Zobrazeno 1 - 10 of 24 pro vyhledávání: '"Yllka, Kodra"'
1
Reflections on the importance of cost of illness analysis in rare diseases: a proposal
Autor: Yllka Kodra, Marianna Cavazza, Domenica Taruscio, Patrizio Armeni, Entela Xoxi
Publikováno v: International Journal of Environmental Research and Public Health
International Journal of Environmental Research and Public Health, Vol 18, Iss 1101, p 1101 (2021)
In the field of rare diseases (RDs), the evidence standard is often lower than that required by health technology assessment (HTA) and payer authorities. In this commentary, we propose that appropriate economic evaluation for rare disease treatments
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41e7e3b74289989ffefbc3357d5dca11
http://hdl.handle.net/11565/4035533
Zobrazit plný text záznamu
2
Rare pathogenic copy number variation in the 16p11.2 (BP4–BP5) region associated with neurodevelopmental and neuropsychiatric disorders: a review of the literature
Autor: Goran Cuturilo, Jeanne Wolstencroft, Natália Oliva-Teles, Adrian J. Harwood, David Skuse, Yllka Kodra, Severin Rakic, Silvana Markovska-Simoska, Louise Gallagher, Maria Chiara de Stefano, Paula Jorge, Isabella Borg, Zeynep Tümer
Publikováno v: Oliva-Teles, N, de Stefano, M C, Gallagher, L, Rakic, S, Jorge, P, Cuturilo, G, Markovska-Simoska, S, Borg, I, Wolstencroft, J, Tümer, Z, Harwood, A J, Kodra, Y & Skuse, D 2020, ' Rare pathogenic copy number variation in the 16p11.2 (bp4–bp5) region associated with neurodevelopmental and neuropsychiatric disorders : A review of the literature ', International Journal of Environmental Research and Public Health, vol. 17, no. 24, 9253, pp. 1-16 . https://doi.org/10.3390/ijerph17249253
International Journal of Environmental Research and Public Health
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
International Journal of Environmental Research and Public Health, Vol 17, Iss 9253, p 9253 (2020)
Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4-BP5) harbours both deletions and duplications that are associated in carriers with n
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc8847ed8838c41fbc243fab338ac11
https://orca.cardiff.ac.uk/id/eprint/137241/1/RARE-P~1.PDF
Zobrazit plný text záznamu
3
The EuRRECa project as a model for data access and governance policies for rare disease registries that collect clinical outcomes
Autor: Li En Tan, Olaf Hiort, Luca Persani, Jillian Bryce, Natasha M. Appelman-Dijkstra, Salma R Ali, Erica L T van den Akker, Olaf M. Dekkers, Martine Cools, Arelene Smyth, Yllka Kodra, S Faisal Ahmed, Alberto M. Pereira, Domenica Taruscio, Jérôme Bertherat, Christopher Smythe
Publikováno v: International Journal of Environmental Research and Public Health
International Journal of Environmental Research and Public Health, 17(23). MDPI
International Journal of Environmental Research and Public Health, 17(23):8743, 1-12. Multidisciplinary Digital Publishing Institute (MDPI)
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
Rare disease (RD) registries are important platforms that facilitate communication between health care professionals, patients and other members of the multidisciplinary team. RD registries enable data sharing and promotion of research and audits, of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c457bcd7974dd0dbcc3f15a8ee3d512
https://hdl.handle.net/1887/3184723
Zobrazit plný text záznamu
4
Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome
Autor: Marianna Cavazza, Yllka Kodra, Marta De Santis, Andrea Guala, Maria-Elena Liverani, Maura Masini, Domenica Taruscio, Patrizio Armeni
Publikováno v: International Journal of Environmental Research and Public Health
Volume 17
Issue 16
International Journal of Environmental Research and Public Health, Vol 17, Iss 5951, p 5951 (2020)
Background: Cri du Chat syndrome (CdC) is a rare disease caused by the deletion on the short arm of the chromosome 5, with an incidence of 1:15,000 to 1:50,000 live-born infants. No study at international level has assessed the costs, Quality of Life
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f44e96f1722767ecfa67ff764bc95ef2
Zobrazit plný text záznamu
5
Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy
Autor: Giada Minelli, Laura Cristoferi, Marco Carbone, Pietro Invernizzi, Annarosa Floreani, Alessio Gerussi, Valerio Manno, Yllka Kodra, Federica Malinverno, Adele Rocchetti, Vincenzo Ronca, Domenica Taruscio, Susanna Conti
Publikováno v: International Journal of Environmental Research and Public Health
Volume 17
Issue 9
International Journal of Environmental Research and Public Health, Vol 17, Iss 3095, p 3095 (2020)
Introduction: Studies on the epidemiology of primary sclerosing cholangitis (PSC) are mainly based on tertiary referral centers
and are retrospective case series susceptible to selection bias. The aim of this study was to estimate incidence
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0389d21e474fd9207808bcae38e67ba
Zobrazit plný text záznamu
6
The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease Registry
Autor: Jillian Bryce, Salma R Ali, Luca Persani, Syed Faisal Ahmed, Domenica Taruscio, Yllka Kodra
Publikováno v: International Journal of Environmental Research and Public Health, Vol 18, Iss 11968, p 11968 (2021)
International Journal of Environmental Research and Public Health
Volume 18
Issue 22
Rare disease (RD) registries aim to promote data collection and sharing, and facilitate multidisciplinary collaboration with the overall aim of improving patient care. Recommendations relating to the minimum standards necessary to develop and maintai
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2116863519235194e970aa14e1f5a76e
https://doi.org/10.3390/ijerph182211968
Zobrazit plný text záznamu
8
Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider
Autor: Claudio Carta, Giuseppe Turchetti, Andrea Gaglioti, Sara Cannizzo, Mojgan Azadegan, Diana Marinello, Rosaria Talarico, Simone Ticciati, Domenica Taruscio, Yllka Kodra, Marta Mosca
Publikováno v: International Journal of Environmental Research and Public Health
International Journal of Environmental Research and Public Health, Vol 17, Iss 8694, p 8694 (2020)
The unexpected outbreak of the COVID-19 disease had significant and enormous repercussions on the healthcare systems, such as the need to reorganise healthcare organisations in order to concentrate resources needed to the care of COVID-19 patients an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f5297869190d201bbc444d4b0b3e17
https://doi.org/10.3390/ijerph17228694
Zobrazit plný text záznamu
9
Recommendations for Improving the Quality of Rare Disease Registries
Autor: Paul Landais, Heimo Müller, Deborah Mascalzoni, Virginie Bros-Facer, Yllka Kodra, Ronald Cornet, Daniel Renault, Paola Torreri, Claudio Carta, Marco Roos, Marieke Van Meel, Alessio Coi, Annika Jacobsen, Veronica Popa, Manuel Posada-de-la-Paz, Yaffa R. Rubinstein, Rainald von Gizycki, S Faisal Ahmed, Michele Santoro, Estrella Lopez, Robert Reis, Jérôme Weinbach, David van Enckevort, Domenica Taruscio, S Lydie Lemonnier, Anna Ambrosini, Sabina Gainotti, Hanns Lochmüller, Fabrizio Bianchi
Publikováno v: International Journal of Environmental Research and Public Health, 15(8)
International Journal of Environmental Research and Public Health
Repisalud
Instituto de Salud Carlos III (ISCIII)
International Journal of Environmental Research and Public Health, Vol 15, Iss 8, p 1644 (2018)
Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information sys
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ade81687afb2be56949118ac12a5edc
http://hdl.handle.net/1887/86526
Zobrazit plný text záznamu
10
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
Autor: Claudio Carta, Paola Torreri, Vanessa Rangel Miller, Domenica Taruscio, Federico de Paulis, Estrella López Martín, Dorota Mazena Badowska, Marco Roos, Chiuhui Mary Wang, Sabina Gainotti, Mark Thompson, Mirella Filocamo, Marina Mora, Heimo Mueller, Hanns Lochmüller, Robert Reihs, Yllka Kodra, Lucia Monaco, Emma Heslop, Yaffa R. Rubinstein, Manuel Posada de la Paz
Publikováno v: Repisalud
Instituto de Salud Carlos III (ISCIII)
European Journal of Human Genetics, 26(5), 631-643
In rare disease (RD) research, there is a huge need to systematically collect biomaterials, phenotypic, and genomic data in a standardized way and to make them findable, accessible, interoperable and reusable (FAIR). RD-Connect is a 6 years global in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b94bdf0dad723261ebf90cc5f551274
http://hdl.handle.net/20.500.12105/11233
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje