Publications Authored by Domenica Taruscio

A National Hospital-Based Study of Hospitalized Patients With Primary Biliary Cholangitis.

Authors:

Valerio Manno Alessio Gerussi Marco Carbone Giada Minelli Domenica Taruscio Susanna Conti Pietro Invernizzi

Hepatol Commun 2019 Sep 15;3(9):1250-1257. Epub 2019 Jul 15.

Division of Gastroenterology and Center for Autoimmune Liver Diseases, Department of Medicine and Surgery University of Milano-Bicocca Monza Italy.

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http://dx.doi.org/10.1002/hep4.1407	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719751	PMC

September 2019

Health systems sustainability for rare diseases. Preface.

Authors:

Rita Maria Ferrelli Bernardino Fantini Domenica Taruscio

Ann Ist Super Sanita 2019 Jul-Sep;55(3):249-250

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.4415/ANN_19_03_09	DOI Listing

September 2019

Primary prevention as an essential factor ensuring sustainability of health systems: the example of congenital anomalies.

Authors:

Domenica Taruscio Eva Bermejo-Sánchez Paolo Salerno Alberto Mantovani

Ann Ist Super Sanita 2019 Jul-Sep;55(3):258-264

Dipartimento di Sicurezza Alimentare, Nutrizione e Sanità Pubblica Veterinaria, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.4415/ANN_19_03_11	DOI Listing

September 2019

Health systems sustainability in the framework of rare diseases actions. Actions on educational programmes and training for professionals and patients.

Authors:

Emilia Severin Marta De Santis Rita Maria Ferrelli Domenica Taruscio

Ann Ist Super Sanita 2019 Jul-Sep;55(3):265-269

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.4415/ANN_19_03_12	DOI Listing

September 2019

Policies and actions to tackle rare diseases at European level.

Authors:

Antoni Montserrat Domenica Taruscio

Ann Ist Super Sanita 2019 Jul-Sep;55(3):296-304

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.4415/ANN_19_03_17	DOI Listing

September 2019

Competing to raise awareness of rare diseases.

Authors:

Agata Polizzi Amalia Egle Gentile Domenica Taruscio

Lancet Neurol 2019 Aug 15;18(8):721-722. Epub 2018 Nov 15.

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http://dx.doi.org/10.1016/S1474-4422(18)30437-X	DOI Listing

August 2019

[Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016].

Authors:

Barbara Giordani Annalisa Amato Fabio Majo Gianluca Ferrari Serena Quattrucci Laura Minicucci Rita Padoan Giovanna Floridia Donatello Salvatore Vincenzo Carnovale Gianna Puppo Fornaro Domenica Taruscio Marco Salvatore

Epidemiol Prev 2019 Jul-Aug;43(4S1):1-36

Centro nazionale malattie rare, Istituto superiore di sanità, Roma.

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http://dx.doi.org/10.19191/EP19.4.S1.067	DOI Listing

August 2019

Using a stated preference discrete choice experiment to assess societal value from the perspective of patients with rare diseases in Italy.

Authors:

Julio López-Bastida Juan Manuel Ramos-Goñi Isaac Aranda-Reneo Domenica Taruscio Armando Magrelli Panos Kanavos

Orphanet J Rare Dis 2019 06 26;14(1):154. Epub 2019 Jun 26.

Department of Social Policy and Medical Technology Research Group, London School of Economics and Political Science, London, UK.

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http://dx.doi.org/10.1186/s13023-019-1126-1	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6595697	PMC

June 2019

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

Authors:

Yllka Kodra Giada Minelli Adele Rocchetti Valerio Manno Annamaria Carinci Susanna Conti Domenica Taruscio

J Public Health (Oxf) 2019 Mar;41(1):46-54

National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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https://academic.oup.com/jpubhealth/advance-article/doi/10.1	Publisher Site
http://dx.doi.org/10.1093/pubmed/fdx176	DOI Listing

March 2019

Strategies for eliciting and synthesizing evidence for guidelines in rare diseases.

Authors:

Menaka Pai Cindy H T Yeung Elie A Akl Andrea Darzi Christopher Hillis Kimberly Legault Joerg J Meerpohl Nancy Santesso Domenica Taruscio Madeleine Verhovsek Holger J Schünemann Alfonso Iorio

BMC Med Res Methodol 2019 03 28;19(1):67. Epub 2019 Mar 28.

McMaster University, Hamilton, Canada.

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https://bmcmedresmethodol.biomedcentral.com/articles/10.1186	Publisher Site
http://dx.doi.org/10.1186/s12874-019-0713-0	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437842	PMC

March 2019

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.

Front Genet 2018 21;9:723. Epub 2019 Jan 21.

Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

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http://dx.doi.org/10.3389/fgene.2018.00723	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357929	PMC

January 2019

[Italian Cystic Fibrosis Registry. Report 2011-2014].

Authors:

Barbara Giordani Annalisa Amato Fabio Majo Gianluca Ferrari Serena Quattrucci Laura Minicucci Rita Padoan Giovanna Floridia Gianna Puppo Fornaro Domenica Taruscio Marco Salvatore

Epidemiol Prev 2018 Jan-Feb;42(1S1):1-32

Centro nazionale malattie rare, Istituto superiore di sanità, Roma.

