المساهمون: Hwang, Cheol-Sang, Sukalo, Maja, Batygin, Olga, Addor, Marie-Claude, Brunner, Han, Perez Aytes, Antonio, Mayerle, Julia, Song, Hyun Kyu, Varshavsky, Alexander, Zenker, Martin

الاتاحة: http://data.europeana.eu/aggregation/europeana/2048441/item_YCVVNYXV6TKCEOIZU2DQCEKOHPCOJQRD

المؤلفون: Kaiser, Frank J, Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J, Fincher, Christopher T, Kaur, Maninder, Bando, Masashige, Amor, David J, Atwal, Paldeep S, Bahlo, Melanie, Bowman, Christine M, Bradley, Jacquelyn J, Brunner, Han G, Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J, Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D, Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M, Yntema, Helger, Innes, A Micheil, Kline, Antonie D, Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B, Mannini, Linda, McKee, Shane, Mehta, Sarju G, Micule, Ieva, Care4Rare Canada Consortium, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R, Moser, Joe-Ann S, Noon, Sarah E, Nozaki, Naohito, Nunes, Luis, Pappas, John G, Penney, Lynette S, Pérez-Aytés, Antonio, Petersen, Michael B, Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E, Schindeler, Karen L, Siu, Victoria M, Stark, Zornitza, Strom, Samuel P, Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C, University of Washington Center for Mendelian Genomics, Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J, Jackson, Laird G, Shirahige, Katsuhiko, Pié, Juan, Christianson, David W, Krantz, Ian D, Fitzpatrick, David R, Deardorff, Matthew A

المصدر: Human molecular genetics. 23(11)

مصطلحات موضوعية: Care4Rare Canada Consortium, University of Washington Center for Mendelian Genomics, Humans, Hypertelorism, De Lange Syndrome, Eye Abnormalities, Histone Deacetylases, Repressor Proteins, Cohort Studies, Sequence Alignment, Amino Acid Sequence, Phenotype, Mutation, Missense, Molecular Sequence Data, Child, Child, Preschool, Infant, Female, Male, Genes, X-Linked, Cranial Fontanelles, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/77x9r19n

المؤلفون: Nicolás Jiménez, María Pilar, Pàmpols Ros, Teresa, García López, Fernando José, Martín Arribas, Concepción, Pérez Aytés, Antonio, García Sagredo, José Miguel, Díaz de Bustamante, Aránzazu, Dulín Iñiguez, Elena, Labrador Cañadas, Mª Vicenta

مصطلحات موضوعية: cribado neonatal, cribado genético, salud pública, prestación sanitaria, información y consentimiento, representantes legales, neonatal screening, genetic screening, public health, health care provision, information and consent, legal representatives

Relation: Revista espanola de salud pública 95 : (2021) // Article ID e202101018; http://hdl.handle.net/10810/55170

الاتاحة: http://hdl.handle.net/10810/55170

المؤلفون: Pàmpols Ros, Teresa, Pérez Aytés, Antonio, García Sagredo, José Miguel, Díaz de Bustamante, Aránzazu, Martín Arribas, Concepción, García López, Fernando José, Nicolás Jiménez, María Pilar, Dulín Iñiguez, Elena, Labrador Cañadas, Mª Vicenta

مصطلحات موضوعية: cribado neonatal, prueba del talón, cribado genético, cribado neonatal de enfermedades raras, cribado neonatal de enfermedades endocrino metabólicas, aspectos éticos del cribado neonatal, ética de salud pública, principios de Wilson y Jungner, aspectos éticos, legales y sociales (AELS), newborn screenin, blood spot screening, genetic screening, rare disease screening, ethical issues in new - born screening, public health ethics, Wilson-Jungner criteria, ethical, legal and social issues (ELSIEs)

Relation: Revista espanola de salud pública 95 : (2021) // Article ID e202101008; http://hdl.handle.net/10810/55168

الاتاحة: http://hdl.handle.net/10810/55168

المؤلفون: Nicolás Jiménez, Pilar, Pàmpols Ros, Teresa, Garcia Lopez, Fernando Jose, Martin Arribas, Maria Concepcion, Pérez Aytés, Antonio, García Sagredo, José Miguel, Díaz de Bustamante, Aránzazu, Dulín Íñiguez, Elena, Labrador Cañadas, Mª Vicenta

المساهمون: Basque Government (España)

مصطلحات موضوعية: Cribado neonatal, Cribado genético, Salud pública, Prestación sanitaria, Información y consentimiento, Representantes legales, Neonatal screening, Genetic screening, Public health, Health care provision, Information and consent, Legal representatives

Relation: https://www.sanidad.gob.es/biblioPublic/publicaciones/recursos_propios/resp/revista_cdrom/VOL95/C_ESPECIALES/RS95C_202101018.pdf; Rev Esp Salud Publica. 2021 Jan 26;95: e202101018.; http://hdl.handle.net/20.500.12105/14635; Revista Española de Salud Publica

الاتاحة: https://hdl.handle.net/20.500.12105/14635

المؤلفون: Labrador Cañadas, Mª Vicenta, Pàmpols Ros, Teresa, Dulín Íñiguez, Elena, Pérez Aytés, Antonio, García Sagredo, José Miguel, Díaz de Bustamante, Aránzazu, Martin Arribas, Maria Concepcion, Garcia Lopez, Fernando Jose, Nicolás Jiménez, Pilar

مصطلحات موضوعية: Cribado neonatal, Cribado neonatal de enfermedades raras, Aspectos éticos, legales y sociales (AELS), Modelos de desarrollo de políticas de cribado, Modelo improvisado, Gobernanza de los programas, Aspectos psicosociales, Organizaciones de pacientes, Papel de las sociedades científico profesionales, Newborn screening, Newborn screening for rare diseases, Ethical, legal and social issues (ELSIs), Extemporary model, Governance of newborn screening programs, Scientific and professional societies, Psychosocial aspects, Patient organizations, Modelo basado en la evidencia, Models of development of newborn screening policies, Evidentiary model of policy development, Health Policy, History, Humans, Infant, Newborn, Neonatal Screening, Social Responsibility

Time: 20th Century

Relation: https://www.mscbs.gob.es/biblioPublic/publicaciones/recursos_propios/resp/revista_cdrom/VOL95/C_ESPECIALES/RS95C_202101016.pdf; Rev Esp Salud Pública. 2021 Jan 26;95:e202101016; http://hdl.handle.net/20.500.12105/14231; Revista Espanola de Salud Publica

الاتاحة: https://hdl.handle.net/20.500.12105/14231

المؤلفون: Labrador Cañadas, Mª Vicenta, Pàmpols Ros, Teresa, Dulín Íñiguez, Elena, Pérez Aytés, Antonio, García Sagredo, José Miguel, Díaz de Bustamante, Aránzazu, Martin Arribas, Maria Concepcion, Garcia Lopez, Fernando Jose, Nicolás Jiménez, Pilar

مصطلحات موضوعية: Ethical, legal and social issues (ELSIs), Evidentiary model of policy development, Extemporary model, Governance of newborn screening programs, Models of development of newborn screening policies, Newborn screening, Newborn screening for rare diseases, Patient organizations, Psychosocial aspects, Scientific and professional societies, Spain

Relation: Rev Esp Salud Publica. 2021 Jan 26;95:e202101016.; http://hdl.handle.net/20.500.12105/11805; Revista espanola de salud publica

الاتاحة: https://hdl.handle.net/20.500.12105/11805

المؤلفون: Pàmpols Ros, Teresa, Pérez Aytés, Antonio, García Sagredo, José Miguel, Blanco Guillermo, Ignacio, Díaz de Bustamante, Aránzazu

المصدر: Revista española de salud pública, ISSN 1135-5727, Nº. 96, 2022

مصطلحات موضوعية: Cribado neonatal, Cribado neonatal genómico, Secuenciación del recién nacido, Salud Pública, Salud Pública genómica, Tecnologías de secuenciación masiva, Aspectos éticos, legales y sociales, Newborn screening, Genomic newborn screening, Newborn sequencing, Public Health, Genomic Public Health, Next generation sequencing technologies, Ethical, legal and social issues

وصف الملف: application/pdf

Relation: https://dialnet.unirioja.es/servlet/oaiart?codigo=8620584; (Revista) ISSN 1135-5727

الاتاحة: https://dialnet.unirioja.es/servlet/oaiart?codigo=8620584

المؤلفون: Pàmpols Ros, Teresa, Pérez Aytés, Antonio, García Sagredo, José Miguel, Díaz de Bustamante, Aránzazu, Blanco Guillermo, Ignacio

المصدر: Revista española de salud pública, ISSN 1135-5727, Nº. 96, 2022

مصطلحات موضوعية: Cribado neonatal, Cribado neonatal genómico, Secuenciación del recién nacido, Cribado genómico, Cribado genético, Tecnologías de secuenciación masiva, Secuenciación del genoma, Secuenciación del exoma, Salud pública, Salud pública genómica, Newborn screening, Genomic newborn screening, Newborn sequencing, Genomic screening, Genetic screening, Next generation sequencing technologies, Genome sequencing, Exome sequencing, Public health, Genomic public health

وصف الملف: application/pdf

Relation: https://dialnet.unirioja.es/servlet/oaiart?codigo=8620588; (Revista) ISSN 1135-5727

الاتاحة: https://dialnet.unirioja.es/servlet/oaiart?codigo=8620588

المؤلفون: Pàmpols Ros T, Pérez Aytés A, García Sagredo JM, Díaz de Bustamante A, Blanco Guillermo I

المصدر: REVISTA ESPANOLA DE SALUD PUBLICA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: Exome sequencing, Genomic screening, Newborn screening, Next generation sequencing technologies, Newborn sequencing, Public health, Spain, Genetic screening, Genomic public health, Genomic newborn screening, Genome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::8516ea1d94eb23a60d2827383399838a
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15380

المؤلفون: Pàmpols Ros, T., Pérez Aytés, A., García Sagredo, J. M., Díaz Bustamante, A., Ignacio Blanco

المصدر: REVISTA ESPANOLA DE SALUD PUBLICA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scopus-Elsevier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bb5b503ce793e9d50489ec4e3e97a573
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15728

المؤلفون: Teresa, Pàmpols Ros, Antonio, Pérez Aytés, José Miguel, García Sagredo, Aránzazu, Díaz de Bustamante, Ignacio, Blanco Guillermo

المصدر: Revista espanola de salud publica. 96

مصطلحات موضوعية: Technology, Neonatal Screening, Spain, Infant, Newborn, High-Throughput Nucleotide Sequencing, Humans, Human Genetics, Genomics, Public Health, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b8b03eec1fb334241a0a87b6b0b118cf
https://pubmed.ncbi.nlm.nih.gov/35283479

المؤلفون: Teresa, Pàmpols Ros, Antonio, Pérez Aytés, José Miguel, García Sagredo, Aránzazu, Díaz de Bustamante, Ignacio, Blanco Guillermo

المصدر: Revista espanola de salud publica. 96

مصطلحات موضوعية: Neonatal Screening, Spain, Infant, Newborn, High-Throughput Nucleotide Sequencing, Humans, Human Genetics, Genomics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::35aba17d2f2033ac92436a2d9386e953
https://pubmed.ncbi.nlm.nih.gov/35115483

المؤلفون: Tomas-Roca, L, Tsaalbi-Shtylik, A, Jansen, J.G, Singh, M.K, Epstein, J.A, Altunoglu, U, Verzijl, H, Soria, L, Van Beusekom, E, Roscioli, T, Iqbal, Z, Gilissen, C, Hoischen, A, De Brouwer, A.P.M, Erasmus, C, Schubert, D, Brunner, H, Pérez Aytés, A, Marin, F, Aroca, P, Kayserili, H, Carta, A, De Wind, N, Padberg, G.W, Van Bokhoven, H

المساهمون: DUKE-NUS MEDICAL SCHOOL

المصدر: Unpaywall 20201031

مصطلحات موضوعية: plexin, PLXND1 protein, protein, REV3L protein, semaphorin, unclassified drug, DNA binding protein, DNA directed DNA polymerase, nerve cell adhesion molecule, human, DNA, etiology, mutation, neurology, rodent, amino acid substitution, animal cell, animal tissue, anterior commissure, Article, brain development, cell migration, cell proliferation, cell survival, cerebellum, clinical article, controlled study, corpus callosum, corpus striatum, dendritic cell

Relation: Tomas-Roca, L, Tsaalbi-Shtylik, A, Jansen, J.G, Singh, M.K, Epstein, J.A, Altunoglu, U, Verzijl, H, Soria, L, Van Beusekom, E, Roscioli, T, Iqbal, Z, Gilissen, C, Hoischen, A, De Brouwer, A.P.M, Erasmus, C, Schubert, D, Brunner, H, Pérez Aytés, A, Marin, F, Aroca, P, Kayserili, H, Carta, A, De Wind, N, Padberg, G.W, Van Bokhoven, H (2015). De novo mutations in PLXND1 and REV3L cause Möbius syndrome. Nature Communications 6 : 7199. ScholarBank@NUS Repository. https://doi.org/10.1038/ncomms8199; https://scholarbank.nus.edu.sg/handle/10635/180463

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/180463

المؤلفون: Martinez, Francisco, Marín-Reina, Purificación, Sanchis-Calvo, Amparo, Perez-Aytés, Antonio, Oltra, Silvestre, Roselló, Mónica, Mayo, Sonia, Monfort, Sandra, Pantoja, Jorge, Orellana, Carmen

المصدر: Pediatric Research ; volume 78, issue 5, page 533-539 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1038/pr.2015.135
http://www.nature.com/articles/pr2015135.pdf
http://www.nature.com/articles/pr2015135

المؤلفون: Tomas-Roca, Laura, Tsaalbi-Shtylik, Anastasia, Jansen, Jacob G., Singh, Manvendra K., Epstein, Jonathan A., Altunoglu, Umut, Verzijl, Harriette, Soria, Laura, van Beusekom, Ellen, Roscioli, Tony, Iqbal, Zafar, Gilissen, Christian, Hoischen, Alexander, de Brouwer, Arjan P. M., Erasmus, Corrie, Schubert, Dirk, Brunner, Han, Pérez Aytés, Antonio, Marin, Faustino, Aroca, Pilar, Kayserili, Hülya, Carta, Arturo, de Wind, Niels, Padberg, George W., van Bokhoven, Hans

المصدر: Nature Communications ; volume 6, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/ncomms8199
https://www.nature.com/articles/ncomms8199.pdf
https://www.nature.com/articles/ncomms8199

المؤلفون: Purificación Marín-Reina, Antonio Pérez-Aytés, M. Belén Ferrer-Lorente, Francisco Martínez, Carmen Orellana, Mónica Rosello, Ana Herrero-García, Gloria Cabezuelo-Huerta

المصدر: Journal of Pediatric Genetics
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
J Pediatr Genet

مصطلحات موضوعية: Genetics, multiple exostoses, 0303 health sciences, 3-q24, Genetic heterogeneity, Adrenarche, 030305 genetics & heredity, Gene deletion, Biology, Cornelia de Lange's syndrome, Phenotype, 8q23, 03 medical and health sciences, 0302 clinical medicine, Langer-Giedion's syndrome, Trichorhinophalangeal Syndrome Type II, 1 deletion, Pediatrics, Perinatology and Child Health, Female patient, Haploinsufficiency, Gene, 030217 neurology & neurosurgery, Genetics (clinical), premature adrenarche

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa2bcf9c8a9abd71d1e99a95aa2feb9c
https://doi.org/10.1055/s-0039-1694779

المؤلفون: Antonio Pérez Aytés, Aranzazu Díaz de Bustamante, José Miguel García Sagredo, Teresa Pàmpols Ros

المصدر: Medicina Clínica. 153:35-40

مصطلحات موضوعية: business.industry, Medicine, General Medicine, business, Humanities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::89b32fe7ddbdff576e45b5c66ada798d
https://doi.org/10.1016/j.medcli.2019.01.028

المؤلفون: Teresa Pàmpols Ros, José Miguel García Sagredo, Antonio Pérez Aytés, Aranzazu Díaz de Bustamante

المصدر: Medicina Clínica (English Edition). 153:35-40

مصطلحات موضوعية: Risk, Societies, Scientific, Genetics, Medical, MEDLINE, Commission, Direct-to-Consumer Advertising, Truth Disclosure, Government Agencies, Direct-To-Consumer Screening and Testing, medicine, Humans, Confidentiality, Genetic Testing, Ethics, Business, Precision Medicine, Genetic testing, Ethics Committees, medicine.diagnostic_test, United States Food and Drug Administration, business.industry, Perspective (graphical), Precision medicine, United Kingdom, United States, Human genetics, Spain, Personal Autonomy, Engineering ethics, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c49dd68e3dcb7e48a051d1d1b9e8142c
https://doi.org/10.1016/j.medcle.2019.06.006

المؤلفون: Valencia, Maria, Lapunzina, Pablo, Lim, Derek, Zannolli, Raffaella, Bartholdi, Deborah, Wollnik, Bernd, Al-Ajlouni, Othman, Eid, Suhair S., Cox, Helen, Buoni, Sabrina, Hayek, Joseph, Martinez-Frias, Maria L., Antonio, Perez-Aytes, Temtamy, Samia, Aglan, Mona, Goodship, Judith A., Ruiz-Perez, Victor L.

المساهمون: Valencia, Maria, Lapunzina, Pablo, Lim, Derek, Zannolli, Raffaella, Bartholdi, Deborah, Wollnik, Bernd, Al-Ajlouni, Othman, Eid, Suhair S., Cox, Helen, Buoni, Sabrina, Hayek, Joseph, Martinez-Frias, Maria L., Antonio, Perez-Aytes, Temtamy, Samia, Aglan, Mona, Goodship, Judith A., Ruiz-Perez, Victor L.

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/484; 000272796400008; 3143016

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/484
https://doi.org/10.1002/humu.21117