المؤلفون: Tous, Cristina, Muñoz-Redondo, Carmen, Gavilán, Angela, Bravo-Gil, Nereida, Baco-Antón, Fátima, Navarro-González, Elena, Antiñolo, Guillermo, Borrego, Salud

المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), European Commission, Junta de Andalucía

مصطلحات موضوعية: Papillary thyroid carcinoma, CRISPR-CAS9, PD-L1, Cancer, linc00887, lncRNA

وصف الملف: application/pdf

العلاقة: Publisher's version; The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI https://doi.org/10.3390/ijms25031587Test; https://doi.org/10.3390/ijms25031587Test; Sí; International Journal of Molecular Sciences 25(3): 1587 (2024); http://hdl.handle.net/10261/360103Test; 2-s2.0-85184468919; https://api.elsevier.com/content/abstract/scopus_id/85184468919Test

الإتاحة: https://doi.org/10.3390/ijms25031587Test
http://hdl.handle.net/10261/360103Test
https://api.elsevier.com/content/abstract/scopus_id/85184468919Test

المؤلفون: Lucena-Padros, Helena, Bravo-Gil, Nereida, Tous, Cristina, Rojano, Elena, Seoane-Zonjic, Pedro, Fernández, Raquel M., Ranea, Juan A. G., Antiñolo, Guillermo, Borrego, Salud

المساهمون: European Commission, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Junta de Andalucía

مصطلحات موضوعية: System biology, Hirschsprung’s disease, Enteric neuropathy, Networks analysis, Omics expression data

وصف الملف: application/pdf

العلاقة: Publisher's version; The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI https://doi.org/10.3390/biom14020164Test; https://doi.org/10.3390/biom14020164Test; Sí; Biomolecules 14(2): 164 (2024); http://hdl.handle.net/10261/359906Test; 2-s2.0-85185934873; https://api.elsevier.com/content/abstract/scopus_id/85185934873Test

الإتاحة: https://doi.org/10.3390/biom14020164Test
http://hdl.handle.net/10261/359906Test
https://api.elsevier.com/content/abstract/scopus_id/85185934873Test

المؤلفون: Villalba Benito, Leticia, Torroglosa, Ana, Luzón-Toro, Berta, Fernández, Raquel María, Moya Jiménez, María José, Antiñolo Gil, Guillermo, Borrego, Salud

المساهمون: Universidad de Sevilla. Departamento de Cirugía

مصطلحات موضوعية: Hirschsprung disease, ChIP-seq, Gene expression profiling, Sequence analysis, PAX6

العلاقة: International Journal of Molecular Sciences, 21 (23), 1-14.; https://idus.us.es/handle//11441/153084Test

الإتاحة: https://idus.us.es/handle//11441/153084Test

المؤلفون: López-López, Daniel, Roldán, Gema, Fernández-Rueda, Jose L., Bostelmann, Gerrit, Carmona, Rosario, Aquino, Virginia, Perez-Florido, Javier, Ortuño, Francisco, Pita, Guillermo, Núñez-Torres, Rocío, González-Neira, Anna, Alonso, Angel, Salgado-Garrido, Josefa, Pasalodos-Sanchez, Sara, Ayuso, Carmen, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Artuch, Rafael, Borrego, Salud, Antiñolo, Guillermo, Carracedo, Angel, Amigo, Jorge, Castaño, Luis Antonio, Tejada, Isabel, Delmiro, Aitor, Espinos, Carmina, Grinberg, Daniel, Guillén, Encarnación, Lapunzina, Pablo, Lopez-Escámez, Jose Antonio, Gallego-Martinez, Alvaro, Martí, Ramón, Rovira, Eulalia, Millán, José Mª, Moreno, Miguel Angel, Morin, Matías, Moreno-Galdó, Antonio, Fernández-Cancio, Mónica, Morte, Beatriz, Mulero, Victoriano, García, Diana, Nunes, Virginia, Palau, Francesc, Perez, Belén, Jurado, Luis Pérez, Perona, Rosario, Pujol, Aurora, Ramos, Feliciano, Lopez, Esther, Ribes, Antonia, Rosell, Jordi, Surrallés, Jordi, Peña-Chilet, María, Dopazo, Joaquin

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/ES/ISCIII/IMP-00009; info:eu-repo/grantAgreement/ES/ISCIII/IMP-00019; info:eu-repo/grantAgreement/ES/ISCIII/PI20-01305; info:eu-repo/grantAgreement/ES/PID2020-117979RB-I00; http://zaguan.unizar.es/record/125830Test

الإتاحة: https://doi.org/10.1186/s40246-023-00466-8Test
http://zaguan.unizar.es/record/125830Test

المؤلفون: Tous, Cristina, Muñoz-Redondo, Carmen, Bravo-Gil, Nereida, Gavilán, Ángela, Fernández, Raquel M., Antiñolo, Juan, Navarro González, Elena, Antiñolo, Guillermo, Borrego, Salud

المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), European Commission, Junta de Andalucía, Universidad de Sevilla

