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Curso: Carácter: Optativo Bibliografía validada el: 28/05/2023 |
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BB | Aymé S. The importance of review articles in making the voice of rare diseases Heard. OJRD 10th Anniversary. Orphanet J Rare Dis 2016 28;11(1):71. doi: 10.1186/s13023-016-0456-5.
@libro - Disponible en formato electrónico |
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BB | Boettcher J, Boettcher M, Wiegand-Grefe S, Zapf H. Being the Pillar for Children with Rare Diseases-A Systematic Review on Parental Quality of Life. Int J Environ Res Public Health. 2021 May 8;18(9):4993. doi: 10.3390/ijerph18094993. PMID: 34066738 Free PMC article. Review.
@libro - Disponible en formato electrónico |
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BB | Cassidy SB, Shwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012:14(1):10–26.
@libro - Disponible en formato electrónico |
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BB | Danielsson K1, Mun LJ, Lordemann A, Mao J, Lin CH. Next-generation sequencing applied to rare diseases genomics. Expert Rev Mol Diagn. 2014 May;14(4):469-87. doi: 10.1586/14737159.2014.904749. Epub 2014 Apr 4.
@libro - Disponible en formato electrónico |
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BB | Darras BT. Spinal Muscular Atrophies. Pediatr Clin North Am. 2015 Jun;62(3):743-766. Epub 2015 Apr 11 |
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BB | Evangelista T, Hedley V, Atalaia A, Johnson M, Lynn S, Le Cam Y, Bushby K. The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks. Orphanet J Rare Dis 2016; 4;11-17
@libro - Disponible en formato electrónico |
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BB | Ferlini A, Scotton C, Novelli G. Biomarkers in rare diseases. Public Health Genomics. 2013;16(6):313-21. doi: 10.1159/000355938. Epub 2014 Feb 3
@libro - Disponible en formato electrónico |
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BB | García-Pérez L, Linertová R, Valcárcel-Nazco C, Posada M, Gorostiza I, Serrano-Aguilar P.Cost-of-illness studies in rare diseases: a scoping review. Orphanet J Rare Dis. 2021 Apr 13;16(1):178. doi: 10.1186/s13023-021-01815-3. PMID: 33849613
@libro - Disponible en formato electrónico |
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BB | Klimova B, Storek M, Valis M, Kuca K. Global View on Rare Diseases: A Mini Review. Curr Med Chem. 2017;24(29):3153-3158. doi: 10.2174/0929867324666170511111803. PMID: 28494745 Review. |
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BB | McLennan Y, Polussa J, Tassone F, Hagerman R. Fragile X Syndrome. Current Genomics, 2011; 12; 216-224
@libro - Disponible en formato electrónico |
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BB | Montserrat Moliner A; Waligora J. The european union policy in the field of rare diseases. Public Health Genomics. 2013;16(6):268-77. doi: 10.1159/000355930. Epub 2014 Feb 3.
@libro - Disponible en formato electrónico |
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BB | Paz S, Torrent J, Poveda JL, Perez J, Moreno JL, Martin A, Gonzalez L, Cruz J, Comellas M, Abaitua I, Urcelay J. Experts consensus on the future of Rare Diseases care and orphan drugs access, Spain: A Delphi Study. Value Health 2015; 18(7):A679.
@libro - Disponible en formato electrónico |
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BB | Schaff J, Sedlmayr M, Schaefer J, Storf H. Diagnosis of Rare Diseases: a scoping review of clinical decision support systems. Orphanet Journal of Rare Diseases. 2020;15(1):1–14. DOI 10.1186/s13023-020-01536-z.
@libro - Disponible en formato electrónico |
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BB | Taruscio D, Gentile AE, De Santis M, Ferrelli RM, Posada de la Paz M, Hens M, Huizer J, Fregonese L, Stefanov R, Bottarelli V, Weinman A, Le Cam Y, Gavhed D, Mincarone P, Bushby K, Frazzica RG, Donati C, Vittozzi L, Jessop E.. EUROPLAN: a project to support the development of national plans on rare diseases in Europe. Public Health Genomics. 2013;16(6):278-87. doi: 10.1159/000355932. Epub 2014 Feb 3.
@libro - Disponible en formato electrónico |
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BC | Kerr K, McAneney H, McKnight AJ. Protocol for a scoping review of multi-omic analysis for rare diseases. BMJ Open. 2019 May 5;9(5):e026278. doi: 10.1136/bmjopen-2018-026278. PMID: 31061034 Free PMC article.
@libro - Disponible en formato electrónico |
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Bridget Wilcken, Veronica Wiley, Judith Hammond, Kevin Carpenter. Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry. En: N Engl J Med 2003;348:2304-12. [PUBLICACIÓN PERIÓDICA] |
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Castelo-Branco, Camil. Management of Turner syndrome in adult life and beyond. En: Maturitas 79 (2014) 471–475. |
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Cornelia de Lange syndrome. Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer ZClin Genet. 2015 Jul;88(1):1-12. doi: 10.1111/cge.12499. Epub 2014 Oct 28. . |
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Evangelista T, Hedley V, Atalaia A, Johnson M, Lynn S, Le Cam Y, Bushby K.The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks, Orphanet J Rare Dis 2016; 4;11-17 |
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García Ribes M. 2006-2016: Diez años de inmersión en el mundo de las enfermedades raras. Aten Primaria 2016; 48(4):217-218 |
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GeneReviews |
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Hum Genet (2014) 133:417–424. DOI 10.1007/s00439-014-1420-x Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaicswith a rescue cell line, implying an origin by mitotic loss. Ernest B. Hook · Dorothy Warburton |
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Inborn Errors of Metabolism: Advances in Diagnosis and Therapy. Hilary J. Vernon. - JAMA Pediatr. Published online June 15, 2015. doi:10.1001/jamapediatrics.2015.0754. |
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Microdeletion and Microduplication Syndromes Anja Weise,Kristin Mrasek, Elisabeth Klein, Milene Mulatinho, Juan C. Llerena, Jr., David Hardekopf, Sona Pekova, Samarth Bhatt, Nadezda Kosyakova, and Thomas Liehr. J Histochem Cytochem. 2012 May; 60(5): 346–358. |
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Noonan syndrome and clinically related disorders. Marco Tartaglia, Bruce D. Gelb, Martin Zenker. - En: Best Practice & Research Clinical Endocrinology & Metabolism 25 (2011) 161–179. |
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OMIM: Online Mendelian Inheritance in Man |
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Orphranet journal of Rare Diseases: The importance of review articles in making the voice of rare diseases heard: OJRD’s 10th anniversary |
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Rare Diseases 1, e23579; 2013. Supriya Bavisetty, Wayne W. Grody and Shahram Yazdani. En:Emergence of pediatric rare diseases. Review of present policies and opportunities for improvement. |
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Thomas D Bird. Myotonic Dystrophy Type 1. En: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. |
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Web de FEDER. Federación Española de Enfermedades Raras |
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Web sobre las Enfermedades Raras en España |
| Bueno Lozano, María Gloria 1 | |
| Ramos Fuentes, Feliciano Jesús 2 | |
| Rodríguez Martínez, Gerardo 1 | |
| Samper Villagrasa, María Pilar 1 |
