 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

scientific article published on July 2011

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

scientific article

Generation and characterization of a human chromosome 9 cosmid library.

scientific article

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

scientific article

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

scientific article published on April 2014

Health Systems Sustainability and Rare Diseases

scientific article published in January 2017

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

article

Human Endogenous Retroviral Sequences: Possible Roles in Reproductive Physiopathology1 ⬇️

scientific article published on 01 October 1998

Human dopamine D5 receptor pseudogenes ⬇️

scientific article published on December 30, 1991

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

scientific article published on 01 August 1998

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

scientific article published on 20 October 2009

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

scientific article published in January 2017

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

scientific article

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

scientific article published on 20 March 2010

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

scientific article published in January 1991

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

scientific article

Integration site preferences of endogenous retroviruses

scientific article published on December 1991

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

scientific article published on May 2017

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

scientific article published in July 2007

Italian Cystic Fibrosis Registry. Report 2011-2014

scientific article published in January 2018

Italian Registries on Bleeding Disorders

scientific article

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

scientific article published in October 2017

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

scientific article published on 29 October 2017

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

scientific article published on 01 September 1985

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

scientific article published in May 2008

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

scientific article

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

scientific article

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

scientific article published on October 2008

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

scientific article

National plans and strategies on rare diseases in Europe

scientific article published on January 1, 2010

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

scientific article published on 9 September 2014

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

scientific article published on 01 October 1985

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

scientific article

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

scientific article published on 01 March 1994

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

scientific article published in April 2002

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

scientific article published on 14 September 2011

P4 Medicine versus Hippocrates

scientific article

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

scientific article published on July 2016

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

scientific article published in April 2017

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

scientific article

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

scientific article published in January 2017

Primary prevention of congenital anomalies: recommendable, feasible and achievable

scientific article published on 12 March 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.

scientific article published on 4 September 2007

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

scientific article published on 11 November 2014

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

scientific article

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

scientific article

Rare disease registries classification and characterization: a data mining approach

scientific article

Rare diseases research and practice

scientific article published on 09 September 2014

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.

scientific article published on 31 March 2017

Report of an international survey of molecular genetic testing laboratories

scientific article published in January 2007

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

scientific article published on 2 April 2016

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

scientific article published on 2 April 2016

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

scientific article published on 8 April 2016

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

scientific article published on 23 April 2016

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

scientific article

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

scientific article published on 4 April 2016

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

scientific article

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

scientific article published on 2 April 2016

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

scientific article published on 9 April 2016

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

scientific article

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

scientific article

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

article

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

scientific article published on 28 September 2016

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

scientific article

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

scientific article published on January 2007

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

scientific article

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

scientific article published on 29 January 2013

The Italian National Rare Diseases Registry

scientific article

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

scientific article published on 27 December 2017

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

scientific article published on 20 May 2008

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

scientific article

The Italian pilot external quality assessment program for cystic fibrosis sweat test

scientific article published on 3 February 2016

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

scientific article

The Quality of Rare Disease Registries: Evaluation and Characterization.

scientific article

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

scientific article

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

scientific article published in January 2017

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

scientific article published on 26 August 2013

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

scientific article published on January 2009

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

scientific article published in January 2013

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

scientific article published on August 2000

The need for worldwide policy and action plans for rare diseases

scientific article

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

scientific article published on 4 July 2006

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

scientific article

The role of microRNAs in the biology of rare diseases

scientific article published on 11 October 2011

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

scientific article

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

scientific article published on 14 April 2011

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

scientific article published on 01 January 1989

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

scientific article

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

scientific article

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