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http://dx.doi.org/10.19191/EP18.1-S1.P001.001	DOI Listing

November 2018

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

Authors:

Maria Chiara de Stefano Giovanna Floridia Federica Censi Fabrizio Tosto Marco Salvatore Alessandro Civolani Barbara Crescenzi Daniela Giardino Elisabetta Lenzini Ermanna Lisi Fortunato Lonardo Marco Mancini Antonio Novelli Giuseppe Piombo Sabine Stioui Domenica Taruscio

Ann Ist Super Sanita 2018 Apr-Jun;54(2):109-116

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.4415/ANN_18_02_06	DOI Listing

November 2018

[Rare diseases in post-genomic era.]

Authors:

Simonetta Pulciani Andrea Vittozzi Stefano Diemoz Emanuele Nutile Domenica Taruscio

Recenti Prog Med 2017 Jul-Aug;108(7):307-315

Centro Nazionale Malattie Rare.

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http://dx.doi.org/10.1701/2731.27836	DOI Listing

October 2018

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

Authors:

Sabina Gainotti Deborah Mascalzoni Virginie Bros-Facer Carlo Petrini Giovanna Floridia Marco Roos Marco Salvatore Domenica Taruscio

Int J Environ Res Public Health 2018 09 21;15(10). Epub 2018 Sep 21.

National Center for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy.

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http://dx.doi.org/10.3390/ijerph15102072	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210164	PMC

September 2018

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

Authors:

Marco Salvatore Giovanna Floridia Annalisa Amato Federica Censi Maria Chiara de Stefano Gianluca Ferrari Fabrizio Tosto Domenica Taruscio

Ann Ist Super Sanita 2017 Oct-Dec;53(4):305-313

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy

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http://dx.doi.org/10.4415/ANN_17_04_06	DOI Listing

August 2018

Recommendations for Improving the Quality of Rare Disease Registries.

Int J Environ Res Public Health 2018 08 3;15(8). Epub 2018 Aug 3.

National Centre for Rare Diseases, Istituto Superiore di Sanità, 00162 Rome, Italy.

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http://dx.doi.org/10.3390/ijerph15081644	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121483	PMC

August 2018

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

Biomed Res Int 2017 29;2017:8327980. Epub 2017 Oct 29.

University of Aveiro, DETI/IEETA, Aveiro, Portugal.

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http://dx.doi.org/10.1155/2017/8327980	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682045	PMC

July 2018

The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases.

Authors:

Domenica Taruscio Luciano Vittozzi Adele Rocchetti Paola Torreri Luca Ferrari

Int J Environ Res Public Health 2018 07 12;15(7). Epub 2018 Jul 12.

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, 00161 Rome, Italy.

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http://dx.doi.org/10.3390/ijerph15071470	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068991	PMC

July 2018

Privacy-Preserving Linkage of Genomic and Clinical Data Sets.

Authors:

Dixie B Baker Bartha M Knoppers Mark Phillips David van Enckevort Petra Kaufmann Hanns Lochmuller Domenica Taruscio

IEEE/ACM Trans Comput Biol Bioinform 2019 Jul-Aug;16(4):1342-1348. Epub 2018 Jul 30.

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http://dx.doi.org/10.1109/TCBB.2018.2855125	DOI Listing

July 2018

P4 Medicine versus Hippocrates.

Authors:

Simonetta Pulciani Anna Di Lonardo Corrado Fagnani Domenica Taruscio

Ann Ist Super Sanita 2017 Jul-Sep;53(3):185-191

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.4415/ANN_17_03_02	DOI Listing

June 2018

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

Authors:

Domenica Taruscio Giovanna Floridia Marco Salvatore Stephen C Groft William A Gahl

Adv Exp Med Biol 2017 ;1031:25-38

Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Rockville, MD, USA.

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http://link.springer.com/10.1007/978-3-319-67144-4_2	Publisher Site
http://dx.doi.org/10.1007/978-3-319-67144-4_2	DOI Listing

June 2018

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

Authors:

Gareth Baynam Faye Bowman Karla Lister Caroline E Walker Nicholas Pachter Jack Goldblatt Kym M Boycott William A Gahl Kenjiro Kosaki Takeya Adachi Ken Ishii Trinity Mahede Fiona McKenzie Sharron Townshend Jennie Slee Cathy Kiraly-Borri Anand Vasudevan Anne Hawkins Stephanie Broley Lyn Schofield Hedwig Verhoef Tudor Groza Andreas Zankl Peter N Robinson Melissa Haendel Michael Brudno John S Mattick Marcel E Dinger Tony Roscioli Mark J Cowley Annie Olry Marc Hanauer Fowzan S Alkuraya Domenica Taruscio Manuel Posada de la Paz Hanns Lochmüller Kate Bushby Rachel Thompson Victoria Hedley Paul Lasko Kym Mina John Beilby Cynthia Tifft Mark Davis Nigel G Laing Daria Julkowska Yann Le Cam Sharon F Terry Petra Kaufmann Iiro Eerola Irene Norstedt Ana Rath Makoto Suematsu Stephen C Groft Christopher P Austin Ruxandra Draghia-Akli Tarun S Weeramanthri Caron Molster Hugh J S Dawkins

Adv Exp Med Biol 2017 ;1031:55-94

School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1007/978-3-319-67144-4_4	DOI Listing

June 2018

Data Quality in Rare Diseases Registries.

