Taruscio, D.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

The Current Situation and Needs of Rare Disease Registries in Europe

Taruscio, D., Gainotti, S., Mollo, E., Vittozzi, L., Bianchi, F., Ensini, M., Posada, M.

Journal:

Public Health Genomics

Year:

2013

Language:

english

File:

PDF, 112 KB

english, 2013

2

Expanded Newborn Screening: A Chess Board Motif in Public Health

Polizzi, Agata, Carbone, Pietro, Taruscio, Domenica

Journal:

Journal of Pediatric Biochemistry

Year:

2016

Language:

english

File:

PDF, 84 KB

english, 2016

3

[Advances in Experimental Medicine and Biology] Rare Diseases Epidemiology: Update and Overview Volume 1031 || Incentivizing Orphan Product Development: United States Food and Drug Administration Orphan Incentive Programs

Posada de la Paz, Manuel, Taruscio, Domenica, Groft, Stephen C.

Year:

2017

Language:

english

File:

PDF, 212 KB

english, 2017

4

[Advances in Experimental Medicine and Biology] Rare Diseases Epidemiology: Update and Overview Volume 1031 || Cost-Effectiveness Methods and Newborn Screening Assessment

Posada de la Paz, Manuel, Taruscio, Domenica, Groft, Stephen C.

Year:

2017

Language:

english

File:

PDF, 265 KB

english, 2017

5

[Advances in Experimental Medicine and Biology] Rare Diseases Epidemiology: Update and Overview Volume 1031 || Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data

Posada de la Paz, Manuel, Taruscio, Domenica, Groft, Stephen C.

Year:

2017

Language:

english

File:

PDF, 256 KB

english, 2017

6

The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience

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

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 101 KB

english, 2010

7

A Model for the European Platform for Rare Disease Registries

Vittozzi, L., Gainotti, S., Mollo, E., Donati, C., Taruscio, D.

Journal:

Public Health Genomics

Year:

2013

Language:

english

File:

PDF, 99 KB

english, 2013

8

[Advances in Experimental Medicine and Biology] Rare Diseases Epidemiology: Update and Overview Volume 1031 || Preparing Data at the Source to Foster Interoperability across Rare Disease Resources

Posada de la Paz, Manuel, Taruscio, Domenica, Groft, Stephen C.

Year:

2017

Language:

english

File:

PDF, 370 KB

english, 2017

9

Novel insights in primary biliary cholangitis (PBC) epidemiology using administrative records

Gerussi, A., Manno, V., Carbone, M., Minelli, G., Taruscio, D., Conti, S., Invernizzi, P.

Journal:

Digestive and Liver Disease

Year:

2019

Language:

english

File:

PDF, 314 KB

english, 2019

10

Clinical characteristics of individuals with Down syndrome deceased with CoVIDâ19 in ItalyâA case series

Villani, Emanuele Rocco, CarfÃ¬, Angelo, Di Paola, Antonella, Palmieri, Luigi, Donfrancesco, Chiara, Lo Noce, Cinzia, Taruscio, Domenica, Meli, Paola, Salerno, Paolo, Kodra, Yllka, Pricci, Flavia, Tam

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 933 KB

2020

11

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

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 624 KB

english, 2011

12

The Undiagnosed Diseases Network International: Five years and more!

Taruscio, D., Baynam, G., Cederroth, H., Groft, S.C., Klee, E.W., Kosaki, K., Lasko, P., Melegh, B., Riess, O., Salvatore, M., Gahl, W.A.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 1.55 MB

2020

13

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

Taruscio, D, Morciano, C, Laricchiuta, P, Mincarone, P, Palazzo, F, Leo, CG, Sabina, S, Guarino, R, Auld, J, Sejersen, T, Gavhed, D, Ritchie, K, Hilton-Boon, M, Manson, J, Kanavos, PG, Tordrup, D, Tzo

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 230 KB

english, 2014

14

European Project for Rare Diseases National Plans Development (EUROPLAN)

Domenica Taruscio, Luciano Vittozzi

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 179 KB

english, 2010

15

A Review of the Effects and Mechanisms of Polyphenolics in Cancer

Nichenametla, Sailendra N., Taruscio, Todd G., Barney, Danny L., Exon, Jerry H.

