Domenica Taruscio

Domenica Taruscio

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Domenica Taruscio

Publications by authors named "Domenica Taruscio"

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

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/hep4.1407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719751PMC
September 2019

Health systems sustainability for rare diseases. Preface.

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_09DOI Listing
September 2019

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

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_11DOI Listing
September 2019

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

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_12DOI Listing
September 2019

Policies and actions to tackle rare diseases at European level.

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_17DOI Listing
September 2019

Competing to raise awareness of rare diseases.

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-XDOI Listing
August 2019

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

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/s13023-019-1126-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6595697PMC
June 2019

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

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.P001.001DOI Listing
November 2018

[Rare diseases in post-genomic era.]

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

Centro Nazionale Malattie Rare.

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http://dx.doi.org/10.1701/2731.27836DOI Listing
October 2018

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

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/ijerph15071470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068991PMC
July 2018

Privacy-Preserving Linkage of Genomic and Clinical Data Sets.

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.2018.2855125DOI Listing
July 2018

P4 Medicine versus Hippocrates.

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_02DOI Listing
June 2018

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

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
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http://dx.doi.org/10.1007/978-3-319-67144-4_2DOI Listing
June 2018

Data Quality in Rare Diseases Registries.

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_8DOI Listing
June 2018

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

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_31DOI Listing
June 2018

Health Systems Sustainability and Rare Diseases.

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_33DOI Listing
June 2018

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

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_02DOI Listing
April 2018

Sustainable public health systems for rare diseases.

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_16DOI Listing
April 2018

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

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/10.1159/000464100DOI Listing
January 2018

Exploring the usability of EUCERD core indicators for rare diseases.

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_15DOI Listing
February 2017

The Quality of Rare Disease Registries: Evaluation and Characterization.

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/10.1159/000444476DOI Listing
February 2017

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

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.2016.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110051PMC
November 2016

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

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/10.1159/000435852DOI Listing
June 2016

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

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.2015.11.003DOI Listing
December 2015

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

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/10.1159/000379739DOI Listing
August 2015

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

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/10.1159/000369993DOI Listing
July 2015

Rare diseases research and practice.

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/10.1159/000363670DOI Listing
June 2015

The role of microRNAs in the biology of rare diseases.

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
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http://dx.doi.org/10.3390/ijms12106733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3211006PMC
November 2014

Current status of Italian Registries on inherited bleeding disorders.

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/10.2450/2014.0017-14sDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044803PMC
April 2014

The Italian National Rare Diseases Registry.

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/10.2450/2014.0064-14sDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044798PMC
April 2014

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

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/10.1186/1471-2377-12-160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576353PMC
December 2012

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

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.2012.08.001DOI Listing
November 2012

Classification and codification of rare diseases.

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.2012.02.014DOI Listing
September 2012

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

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].

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.

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.175DOI Listing
March 2012

Predictive medicine and biomarkers: the case of rare diseases.

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.12.17DOI Listing
March 2012

Rare diseases and orphan drugs.

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_17DOI Listing
July 2011

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

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
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http://dx.doi.org/10.3892/or.2011.1263DOI Listing
July 2011

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

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/10.1186/1750-1172-6-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3079598PMC
March 2011

National plans and strategies on rare diseases in Europe.

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
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http://dx.doi.org/10.1007/978-90-481-9485-8_26DOI Listing
December 2010

Health-related quality of life in patients with neurofibromatosis type 1. A survey of 129 Italian patients.

Dermatology 2009 17;218(3):215-20. Epub 2008 Dec 17.

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

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https://www.karger.com/Article/FullText/187594
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http://dx.doi.org/10.1159/000187594DOI Listing
June 2009

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

Folia Med (Plovdiv) 2008 Oct-Dec;50(4):17-23

Department of Cell Biology and Neurosciences, National Centre for Rare Diseases, Rome, Italy.

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March 2009

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

Genet Test Mol Biomarkers 2009 Feb;13(1):31-6

Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1089/gtmb.2008.0072DOI Listing
February 2009

The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey.

Genet Test 2008 Jun;12(2):279-88

Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, National Centre for Rare Diseases, Rome, Italy.

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http://dx.doi.org/10.1089/gte.2007.0099DOI Listing
June 2008

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

Paediatr Perinat Epidemiol 2008 May;22(3):249-60

Department of Animal and Human Biology, University of Rome La Sapienza, Rome, Italy.

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http://dx.doi.org/10.1111/j.1365-3016.2007.00918.xDOI Listing
May 2008

Tackling rare diseases at European level: why do we need a harmonized framework?

Folia Med (Plovdiv) 2007 ;49(1-2):59-67

National Centre Rare Diseases, Istituto Superiore di Sanità, Roma.

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January 2008

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

J Paediatr Child Health 2007 Dec 4;43(12):826-30. Epub 2007 Sep 4.

Institute of Neurology, University of Cattolica, Roma, Italy.

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http://dx.doi.org/10.1111/j.1440-1754.2007.01200.xDOI Listing
December 2007

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

Med J Aust 2007 Jul;187(2):74-6

WentWest Ltd, Sydney, NSW, Australia.

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July 2007