Authors:

Yllka Kodra Manuel Posada de la Paz Alessio Coi Michele Santoro Fabrizio Bianchi Faisal Ahmed Yaffa R Rubinstein Jérôme Weinbach Domenica Taruscio

Adv Exp Med Biol 2017 ;1031:149-164

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Viale Regina Elena 299, CAP, 00161, Rome, Italy.

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http://dx.doi.org/10.1007/978-3-319-67144-4_8	DOI Listing

June 2018

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

Authors:

Domenica Taruscio Francesca Baldi Pietro Carbone Amanda J Neville Giovanni Rezza Caterina Rizzo Alberto Mantovani

Adv Exp Med Biol 2017 ;1031:301-322

Department of Food Safety, Nutrition and Veterinary Public Health, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1007/978-3-319-67144-4_18	DOI Listing

June 2018

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

Authors:

Deborah Mascalzoni Carlo Petrini Domenica Taruscio Sabina Gainotti

Adv Exp Med Biol 2017 ;1031:589-604

Bioethics Unit, Istituto Superiore di Sanità, v.le Regina Elena 299, CAP, 00161, Rome, Italy.

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http://dx.doi.org/10.1007/978-3-319-67144-4_31	DOI Listing

June 2018

Health Systems Sustainability and Rare Diseases.

Authors:

Rita Maria Ferrelli Marta De Santis Amalia Egle Gentile Domenica Taruscio

Adv Exp Med Biol 2017 ;1031:629-640

Centro Nazionale Malattie Rare. Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy.

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http://dx.doi.org/10.1007/978-3-319-67144-4_33	DOI Listing

June 2018

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

Eur J Hum Genet 2018 05 2;26(5):631-643. Epub 2018 Feb 2.

National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1038/s41431-017-0085-z	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945774	PMC

May 2018

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

Authors:

Simonetta Pulciani Domenica Taruscio

Ann Ist Super Sanita 2017 Apr-Jun;53(2):93-95

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.4415/ANN_17_02_02	DOI Listing

April 2018

Sustainable public health systems for rare diseases.

Authors:

Rita Maria Ferrelli Amalia Egle Gentile Marta De Santis Domenica Taruscio

Ann Ist Super Sanita 2017 Apr-Jun;53(2):170-175

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.4415/ANN_17_02_16	DOI Listing

April 2018

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

Authors:

Pierpaolo Mincarone Carlo Giacomo Leo Saverio Sabina Antonio Sarriá-Santamera Domenica Taruscio Pedro Guillermo Serrano-Aguilar Panos Kanavos

Public Health Genomics 2017 31;20(1):1-8. Epub 2017 Mar 31.

Institute for Research on Population and Social Policies, URT Brindisi, National Research Council of Italy, Brindisi, Italy.

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http://dx.doi.org/10.1159/000464100	DOI Listing

January 2018

Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.

Clin Transl Sci 2018 01 23;11(1):21-27. Epub 2017 Oct 23.

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1111/cts.12500	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759721	PMC

January 2018

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

Authors:

Athanassios Vozikis David N Cooper Christina Mitropoulou Manousos E Kambouris Angela Brand Vita Dolzan Paolo Fortina Federico Innocenti Ming Ta Michael Lee Lada Leyens Milan Macek Fahd Al-Mulla Barbara Prainsack Alessio Squassina Domenica Taruscio Ron H van Schaik Effy Vayena Marc S Williams George P Patrinos

Public Health Genomics 2016 28;19(6):352-363. Epub 2016 Sep 28.

Laboratory of Health Economics and Management, Department of Economics, University of Piraeus, Piraeus, Greece.

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http://dx.doi.org/10.1159/000449152	DOI Listing

September 2017

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

Authors:

Cristina Morciano Vittorio Basevi Carla Faralli Michele Hilton Boon Sabina Tonon Domenica Taruscio

PLoS One 2016 15;11(11):e0166485. Epub 2016 Nov 15.

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0166485	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113001	PMC

June 2017

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

Orphanet J Rare Dis 2017 05 3;12(1):83. Epub 2017 May 3.

Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1186/s13023-017-0619-z	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415708	PMC

May 2017

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Am J Hum Genet 2017 May;100(5):695-705

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1016/j.ajhg.2017.04.003	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420351	PMC

May 2017

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

Authors:

Yllka Kodra Loreta A Kondili Alessia Ferraroni Maria Antonietta Serra Flavia Caretto Maria Antonietta Ricci Domenica Taruscio

Ann Ist Super Sanita 2016 Jul-Sep;52(3):428-433

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://www.iss.it/binary/publ/cont/ANN_16_03_15.pdf	Publisher Site
http://dx.doi.org/10.4415/ANN_16_03_15	DOI Listing

April 2017

Exploring the usability of EUCERD core indicators for rare diseases.

Authors:

Rita Maria Ferrelli Marta De Santis Amalia Egle Gentile Domenica Taruscio

Ann Ist Super Sanita 2015 ;51(4):342-5

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.4415/ANN_15_04_15	DOI Listing

February 2017

The Quality of Rare Disease Registries: Evaluation and Characterization.

Authors:

Alessio Coi Michele Santoro Ana Villaverde-Hueso Michele Lipucci Di Paola Sabina Gainotti Domenica Taruscio Manuel Posada de la Paz Fabrizio Bianchi

Public Health Genomics 2016 22;19(2):108-15. Epub 2016 Mar 22.

Institute of Clinical Physiology, National Research Council, Pisa, Italy.

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http://dx.doi.org/10.1159/000444476	DOI Listing

February 2017

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

Authors:

Mats G Hansson Hanns Lochmüller Olaf Riess Franz Schaefer Michael Orth Yaffa Rubinstein Caron Molster Hugh Dawkins Domenica Taruscio Manuel Posada Simon Woods

Eur J Hum Genet 2016 11 25;24(11):1553-1558. Epub 2016 May 25.

Policy Ethics and Life Sciences Research Centre, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2016.52	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110051	PMC

November 2016

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

Authors:

Sabina Gainotti Cathy Turner Simon Woods Anna Kole Pauline McCormack Hanns Lochmüller Olaf Riess Volker Straub Manuel Posada Domenica Taruscio Deborah Mascalzoni

Eur J Hum Genet 2016 08 10;24(9):1248-54. Epub 2016 Feb 10.

Center for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1038/ejhg.2016.2	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989211	PMC

August 2016

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

Authors:

Cristina Morciano Paola Laricchiuta Domenica Taruscio Holger Schünemann

Public Health Genomics 2015 23;18(5):318-20. Epub 2015 Jul 23.

Centro Nazionale Malattie Rare, Istituto Superiore di Sanitx00E0;, Rome, Italy.

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http://dx.doi.org/10.1159/000435852	DOI Listing

June 2016

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

Authors:

Simone Baldovino Antoni Montserrat Moliner Domenica Taruscio Erica Daina Dario Roccatello

Isr Med Assoc J 2016 Jun;18(6):359-63

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June 2016

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

Authors:

Marco Salvatore Giovanna Floridia Annalisa Amato Federica Censi Claudio Carta Maria Chiara de Stefano Gianluca Ferrari Fabrizio Tosto Ettore Capoluongo Ubaldo Caruso Giuseppe Castaldo Natalia Cirilli Carlo Corbetta Rita Padoan Valeria Raia Domenica Taruscio

Clin Biochem 2016 May 3;49(7-8):601-5. Epub 2016 Feb 3.

National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1016/j.clinbiochem.2015.12.014	DOI Listing

May 2016

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

Authors:

Marianna Cavazza Yllka Kodra Patrizio Armeni Marta De Santis Julio López-Bastida Renata Linertová Juan Oliva-Moreno Pedro Serrano-Aguilar Manuel Posada-de-la-Paz Domenica Taruscio Arrigo Schieppati Georgi Iskrov Márta Péntek Johann Matthias Graf von der Schulenburg Panos Kanavos Karine Chevreul Ulf Persson Giovanni Fattore

Eur J Health Econ 2016 Apr 2;17 Suppl 1:19-29. Epub 2016 Apr 2.

Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Via Roentgen 1, 20136, Milan, Italy.

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http://dx.doi.org/10.1007/s10198-016-0782-5	DOI Listing

April 2016

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

Authors:

Julio López-Bastida Renata Linertová Juan Oliva-Moreno Pedro Serrano-Aguilar Manuel Posada-de-la-Paz Panos Kanavos Domenica Taruscio Arrigo Schieppati Georgi Iskrov Márta Péntek Claudia Delgado Johann Mathias von der Schulenburg Ulf Persson Karine Chevreul Giovanni Fattore

Eur J Health Econ 2016 Apr 2;17 Suppl 1:109-17. Epub 2016 Apr 2.

Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Milan, Italy.

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http://dx.doi.org/10.1007/s10198-016-0789-y	DOI Listing

April 2016

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

Authors:

Julio López-Bastida Renata Linertová Juan Oliva-Moreno Manuel Posada-de-la-Paz Pedro Serrano-Aguilar Panos Kanavos Domenica Taruscio Arrigo Schieppati Georgi Iskrov Petra Baji Claudia Delgado Johann Matthias Graf von der Schulenburg Ulf Persson Karine Chevreul Giovanni Fattore

Eur J Health Econ 2016 Apr 2;17 Suppl 1:99-108. Epub 2016 Apr 2.

Centre for Research on Health and Social Care (CERGAS), Bocconi University, Milan, Italy.

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http://dx.doi.org/10.1007/s10198-016-0788-z	DOI Listing

April 2016

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

Authors:

Georgi Iskrov Itziar Astigarraga Rumen Stefanov Julio López-Bastida Renata Linertová Juan Oliva-Moreno Pedro Serrano-Aguilar Manuel Posada-de-la-Paz Arrigo Schieppati Domenica Taruscio Márta Péntek Johann Matthias Graf von der Schulenburg Panos Kanavos Karine Chevreul Ulf Persson Giovanni Fattore

Eur J Health Econ 2016 Apr 4;17 Suppl 1:67-78. Epub 2016 Apr 4.

Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Milan, Italy.

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http://dx.doi.org/10.1007/s10198-016-0790-5	DOI Listing

April 2016

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

Authors:

Marianna Cavazza Yllka Kodra Patrizio Armeni Marta De Santis Julio López-Bastida Renata Linertová Juan Oliva-Moreno Pedro Serrano-Aguilar Manuel Posada-de-la-Paz Domenica Taruscio Arrigo Schieppati Georgi Iskrov László Gulácsi Johann Matthias Graf von der Schulenburg Panos Kanavos Karine Chevreul Ulf Persson Giovanni Fattore

Eur J Health Econ 2016 Apr 5;17 Suppl 1:53-65. Epub 2016 Apr 5.

Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Via Roentgen 1, 20136, Milan, Italy.

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http://dx.doi.org/10.1007/s10198-016-0785-2	DOI Listing

April 2016

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

Authors:

Karine Chevreul Morgane Michel Karen Berg Brigham Julio López-Bastida Renata Linertová Juan Oliva-Moreno Pedro Serrano-Aguilar Manuel Posada-de-la-Paz Domenica Taruscio Arrigo Schieppati Georgi Iskrov Márta Péntek Johann Matthias Graf von der Schulenburg Panos Kanavos Ulf Persson Giovani Fattore

Eur J Health Econ 2016 Apr 8;17 Suppl 1:7-18. Epub 2016 Apr 8.

Centro di Ricerche sulla Gestione dell'Assistenza Sanitaria e Sociale (CERGAS), Università Commerciale Luigi Bocconi, Milan, Italy.

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http://dx.doi.org/10.1007/s10198-016-0781-6	DOI Listing

April 2016

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

Eur J Health Econ 2016 Apr 9;17 Suppl 1:89-98. Epub 2016 Apr 9.

Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Milan, Italy.

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http://dx.doi.org/10.1007/s10198-016-0787-0	DOI Listing

April 2016

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

Authors:

Karine Chevreul Coralie Gandré Karen Berg Brigham Julio López-Bastida Renata Linertová Juan Oliva-Moreno Pedro Serrano-Aguilar Manuel Posada-de-la-Paz Domenica Taruscio Arrigo Schieppati Georgi Iskrov László Gulácsi Johann Matthias Graf von der Schulenburg Panos Kanavos Ulf Persson Giovani Fattore

Eur J Health Econ 2016 Apr 12;17 Suppl 1:43-52. Epub 2016 Apr 12.

Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Milan, Italy.

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http://dx.doi.org/10.1007/s10198-016-0784-3	DOI Listing

April 2016

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

Authors:

Aris Angelis Panos Kanavos Julio López-Bastida Renata Linertová Juan Oliva-Moreno Pedro Serrano-Aguilar Manuel Posada-de-la-Paz Domenica Taruscio Arrigo Schieppati Georgi Iskrov Valentin Brodszky Johann Matthias Graf von der Schulenburg Karine Chevreul Ulf Persson Giovanni Fattore

Eur J Health Econ 2016 Apr 23;17 Suppl 1:31-42. Epub 2016 Apr 23.

Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Milan, Italy.

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http://dx.doi.org/10.1007/s10198-016-0783-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869727	PMC

April 2016

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

Authors:

Domenica Taruscio Stephen C Groft Helene Cederroth Béla Melegh Paul Lasko Kenjiro Kosaki Gareth Baynam Alexa McCray William A Gahl

Mol Genet Metab 2015 Dec 5;116(4):223-5. Epub 2015 Nov 5.

NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, United States.

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http://dx.doi.org/10.1016/j.ymgme.2015.11.003	DOI Listing

December 2015

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

Authors:

Domenica Taruscio Luciano Vittozzi Remy Choquet Ketil Heimdal Georgi Iskrov Yllka Kodra Paul Landais Manuel Posada Rumen Stefanov Christiane Steinmueller Elfriede Swinnen Herman Van Oyen

Public Health Genomics 2015 9;18(1):20-5. Epub 2014 Sep 9.

National Centre for Rare Diseases, National Institute of Health, Rome, Italy.

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http://dx.doi.org/10.1159/000365897	DOI Listing

August 2015

Primary prevention of congenital anomalies: recommendable, feasible and achievable.

Authors:

Domenica Taruscio Alberto Mantovani Pietro Carbone Ingeborg Barisic Fabrizio Bianchi Ester Garne Vera Nelen Amanda Julie Neville Diana Wellesley Helen Dolk

Public Health Genomics 2015 12;18(3):184-91. Epub 2015 Mar 12.

National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1159/000379739	DOI Listing

August 2015

Rare disease registries classification and characterization: a data mining approach.

Authors:

Michele Santoro Alessio Coi Michele Lipucci Di Paola Anna Maria Bianucci Sabina Gainotti Emanuela Mollo Domenica Taruscio Luciano Vittozzi Fabrizio Bianchi

Public Health Genomics 2015 7;18(2):113-22. Epub 2015 Feb 7.

Institute of Clinical Physiology, National Council of Research, University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.1159/000369993	DOI Listing

July 2015

Rare diseases research and practice.

Authors:

Agata Polizzi Antonio Balsamo Milva Orquidea Bal Domenica Taruscio

Endocr Dev 2014 9;27:234-56. Epub 2014 Sep 9.

National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1159/000363670	DOI Listing

June 2015

The role of microRNAs in the biology of rare diseases.

Authors:

Marco Salvatore Armando Magrelli Domenica Taruscio

Int J Mol Sci 2011 11;12(10):6733-42. Epub 2011 Oct 11.

National Centre for Rare Diseases, Istituto Superiore di Sanità Viale Regina Elena, Rome 299-00161, Italy; E-Mails: (M.S.); (A.M.).

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http://www.mdpi.com/1422-0067/12/10/6733	Publisher Site
http://dx.doi.org/10.3390/ijms12106733	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3211006	PMC

November 2014

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

Authors:

Domenica Taruscio Emanuela Mollo Sabina Gainotti Manuel Posada de la Paz Fabrizio Bianchi Luciano Vittozzi

Arch Public Health 2014 13;72(1):35. Epub 2014 Oct 13.

National Centre for Rare Diseases, National Institute of Health, Rome, Italy.

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http://dx.doi.org/10.1186/2049-3258-72-35	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210567	PMC

October 2014

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

Authors:

Rachel Thompson Louise Johnston Domenica Taruscio Lucia Monaco Christophe Béroud Ivo G Gut Mats G Hansson Peter-Bram A 't Hoen George P Patrinos Hugh Dawkins Monica Ensini Kurt Zatloukal David Koubi Emma Heslop Justin E Paschall Manuel Posada Peter N Robinson Kate Bushby Hanns Lochmüller

J Gen Intern Med 2014 Aug;29 Suppl 3:S780-7

Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK.

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http://dx.doi.org/10.1007/s11606-014-2908-8	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124112	PMC

August 2014

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.

Public Health Genomics 2014 3;17(2):115-23. Epub 2014 Apr 3.

National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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https://www.karger.com/Article/FullText/360602	Publisher Site
http://dx.doi.org/10.1159/000360602	DOI Listing

June 2014

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

Authors:

Gabriele Calizzani Michael Makris Pier Mannuccio Mannucci Domenica Taruscio Giuliano Grazzini Fabrizio Oleari

Blood Transfus 2014 Apr;12 Suppl 3:s492-4

National Institute of Health, Rome, Italy.

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http://dx.doi.org/10.2450/2014.0076-14s	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044794	PMC

April 2014

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

Authors:

Yllka Kodra Marianna Cavazza Arrigo Schieppati Marta De Santis Patrizio Armeni Romano Arcieri Gabriele Calizzani Giovanni Fattore Lamberto Manzoli Lorenzo Mantovani Domenica Taruscio

Blood Transfus 2014 Apr;12 Suppl 3:s567-75

Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy.

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http://dx.doi.org/10.2450/2014.0042-14s	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044804	PMC

April 2014

Current status of Italian Registries on inherited bleeding disorders.

Authors:

Hamisa Jane Hassan Massimo Morfini Domenica Taruscio Francesca Abbonizio Adele Giampaolo Yllka Kodra Emily Oliovecchio Luciano Vittozzi

Blood Transfus 2014 Apr;12 Suppl 3:s576-81

National Centre for Rare Diseases, Italian National Institute of Health, Rome, Italy.

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http://dx.doi.org/10.2450/2014.0017-14s	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044803	PMC

April 2014

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

Blood Transfus 2014 Apr;12 Suppl 3:s591-605

Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy.

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http://dx.doi.org/10.2450/2014.0040-14s	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044801	PMC

April 2014

The Italian National Rare Diseases Registry.

Authors:

Domenica Taruscio Yllka Kodra Gianluca Ferrari Luciano Vittozzi

Blood Transfus 2014 Apr;12 Suppl 3:s606-13

National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.2450/2014.0064-14s	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044798	PMC

April 2014

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

Authors:

Domenica Taruscio Amalia E Gentile Teresinha Evangelista Rosa G Frazzica Kate Bushby Antoni Moliner Montserrat

Blood Transfus 2014 Apr;12 Suppl 3:s621-5

Directorate of Public Health and Risk Assessment, European Commission, Luxembourg, Luxembourg.

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http://dx.doi.org/10.2450/2014.0026-14s	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044812	PMC

April 2014

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

Authors:

Martina C Cornel Tessel Rigter Stephanie S Weinreich Peter Burgard Georg F Hoffmann Martin Lindner J Gerard Loeber Kathrin Rupp Domenica Taruscio Luciano Vittozzi

Eur J Hum Genet 2014 Jan 8;22(1):12-7. Epub 2013 May 8.

National Centre for Rare Diseases, Rome, Italy.

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http://www.nature.com/doifinder/10.1038/ejhg.2013.90	Publisher Site
http://dx.doi.org/10.1038/ejhg.2013.90	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865414	PMC

January 2014

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

Authors:

Catherine L Bladen Karen Rafferty Volker Straub Soledad Monges Angélica Moresco Hugh Dawkins Anna Roy Teodora Chamova Velina Guergueltcheva Lawrence Korngut Craig Campbell Yi Dai Nina Barišić Tea Kos Petr Brabec Jes Rahbek Jaana Lahdetie Sylvie Tuffery-Giraud Mireille Claustres France Leturcq Rabah Ben Yaou Maggie C Walter Olivia Schreiber Veronika Karcagi Agnes Herczegfalvi Venkatarman Viswanathan Farhad Bayat Isis de la Caridad Guerrero Sarmiento Anna Ambrosini Francesca Ceradini En Kimura Janneke C van den Bergen Miriam Rodrigues Richard Roxburgh Anna Lusakowska Jorge Oliveira Rosário Santos Elena Neagu Niculina Butoianu Svetlana Artemieva Vedrana Milic Rasic Manuel Posada Francesc Palau Björn Lindvall Clemens Bloetzer Ayşe Karaduman Haluk Topaloğlu Serap Inal Piraye Oflazer Angela Stringer Andriy V Shatillo Ann S Martin Holly Peay Kevin M Flanigan David Salgado Brigitta von Rekowski Stephen Lynn Emma Heslop Sabina Gainotti Domenica Taruscio Jan Kirschner Jan Verschuuren Kate Bushby Christophe Béroud Hanns Lochmüller

Hum Mutat 2013 Nov 26;34(11):1449-57. Epub 2013 Aug 26.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/humu.22390	DOI Listing

November 2013

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

Authors:

Irene Rocchetti Domenica Taruscio Daniela Pierannunzio

BMC Neurol 2012 Dec 23;12:160. Epub 2012 Dec 23.

ISTAT, Dipartimento per i censimenti e gli archivi amministrativi e statistici, Rome, Italy.

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http://dx.doi.org/10.1186/1471-2377-12-160	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576353	PMC

December 2012

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

Authors:

Renata Linertová Pedro Serrano-Aguilar Manuel Posada-de-la-Paz Manuel Hens-Pérez Panos Kanavos Domenica Taruscio Arrigo Schieppati Rumen Stefanov Márta Péntek Claudia Delgado Johann-Matthias Graf von der Schulenburg Ulf Persson Karine Chevreul Giovanni Fattore Melany Worbes-Cerezo Mark Sefton Julio López-Bastida

Health Policy 2012 Nov 2;108(1):19-26. Epub 2012 Sep 2.

Canary Islands Foundation for Health and Research (FUNCIS), Hospital Universitario de Gran Canaria Dr. Negrin, C/Barranco de la Ballena s/n, 35010 Las Palmas de Gran Canaria, Spain.

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http://dx.doi.org/10.1016/j.healthpol.2012.08.001	DOI Listing

November 2012

Classification and codification of rare diseases.

Authors:

Yllka Kodra Bernardino Fantini Domenica Taruscio

J Clin Epidemiol 2012 Sep 20;65(9):1026-7. Epub 2012 Apr 20.

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http://dx.doi.org/10.1016/j.jclinepi.2012.02.014	DOI Listing

September 2012

The need for worldwide policy and action plans for rare diseases.

Authors:

John Forman Domenica Taruscio Virginia A Llera Luis A Barrera Timothy R Coté Catarina Edfjäll Désirée Gavhed Marlene E Haffner Yukiko Nishimura Manuel Posada Erik Tambuyzer Stephen C Groft Jan-Inge Henter

Acta Paediatr 2012 Aug 11;101(8):805-7. Epub 2012 May 11.

New Zealand Organisation for Rare Disorders, Wellington, New Zealand.

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http://dx.doi.org/10.1111/j.1651-2227.2012.02705.x	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443385	PMC

August 2012

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

Authors:

Peter Burgard Kathrin Rupp Martin Lindner Gisela Haege Tessel Rigter Stephanie S Weinreich J Gerard Loeber Domenica Taruscio Luciano Vittozzi Martina C Cornel Georg F Hoffmann

J Inherit Metab Dis 2012 Jul 28;35(4):613-25. Epub 2012 Apr 28.

Department of Paediatrics, University Hospital - Heidelberg (DE), Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-012-9484-z	DOI Listing

July 2012

Streptococcus suis: a potential risk factor for salivary gland tumors.

Authors:

Vincenzo Falbo Manuela Marra Federica Censi Fabrizio Neri Maria P Foschini Giovanna Floridia Domenica Taruscio

Int J Biol Markers 2011 Oct-Dec;26(4):278-80

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http://dx.doi.org/10.5301/JBM.2011.8882	DOI Listing

June 2012

[Congenital malformations in Italy. A network to monitor the phenomenon].

Authors:

Pietro Carbone Domenica Taruscio Fabrizio Bianchi Elisa Calzolari Gioacchino Scarano

Epidemiol Prev 2011 Sep-Dec;35(5-6 Suppl 2):90-1

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Roma.