مصطلحات موضوعية: Next-generation sequencing, Whole exome sequencing, Thyroid cancer, Hereditary cancer

وصف الملف: application/pdf

العلاقة: Publisher's version; The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.3390/ijms24097843Test; https://doi.org/10.3390/ijms24097843Test; Sí; International Journal of Molecular Sciences 24(9): 7843 (2023); http://hdl.handle.net/10261/350853Test

الإتاحة: https://doi.org/10.3390/ijms24097843Test
http://hdl.handle.net/10261/350853Test

المؤلفون: Fernández-Suárez, Elena, González del Pozo, María, García-Núñez, Alejandro, Méndez-Vidal, Cristina, Martín-Sánchez, Marta, Mejías-Carrasco, José Manuel, Ramos-Jiménez, Manuel, Morillo-Sánchez, María José, Rodríguez-de-la-Rúa-Franch, Enrique, Borrego, Salud, Antiñolo, Guillermo

المساهمون: Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Junta de Andalucía, Fundación Isabel Gemio, Fundación Cajasol, European Commission

مصطلحات موضوعية: Cone dystrophy, Stargardt disease, Macular dystrophy, Autosomal dominant, THRB, Thyroid hormone resistance, Splicing variant

وصف الملف: application/pdf

العلاقة: Publisher's version; Fernández-Suárez, Elena; González del Pozo, María; García-Núñez, Alejandro; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud; Antiñolo, Guillermo; 2023; "Image1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDF [Dataset]; Figshare; https://doi.org/10.3389/fcell.2023.1197744.s001Test; Fernández-Suárez, Elena; González del Pozo, María; García-Núñez, Alejandro; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud; Antiñolo, Guillermo; 2023; "Table1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.XLSX [Dataset]; Figshare; https://doi.org/10.3389/fcell.2023.1197744.s002Test; Fernández-Suárez, Elena; González del Pozo, María; García-Núñez, Alejandro; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud; Antiñolo, Guillermo; 2023; "Table2_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDF [Dataset]; Figshare; https://doi.org/10.3389/fcell.2023.1197744.s003Test; Fernández-Suárez, Elena; González del Pozo, María; García-Núñez, Alejandro; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud; Antiñolo, Guillermo; 2023; "Table3_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.pdf [Dataset]; Figshare; https://doi.org/10.3389/fcell.2023.1197744.s004Test; https://doi.org/10.3389/fcell.2023.1197744Test; Sí; Frontiers in Cell and Developmental Biology 11: 1197744 (2023); http://hdl.handle.net/10261/350514Test

الإتاحة: https://doi.org/10.3389/fcell.2023.1197744Test
https://doi.org/10.3389/fcell.2023.1197744.s001Test
https://doi.org/10.3389/fcell.2023.1197744.s002Test
https://doi.org/10.3389/fcell.2023.1197744.s003Test
https://doi.org/10.3389/fcell.2023.1197744.s004Test
http://hdl.handle.net/10261/350514Test

المؤلفون: Fernández-Suárez, Elena, González-del Pozo, María, Méndez-Vidal, Cristina, Martín-Sánchez, Marta, Mena, Marcela, de la Morena-Barrio, Belén, Corral, Javier, Borrego, Salud, Antiñolo, Guillermo

المصدر: Mobile DNA; 5/4/2024, Vol. 15 Issue 1, p1-12, 12p

مصطلحات موضوعية: RETINITIS pigmentosa, GENETIC disorder diagnosis, DNA insertion elements, HETEROZYGOSITY, INSPECTION & review, GENES

المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57Test

المؤلفون: González del Pozo, María, Fernández Suárez, Elena, Bravo Gil, Nereida Inés, Méndez Vidal, Cristina, Martín Sánchez, Marta, Rodríguez de la Rúa Franch, Enrique, Ramos Jiménez, Manuel, Morillo Sánchez, María José, Borrego, Salud, Antiñolo Gil, Guillermo

المساهمون: Universidad de Sevilla. Departamento de Cirugía

مصطلحات موضوعية: WGS, Genes, Inherited retinal dystrophies

العلاقة: NPJ GENOMIC MEDICINE, 7 (1), 1-15.; https://www.nature.com/articles/s41525-022-00286-0Test; https://idus.us.es/handle//11441/137928Test

الإتاحة: https://idus.us.es/handle//11441/137928Test

المؤلفون: Luzón-Toro, Berta, Villalba Benito, Leticia, Fernández, Raquel María, Torroglosa, Ana, Antiñolo Gil, Guillermo, Borrego, Salud

المساهمون: Universidad de Sevilla. Departamento de Cirugía

مصطلحات موضوعية: RMRP, RMST, FTX, IPW, Medullary thyroid cancer

العلاقة: ORPHANET JOURNAL OF RARE DISEASES, 16 (4); PT13/0010/0056; PI16/0142; PI19/01550; PEER‑0470–2019; https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01665-5Test; https://idus.us.es/handle//11441/135954Test

الإتاحة: https://idus.us.es/handle//11441/135954Test