Journal:

Critical Reviews in Food Science and Nutrition

Year:

2006

Language:

english

File:

PDF, 878 KB

english, 2006

16

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

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 349 KB

english, 2014

17

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

Chevreul, Karine, Michel, Morgane, Brigham, Karen Berg, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Schieppati, A

Journal:

The European Journal of Health Economics

Year:

2016

Language:

english

File:

PDF, 490 KB

english, 2016

18

Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome

Kodra, Yllka, Cavazza, Marianna, de Santis, Marta, Guala, Andrea, Liverani, Maria-Elena, Armeni, Patrizio, Masini, Maura, Taruscio, Domenica

Journal:

International Journal of Environmental Research and Public Health

Year:

2020

File:

PDF, 796 KB

2020

19

Eleven chromosomal integration sites of a human endogenous retrovirus (HERV 4-1) map close to known loci of thirteen hereditary malformation syndromes

Taruscio, Domenica, Mantovani, Alberto

Journal:

Year:

1996

Language:

english

File:

PDF, 254 KB

english, 1996

20

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

Domenica Taruscio, Alberto Mantovani, Anna Velia Stazi

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2003

Language:

english

File:

PDF, 54 KB

english, 2003

21

Generation and characterization of a human chromosome 9 cosmid library

Sharon L. Graw, Alan J. Buckler, Deborah E. Britt, Cynthia L. Jackson, Domenica Taruscio, Antonio Baldini, David C. Ward, David E. Housman

Journal:

Somatic Cell and Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.30 MB

english, 1992

22

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

Irene Rocchetti, Domenica Taruscio, Daniela Pierannunzio

Journal:

Year:

2012

Language:

english

File:

PDF, 688 KB

english, 2012

23

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

Felice Giordano, Pietro Carbone, Fiammetta Nori, Alberto Mantovani, Domenica Taruscio, Irene Figà-Talamanca

Journal:

Paediatric and Perinatal Epidemiology

Year:

2008

Language:

english

File:

PDF, 113 KB

english, 2008

24

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

P. Carbone, F. Giordano, F. Nori, A. Mantovani, D. Taruscio, L. Lauria, I. Figà-Talamanca

Journal:

Reproductive Toxicology

Year:

2006

Language:

english

File:

PDF, 136 KB

english, 2006

25

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

Fountain, Jane W., Karayiorgou, Maria, Taruscio, Domenica, Graw, Sharon L., Buckler, Alan J., Ward, David C., Dracopoli, Nicholas C., Housman, David E.

Journal:

Year:

1992

Language:

english

File:

PDF, 3.07 MB

english, 1992

26

The Italian Scheme of External Quality Assessment for β-Thalassemia: Genotyping and Reporting Results and Testing Strategies in a 5-Year Survey

Tosto, Fabrizio, Salvatore, Marco, Falbo, Vincenzo, Floridia, Giovanna, Censi, Federica, Bombieri, Cristina, Rosatelli, Maria Cristina, Taruscio, Domenica

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 94 KB

english, 2009

27

[Advances in Experimental Medicine and Biology] Rare Diseases Epidemiology: Update and Overview Volume 1031 || Microphysiological Systems (Tissue Chips) and their Utility for Rare Disease Research

Posada de la Paz, Manuel, Taruscio, Domenica, Groft, Stephen C.

Year:

2017

Language:

english

File:

PDF, 209 KB

english, 2017

28

Folic acid and primary prevention of birth defects

Domenica Taruscio, Pietro Carbone, Orietta Granata, Francesca Baldi, Alberto Mantovani

Journal:

Year:

2011

Language:

english

File:

PDF, 72 KB

english, 2011

29

Factors regulating endogenous retroviral sequences in human and mouse

Taruscio, D., Mantovani, A.

Journal:

Cytogenetic and Genome Research

Year:

2004

Language:

english

File:

PDF, 126 KB

english, 2004

30

The Role of microRNAs in the Biology of Rare Diseases

Salvatore, Marco, Magrelli, Armando, Taruscio, Domenica

Journal:

International Journal of Molecular Sciences

Year:

2011

Language:

english

File:

PDF, 178 KB

english, 2011

31

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

Iskrov, Georgi, Astigarraga, Itziar, Stefanov, Rumen, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Schieppati, Arrigo, Taruscio, Domen

Journal:

The European Journal of Health Economics

Year:

2016

Language:

english

File:

PDF, 939 KB

english, 2016

32

[Advances in Experimental Medicine and Biology] Rare Diseases Epidemiology: Update and Overview Volume 1031 || Rare Neurodegenerative Diseases: Clinical and Genetic Update

Posada de la Paz, Manuel, Taruscio, Domenica, Groft, Stephen C.

Year:

2017

Language:

english

File:

PDF, 513 KB

english, 2017

33

[Advances in Experimental Medicine and Biology] Rare Diseases Epidemiology: Update and Overview Volume 1031 || Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis

Posada de la Paz, Manuel, Taruscio, Domenica, Groft, Stephen C.