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April 2012

[Rare diseases. A national network to benefit early diagnosis and more effective therapies].

Authors:

Domenica Taruscio Yllka Kodra

Epidemiol Prev 2011 Sep-Dec;35(5-6 Suppl 2):92-3

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Roma.

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April 2012

Folic acid and primary prevention of birth defects.

Authors:

Domenica Taruscio Pietro Carbone Orietta Granata Francesca Baldi Alberto Mantovani

Biofactors 2011 Jul-Aug;37(4):280-4

National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1002/biof.175	DOI Listing

March 2012

Predictive medicine and biomarkers: the case of rare diseases.

Authors:

Domenica Taruscio Marco Salvatore Armando Magrelli Rosella Tomanin

Per Med 2012 Mar;9(2):143-146

Laboratory of Diagnosis & Therapy of Lysosomal Storage Disorders, Women's & Children's Health Department University of Padova, Padova, Italy.

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http://dx.doi.org/10.2217/pme.12.17	DOI Listing

March 2012

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

Authors:

Sonia Manca Armando Magrelli Samantha Cialfi Karine Lefort Roberto Ambra Maurizio Alimandi Gianfranco Biolcati Daniela Uccelletti Claudio Palleschi Isabella Screpanti Eleonora Candi Gerry Melino Marco Salvatore Domenica Taruscio Claudio Talora

Exp Dermatol 2011 Nov 14;20(11):932-7. Epub 2011 Sep 14.

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy National Centre for Rare Diseases Istituto Superiore di Sanità, Italy.

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http://doi.wiley.com/10.1111/j.1600-0625.2011.01359.x	Publisher Site
http://dx.doi.org/10.1111/j.1600-0625.2011.01359.x	DOI Listing

November 2011

Rare diseases and orphan drugs.

Authors:

Domenica Taruscio Fiorentino Capozzoli Claudio Frank

Ann Ist Super Sanita 2011 ;47(1):83-93

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.4415/ANN_11_01_17	DOI Listing

July 2011

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

Authors:

Vincenzo Falbo Giovanna Floridia Federica Censi Manuela Marra Maria P Foschini Domenica Taruscio

Oncol Rep 2011 Jul 14;26(1):3-11. Epub 2011 Apr 14.

National Centre for Rare Diseases, Istituto Superiore di Sanità, Via Regina Elena 299, 00161 Rome, Italy.

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http://www.spandidos-publications.com/10.3892/or.2011.1263	Publisher Site
http://dx.doi.org/10.3892/or.2011.1263	DOI Listing

July 2011

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

Authors:

Maria Masocco Yllka Kodra Monica Vichi Susanna Conti Mark Kanieff Monica Pace Luisa Frova Domenica Taruscio

Orphanet J Rare Dis 2011 Mar 25;6:11. Epub 2011 Mar 25.

National Centre for Epidemiology, Surveillance and Health Promotion, Italian National Institute of Health (ISS), Rome, Italy.

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http://dx.doi.org/10.1186/1750-1172-6-11	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3079598	PMC

March 2011

National plans and strategies on rare diseases in Europe.

Authors:

Domenica Taruscio Luciano Vittozzi Rumen Stefanov

Adv Exp Med Biol 2010 ;686:475-91

National Centre for Rare Diseases, Istituto Superiore di Sanità, Viale Regina Elena, Rome, Italy.

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http://link.springer.com/10.1007/978-90-481-9485-8_26	Publisher Site
http://dx.doi.org/10.1007/978-90-481-9485-8_26	DOI Listing

December 2010

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

Reprod Toxicol 2010 Jul 20;29(4):427-32. Epub 2010 Mar 20.

Department of Food Safety and Veterinary Public Health, Veterinary and Food Toxicology Unit Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1016/j.reprotox.2010.03.002	DOI Listing

July 2010

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

Authors:

Federica Censi Vincenzo Falbo Giovanna Floridia Marco Salvatore Fabrizio Tosto Marina De Rosa Nicoletta Resta Paola Izzo Ginevra Guanti Domenica Taruscio

Genet Test Mol Biomarkers 2010 Apr;14(2):175-81

National Centre for Rare Diseases-Istituto Superiore di Sanità, Rome, Italy.

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http://www.liebertpub.com/doi/10.1089/gtmb.2009.0081	Publisher Site
http://dx.doi.org/10.1089/gtmb.2009.0081	DOI Listing

April 2010

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

Authors:

Elisabetta Caprini Cristina Cristofoletti Diego Arcelli Paolo Fadda Mauro Helmer Citterich Francesca Sampogna Armando Magrelli Federica Censi Paola Torreri Marina Frontani Enrico Scala Maria Cristina Picchio Paola Temperani Alessandro Monopoli Giuseppe Alfonso Lombardo Domenica Taruscio Maria Grazia Narducci Giandomenico Russo

Cancer Res 2009 Nov 20;69(21):8438-46. Epub 2009 Oct 20.

Istituto Dermopatico dell'Immacolata-Istituto di Ricovero e Cura a Carattere Scientifico and National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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