Year:

2017

Language:

english

File:

PDF, 235 KB

english, 2017

34

Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider

Talarico, Rosaria, Marinello, Diana, Cannizzo, Sara, Gaglioti, Andrea, Ticciati, Simone, Carta, Claudio, Kodra, Yllka, Azadegan, Mojgan, Taruscio, Domenica, Mosca, Marta, Turchetti, Giuseppe

Journal:

International Journal of Environmental Research and Public Health

Year:

2020

File:

PDF, 285 KB

2020

35

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

Taruscio, Domenica, Mantovani, Alberto

Journal:

Year:

1998

Language:

english

File:

PDF, 35 KB

english, 1998

36

[Advances in Experimental Medicine and Biology] Rare Diseases Epidemiology: Update and Overview Volume 1031 || Intellectual Disability & Rare Disorders: A Diagnostic Challenge

Posada de la Paz, Manuel, Taruscio, Domenica, Groft, Stephen C.

Year:

2017

Language:

english

File:

PDF, 422 KB

english, 2017

37

Using adverse outcome pathways to identify exogenous risk factors for rare diseases

Mantovani, Alberto, Carta, Claudio, Taruscio, Domenica, Ehrhart, Friederike, Evelo, Chris T.

Journal:

Reproductive Toxicology

Year:

2019

Language:

english

File:

PDF, 75 KB

english, 2019

38

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

S. Cialfi, C. Oliviero, S. Ceccarelli, C. Marchese, L. Barbieri, G. Biolcati, D. Uccelletti, C. Palleschi, L. Barboni, C. De Bernardo, P. Grammatico, A. Magrelli, M. Salvatore, D. Taruscio, L. Frati,

Journal:

British Journal of Dermatology

Year:

2010

Language:

english

File:

PDF, 371 KB

english, 2010

39

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 465 KB

english, 2012

40

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

Kodra, Yllka, Giustini, Sandra, Divona, Luigina, Porciello, Roberto, Calvieri, Stefano, Wolkenstein, Pierre, Taruscio, Domenica

Journal:

Year:

2009

Language:

english

File:

PDF, 113 KB

english, 2009

41

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

Kuhlmann, A., Schmidt, T., Treskova, M., López-Bastida, J., Linertová, R., Oliva-Moreno, J., Serrano-Aguilar, P., Posada-de-la-Paz, M., Kanavos, P., Taruscio, D., Schieppati, A., Iskrov, G., Péntek, M

Journal:

The European Journal of Health Economics

Year:

2016

Language:

english

File:

PDF, 467 KB

english, 2016

42

Detection of Trisomy 12 on Ovarian Sex Cord Stromal Tumors by Fluorescence In Situ Hybridization

Taruscio, Domenica, Carcangiu, Maria Luisa, Ward, David C.

Journal:

Diagnostic Molecular Pathology

Year:

1993

File:

PDF, 427 KB

1993

43

Serum LDH Concentration in Non-Hodgkin’s Lymphomas

Fasola, Gianpiero, Fanin, Renato, Gherlinzoni, Filíppo, Galieni, Piero, Taruscio, Domenica, Frezza, Giovanni, Mazza, Patrizio, Pileri, Stefano, Baccarani, Michele

Journal:

Acta Haematologica

Year:

2009

Language:

english

File:

PDF, 743 KB

english, 2009

44

[Advances in Experimental Medicine and Biology] Rare Diseases Epidemiology: Update and Overview Volume 1031 || Bridging the Gap between Health and Social Care for Rare Diseases: Key Issues and Innovative Solutions

Posada de la Paz, Manuel, Taruscio, Domenica, Groft, Stephen C.

Year:

2017

Language:

english

File:

PDF, 349 KB

english, 2017

45

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

F. Malchiodi Albedi, A. M. Cassano, F. Ciaralli, D. Taruscio, G. Donelli

Journal:

Histochemistry and Cell Biology

Year:

1989

Language:

english

File:

PDF, 3.89 MB

english, 1989

46

Human Endogenous Retroviral Sequences: Possible Roles in Reproductive Physiopathology

Journal:

Biology of Reproduction

Year:

1998

Language:

english

File:

PDF, 153 KB

english, 1998

47

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

López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Kanavos, Panos, Taruscio, Domenica, Schieppati, Arrigo, Iskrov, Georgi, Péntek, Márta, De

Journal:

The European Journal of Health Economics

Year:

2016

Language:

english

File:

PDF, 479 KB

english, 2016

48

[Advances in Experimental Medicine and Biology] Rare Diseases Epidemiology: Update and Overview Volume 1031 || New Therapeutic Uses for Existing Drugs

Posada de la Paz, Manuel, Taruscio, Domenica, Groft, Stephen C.

Year:

2017

Language:

english

File:

PDF, 275 KB

english, 2017

49

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

Dr. Domenica Taruscio, Thomas Ried, David C. Ward, Maria Luisa Carcangiu

Journal:

Genes, Chromosomes and Cancer

Year:

1994

Language:

english

File:

PDF, 506 KB

english, 1994

50

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

M Zuntini, M Salvatore, E Pedrini, A Parra, F Sgariglia, A Magrelli, D Taruscio, L Sangiorgi

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 845 KB

english, 2010

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски